Index

Note: Page numbers followed by f refer to figures; page numbers followed by t refer to tables; page numbers followed by b refer to boxes.

A Adrenomyeloneuropathy (AMN), 304–305 Amyotrophic lateral sclerosis (Continued)

AAV infection and replication, 239 clinical presentation of, 304 flail arm, 253
AAV-9-vector-associated gene delivery, 239 diagnosis of, 304 flail leg, 253
Abdominal surgery, and transplantation, treatment of, 305 frontotemporal lobar dementia in, 254t
214–215 Aerobic exercise, 161t, 163 head drop in, 13f
Abetacept, 153 AIDS. See Human immunodeficiency virus incidence of, 248
Abetalipoproteinemia, 283t–284t, 298 (HIV) infection mood disorders in, 179
Abnormal nerve biopsies, 20, 28f–29f Airway clearance, 208 in motor neuron disease, 162
Acetazolamide AL amyloidosis, 333 palliative care in, 181–182
in nondystrophic myotonia, 432 Albuterol perioperative management in, 208
in periodic paralysis, 435–436, 435t in congenital myasthenic syndromes, 478–479 pseudobulbar affect in, 256, 257t
Acetazolamide-responsive myotonia, 430, 432 in fascioscapulohumeral muscular pure lower motor neuron presentation of,
Acetylcholinesterase inhibitors dystrophy, 513 251–252, 251t
adverse effects of, 448–449 Alcoholic neuropathy, 363 pure upper motor neuron presentation of,
in congenital myasthenic syndromes, 478 Alcohol use/abuse, 363, 368–369 252–253
in Lambert-Eaton myasthenic syndrome, Aldolase A deficiency, 575t, 577 quality of life in
469 Alemtuzumab, 152, 154t–156t caregiver role in, 180–181
in myasthenia gravis, 448–450, 449t, 458t Alendronate, in Duchenne muscular professional care team impact on, 180
in snakebite myasthenic syndrome, 482 dystrophy, 178 respiratory complications of, 46–47
Achilles tendon Alprostadil, in erectile dysfunction, 112, 112t aspiration prevention in, 47
lengthening of Amanita poisoning, 372t diaphragmatic pacing for, 47
in Duchenne muscular dystrophy, 189, Ambenonium chloride, in myasthenia gravis, symptomatic care for, 47
189f 449t tracheostomy for, 46–47
in rippling muscle disease, 428 Aminoglycosides, in glycogen storage disease ventilatory support in, 46–47
release of, in Duchenne muscular type V, 581 sialorrhea in, 257t
dystrophy, 189 Aminopyridine, in Lambert-Eaton sleep disturbances, 257
Acquired equinovarus deformity, 269 ­myasthenic syndrome, 468 spasticity in, 257, 257t
Acquired immunodeficiency syndrome Amiodarone, neuropathy with, 107, 370–371, pain with, 178
(AIDS). See Human immunodeficiency 371f tongue atrophy in, 13f
virus (HIV) infection Amitriptyline, in painful polyneuropathy, tracheostomy in, 218–219
Acrodermatitis chronica atrophica, 353 126t, 133, 134t treatment of, 255–258
Acromegaly, 529t Amoxapine, in painful polyneuropathy, 126t breathing management in, 256
Activities of daily living, assistive devices for, Amyloidosis drug therapies, 255
171–172, 172t autonomic neuropathy in, 104–105 end-of-life, 258
Acute dysautonomia, 10–15 familial, 297–298 equipment management in, 257–258
Acute flaccid paralysis, West Nile virus, clinical presentation of, 291, 296–299, exercise in, 163–164, 256
350 301–303 experimental, 255–256
Acute inflammatory demyelinating polyra- diagnosis of, 297–298 multidisciplinary, 258
diculoneuropathy. See Guillain-Barré treatment of, 298 nutritional, 256
syndrome primary, 333 pharmacologic, 255, 257t
Acute intermittent porphyria (AIP), 238, diagnosis of, 333 physical therapy, 256
279, 306t treatment of, 333 social management in, 258
Acute motor axonal neuropathy (AMAN), Amyotrophic lateral sclerosis (ALS), 3f, stem cell trials in, 248
313–314 247–260 strengthening exercise in, 162–163
Acute motor-sensory axonal neuropathy bulbar palsy in, 251t, 253 symptomatic, 256–257, 257t
(AMSAN), 314 cognitive/behavioral changes in, 253, 254t urinary difficulties, 257
Acute pandysautonomic neuropathy, 315 constipation in, 90 urinary urgency in, 256, 257t
Acute pure sensory ataxic GBS, 315 cramps in, 256 Amyotrophic lateral sclerosis (ALS) plus,
Adaptive car seats and boosters, 170 delayed gastric emptying in, 85–87 248, 253–254
Adaptive strollers, 170, 171f diagnosis of, 248–255, 249f–250f Amyotrophy, postmyelopathy, 8f
Addiction, 137–138 communication of, 257–258 Anakinra, 153, 154t–156t
Addison disease, 529t, 539 electrodiagnostic studies in, 249f, 254 Anal sphincter constipation, 90
Adenoma family history in, 248–253 treatment, 90
adrenal gland, 539 laboratory testing in, 251t, 255 Anaphylaxis, intravenous immune globulin
parathyroid gland, 536–537 differential diagnosis of, 249f, 252 and, 148
pituitary gland, 539 dysarthria in, 174, 175t Anderman’s syndrome (agenesis of corpus
Adrenal insufficiency, 529t, 539 dysphagia in, 79 callosum and peripheral neuropathy),
Adrenoleukodystrophy (ALD), 304–305 PEG tube placement for, 209 283t–284t
clinical presentation of, 304 EEG-based BCI, 175 Andersen disease, 573–574, 574f, 575t
diagnosis of, 304 facial-onset sensory and motor neuronop- Andersen-Tawil syndrome, 433–434,
treatment of, 305 athy, 253 436

595
596 INDEX
Angiotensin-converting enzyme inhibitors
and beta blockers, 66–67
in Duchenne muscular dystrophy– related
cardiomyopathy, 65t, 67
Anhidrosis, 108
in diabetes mellitus, 104
in Guillain-Barré syndrome, 108
Ankle-foot orthoses, 167–168, 168f
ANO5, 508
Anoctamin 5, 508
ANT1, 589f, 589t
Antibiotics
in botulism, 475
in leprosy, 356
in Lyme neuroborreliosis, 354–355
in tetanus, 422
Antibodies
acetylcholine receptor, 446–447
antiamphiphysin, 417–421, 419t
anti-Borrelia, 354
anti-glutamic acid dehydrogenase, 414,
416–418, 419t
anti-Hu, 332
anti-Jo-1, 562
anti-VGKC, 425–426
Anticoagulation, in cardiac dysfunction,
67–68
Antidepressants
in HIV-associated distal sensory polyneu-
ropathy, 366
in painful polyneuropathy, 123–127, 126t,
130, 133–135, 134t–135t
weight gain with, 133
Antidisialosyl gangliosides reactivity, 331,
333
Antiepileptics, suicide risk with, 133
Antigen, 143
Anti-Hu syndrome, 332
Antihypertensives, orthostatic hypotension
with, 110
Anti-MAG neuropathy, 328
Antimicrotubular myopathy, 369–370
Antioxidant therapy, in Friedreich ataxia,
299
Antiretroviral agents
myopathy with, 350
neuropathy with, 366–367
Antisense oligonucleotide (ASOs), 202,
233–235
chemical structure of, 234f
chemistry and properties, 233t
mechanisms of action, 235f–237f
Antisense oligonucleotides
in Duchenne muscular dystrophy, 502
in myotonic dystrophy, 516
Antithymocyte globulin, 153, 154t–156t
Antitoxin, botulism, 474–475
Anti–tumor necrosis factor-α agents, 153,
154t–156t
Antivenins, 372t
Antivenoms, 481–482
Anxiety, 179
in amyotrophic lateral sclerosis, 248
with painful polyneuropathy, 132
APOA1, 283t–284t
Array CGH, 228
Arrhythmias, 68
in Guillain-Barré syndrome, 108
Arsenic poisoning, 107, 361
Arthrogryposis multiplex congenita, 463
Aspiration
in congenital myopathy, 271
in spinal muscular atrophy, 271
treatment options for, 85
Assistive cough, 208
Assistive devices, 171–172, 172t
for communication, 172
for community participation, 172
for environmental control, 172
for functional mobility, 171–172
Astronomer’s posture, 11f
Ataxia, Friedreich. See Friedreich ataxia
Atrial flutter, in Duchenne muscular dystro-
phy, 59f, 61
Atrophic denervated muscle fibers, 18–20,
22f
Atrophy
histology of, 17t, 18–20, 22f, 22t
on physical examination, 3–4, 7f–8f
Atropine, in organophosphate intoxication,
484–485
Atypical CIDP, 321
subtypes, 321–323
Autoimmune acquired neuromyotonia (Isaa-
cs syndrome), 424–425
diagnosis of, 424–426, 424t
treatment of, 426
Autoimmune autonomic dysfunction, 325–326
Autoimmune autonomic ganglionopathy, 108
Autoimmune inflammatory myopathies,
554–571
Autoimmune neuropathy
acute. See Guillain-Barré syndrome
chronic. See Chronic inflammatory demye-
linating polyradiculoneuropathy
Autoimmune peripheral neuropathies (APNs)
acute, 312
amyloidic, 333
celiac disease and, 331
connective tissue disease and, 332
cryoglobulinemic, 332
motor, multifocal, 330–331
paraproteinemic polyneuropathies, 316
sensorimotor, asymmetric, 321
vasculitic, 330–334
Autoimmune plexopathy
brachial, 332–333
lumbosacral, 331
Autoimmunity, 144–145
Autonomic nervous system, 97–99, 98f
evaluation of, 99–102
deep breathing testing in, 100–101, 100f
indications for, 99
orthostatic testing in, 99, 99t, 100f
preparation for, 99
quantitative sudomotor axon reflex
testing in, 102
summary of, 102, 103t
sympathetic skin response in, 101–102,
101f
thermoregulatory sweat testing in, 102,
102f
tilt-table testing in, 100
Valsalva maneuver in, 101, 101f
parasympathetic, 97–98, 98f
sympathetic, 97, 98f
Autonomic neuropathy. See also Hereditary
sensory and autonomic neuropathy.
amyloid, 104–105
in autoimmune ganglionopathy, 108
in botulism, 109
chronic, 102–105
in chronic demyelinating polyradiculoneu-
ropathy, 108
diabetic, 102–104, 528–530
cardiovascular, 103–104, 528–530
gastrointestinal, 91, 104, 528–530
genitourinary, 104
sudomotor dysfunction in, 104
treatment of, 534–535
Autonomic neuropathy (Continued)
drug-related, 107
in Guillain-Barré syndrome, 108
in hepatic failure, 105
infectious, 107
in Lambert-Eaton myasthenic syndrome,
108–109
in myasthenia gravis, 109
in nutritional deficiencies, 105–106
paraneoplastic, 106–107
in porphyria, 105
postural orthostatic tachycardia syndrome,
109
in renal disease, 105
in rheumatologic disease, 107
treatment of, 109–114, 110t, 112t–114t
Axon, 120–121
Axonal degeneration, biopsy in, 20, 27t, 28f
Axonotmesis, 401
Azathioprine, 149, 154t–156t
in chronic inflammatory demyelinating
polyradiculoneuropathy, 328
in dermatomyositis, 565
drug interactions with, 149
monitoring with, 149
in myasthenia gravis, 450–455, 451t–455t,
458t
in polymyositis, 565
side effects of, 149
in vasculitic neuropathy, 330
AZT myopathy, 345, 348, 350
B
Baclofen, in stiff-person syndrome, 418–419,
420t
Balance exercise/training, 161t, 163–164
Bariatric surgery, complications of, 215
Barium swallow examination, 82, 82f
Barth syndrome, 53t–54t, 57
Bathroom modifications, 173
B cells and B-cell trophic factors, 329
B-cell trophic factors, 329
Becker disease (myotonia congenita),
428–429, 429t, 432t
perioperative management in, 211
Becker muscular dystrophy, 492–506
biopsy in, 501
cardiac complications of, 54
carriers of, 70
electrocardiography in, 59
evaluation of, 58–64
heart transplantation for, 69
monitoring of, 70, 71t
pathology of, 64
preoperative assessment of, 69
treatment of, 64–69, 65f, 65t
carriers of, 54–55, 71t
clinical manifestations of, 499, 499f
gastric emptying in, 85–88
natural history of, 187f
orthopedic surgery in, 191
physical examination in, 7f
respiratory complications of, 42, 504–505.
See also Muscular dystrophy; respirato-
ry complications of.
Beta-blockers (BB), 67
in Duchenne muscular dystrophy–related
cardiomyopathy, 67
monotherapy, 67
Beta blockers, in Duchenne muscular dystro-
phy–related cardiomyopathy, 65t
Bethanechol, in urinary retention, 112
Bethlem myopathy, 493t–494t, 517–518
Bezafibrate, in lipid metabolism disorders,
585

Bickerstaff brainstem encephalitis (BBE), 315
Biopsies of inclusion body myositis, 18–20, 24f
Biopsy
muscle, 17t, 18–20
in Becker muscular dystrophy, 501
contraindications to, 20
in critical illness myopathy, 217–219, 218f
in dermatomyositis, 557–558, 558f
in Duchenne muscular dystrophy,
500–501, 500f–501f
in glycogen storage diseases, 577–579, 578f
in HIV-associated myopathy, 347–348
in inclusion body myositis, 557–558, 558f
in limb-girdle muscular dystrophy 2A,
507
in mitochondrial myopathy, 588, 588f
in myopathies, 20, 22t, 26f
nerve, 28f
in neurogenic disorders, 20, 22f, 22t
in nondystrophic myotonia, 431
normal, 21f
in polymyositis, 557–558, 558f
in rippling muscle disease, 428
in sarcoidosis, 359–360, 360f
transverse images, 20–33, 35f
in trichinosis, 357–358, 358f
nerve, 20, 27t
in amiodarone neuropathy, 370–371,
371f
in celiac disease, 330–331
in Charcot-Marie-Tooth disease, 293
in familial amyloidic polyneuropathy,
298
in HIV-associated neuropathy, 355
in leprosy, 357
skin
in familial amyloidic polyneuropathy,
298
in HIV-associated neuropathy, 355
Biopsy abnormalities in various congenital
myopathies, 18–20, 26f
Biopsy findings in myopathies, 18–20, 26f
Bisacodyl, 114, 114t
Bisphosphonates, in sarcoidosis, 360
Black widow spider bite, 372t
Bladder, neurogenic, in diabetes mellitus,
104
Blink reflex, 15
Bone health, 187–191
Botulinum toxin A, in stiff-person syndrome,
418–419, 420t
Botulism, 471–476
clinical manifestations of, 473
diagnosis of, 473–474, 474b
dysautonomia in, 109
electrodiagnostic features of, 473, 473f
foodborne, 471–472, 472t
gastrointestinal tract disease and, 472
iatrogenic, 472–473
infant, 472, 472t
inhalation, 473
pathophysiology of, 473
treatment and management, 474–476
algorithm, 475, 476f
antibiotics in, 475
3,4-diaminopyridine, 475
guanidine in, 475
guidelines for, 475–476, 476f
human botulism immune globulin in,
474–475
intensive supportive care, 474, 474b
toxin removal in, 475
trivalent equine botulism antitoxin in,
474
wound, 472, 472t
Bowstring sign, in lumbosacral
radiculopathy, 389
Brachial amyotrophic diplegia, 253
Brachial plexopathy, 391, 391b
anatomy of, 392f
diagnosis of, 397–398
immune-mediated, 319, 399
physical examination in, 8f
postoperative, 394–395
radiation-induced, 393–394, 394t
traumatic, 395
treatment of, 398
Breastfeeding, myasthenia gravis and, 463
Breathing, deep, heart rate response to,
100–101, 100f
Bridegroom’s palsy, 407
Brody disease, 436–437
Buried bumper syndrome, 84
Burners, 391
C (CMRI), in cardiac complications, 63
CACNA1S, 433, 436
Caffeine, in orthostatic hypotension, 110
Calcifications, subcutaneous, 554–555, 555f
Calcitriol, 537–538
Calcium
in Duchenne muscular dystrophy, 496f,
497
in sarcoidosis, 360
supplementation with, bariatric surgery
and, 215
Calcium balance, in Duchenne muscular
dystrophy, 504
Calcium channel, in pain, 122–123
Calcium gluconate, 537
Calf hypertrophy, 186–187, 188f, 499, 499f
Cancer
autonomic neuropathy with, 106–107
cyclophosphamide-related, 150
dermatomyositis with, 554
sensory neuronopathy with, 332
in stiff-person syndrome, 415
Canes, 168–169, 169f
Cannabidiol (CBD), 138
Cannabis, in HIV-associated distal sensory
polyneuropathy, 349
Cannabis sativa, 138
CAPN3, 506–507
Capsaicin, in HIV-associated distal sensory
polyneuropathy, 349
Captopril, in Duchenne muscular dystrophy–
related cardiomyopathy, 67
Carbamazepine
in cramp-fasciculation syndrome, 426
in myotonic dystrophy, 515–516
Carbonic anhydrase inhibitors
in Andersen-Tawil syndrome, 436
in periodic paralysis, 435–436, 435t
Cardiac catheterization, 63
Cardiac disease, 52–78. See also Heart failure.
in Barth syndrome, 53t–54t, 57
in Becker muscular dystrophy, 54. See also
Becker muscular dystrophy; cardiac
complications of.
in congenital muscular dystrophy, 58, 72
depression and, 131–132
in Duchenne muscular dystrophy, 52–54.
See also Duchenne muscular dystro-
phy; cardiac complications of.
in Emery-Dreifuss muscular dystrophy,
53t–54t, 56–57, 71t, 72
evaluation of, 58–64
cardiac catheterization in, 63
cardiac magnetic resonance
imaging in, 63
INDEX 597
Cardiac disease (Continued)
echocardiography in, 61–63, 62f
electrocardiography in, 59–60, 59f–60f
electrophysiologic testing in, 63–64
Holter monitoring in, 60–61
monitoring for, 70–72, 71t
patient history in, 58–59
physical examination in, 58–59
preoperative, 69
treatment of, 64–69, 65f, 65t
in fascioscapulohumeral muscular dystro-
phy, 53t–54t, 57
in Friedreich ataxia, 53t–54t, 57, 71t, 72
in limb-girdle muscular dystrophy, 53t–54t,
55, 70–72, 71t
in mitochondrial disorders, 53t–54t, 58
in myotonic dystrophy, 53t–54t, 55–56, 60f,
71t, 72
in Pompe disease, 53t–54t, 57
Cardiac magnetic resonance imaging
Cardiac pharmacologic therapies, for
Duchenne muscular dystrophy, 64–67,
65f, 65t
Cardiomyopathy
dilated
in Becker muscular dystrophy, 54, 64,
65f
in Duchenne muscular dystrophy, 62f,
64, 65f, 65t, 499
X-linked, 53t–54t, 55
hypertrophic, in Duchenne muscular
dystrophy, 62–63
pathology of, 64
treatment of, 64–69, 65f–66f, 65t
Cardiothoracic surgery
complications of, 214
diagnosis, 214
neurologic examination after, 214
and transplantation, 214
treatment, 214
Cardiovascular involvement, 207
Cardiovascular management, 208
Cardioversion, 68
Caregivers, 180–181
Carnitine deficiency, 582t, 583, 585
Carnitine palmitoyl-transferase I deficiency,
583, 583f
Carnitine palmitoyl-transferase II deficiency,
582t, 583–585, 583f
treatment of, 585, 585b
Carpal tunnel syndrome, 20–33, 37f, 401–404
clinical features of, 401–403
in diabetes mellitus, 530, 533
diagnosis of, 403
ergonomics of, 401
in familial amyloidic polyneuropathy, 297
pathoanatomy of, 401
treatment of, 403–404, 404b
with uremic neuropathy, 540
Carrier testing, 231
Carvedilol, in Duchenne muscular dystro-
phy–related cardiomyopathy, 65t, 67
Castleman disease, 322–323
Catecholamines, plasma, 103t
CAV3, 509
Caveolinopathy, 509
Cavovarus foot deformity, 197b. See also Char-
cot-Marie-Tooth disease; cavovarus foot
deformity in.
Cefotaxime, in Lyme neuroborreliosis, 354
Ceftriaxone, in Lyme neuroborreliosis, 354
Celiac disease (CD), 331
Cell energy, in Duchenne muscular
dystrophy, 504
598 INDEX
Cell therapy, in Duchenne muscular
dystrophy, 503–504
Central core disease, 26f, 264
Central core myopathies, 264–266
Centronuclear/myotubular myopathy, 264,
265t–266t, 266–267
Cerebrospinal fluid (CSF) examination
in HIV infection, 348–349
in Lyme neuroborreliosis, 353–354
in West Nile virus infection, 350–351
Cervical collar, 164–165, 165f, 165t, 386
Cervical orthoses, 164–165
Cervical radiculopathy, 384–387
clinical features of, 384–385, 384t
collar in, 386
diagnosis of, 385–386, 385b
evaluation, 385–386, 385b
management, 386–387, 386b
pain in, 385
physical examination in, 387–389
physical therapy in, 386
reflex examination in, 385
strength examination in, 385
surgery in, 387
traction in, 387
treatment of, 386–387, 386b
CGH array, 228
Chagas disease, autonomic neuropathy with,
107
Chanarin-Dorfman syndrome, 584
Channelopathy, 428–432, 429t. See also Peri-
odic paralysis.
perioperative management in, 211
Chaperone therapy, in Fabry disease,
302–303
Charcot-Marie-Tooth disease, 162, 195–200
1A, 163, 195
2A, 195
vs. amyotrophic lateral sclerosis, 248
cavovarus foot deformity in, 195–199, 195f,
278, 280t–282t, 292f
evaluation of, 196, 196f, 197b
nonoperative treatment of, 198
operative treatment of, 198–199,
199f–200f
physical examination of, 196–197, 196f,
198f
radiography of, 197–198, 198f
chronic inflammatory demyelinating poly-
radiculoneuropathy and, 285, 297–298
classification of, 291–293
clinical presentation of, 296
compression neuropathy with, 291
diagnosis of, 285, 292f
drug avoidance in, 306–307
gene therapy in, 289
hip dysplasia in, 199, 201f
nerve biopsy in, 292f, 298–299
nerve conduction study in, 280t–282t
neuronal-type, 200–201
neurotrophic factors in, 295
orthopedic surgery in, 195–200
orthopedic treatment in, 294
perioperative management in, 208–211
spinal deformity in, 199–200
treatment of, 294
Chelation
in arsenic poisoning, 361
in Friedreich ataxia, 299
in lead poisoning, 362
Chemokines, 144
Chemotherapy
neuropathy with, 107, 363–366
in small cell lung cancer, 470
in thymoma, 464
Chemotherapy-induced peripheral
neuropathy, 363–366
Childbirth, brachial plexopathy with, 395
Chlomipramine, in painful polyneuropathy,
133
Chloroquine neuromyopathy, 364t–365t, 370
Chloroquine, neuropathy with, 364t–365t
Cholinergic crisis, in organophosphate
intoxication, 483, 483t
Cholinesterase reactivators, in
organophosphate intoxication, 485
Chromosome 9 open reading frame 72
(C9orf72) hexanucleotide repeat
expansion, 230
Chromosome Xp21 microdeletion
syndromes, 500
Chronic inflammatory demyelinating
polyradiculoneuropathy, 319–321
with antibodies to cell adhesion antigens,
323–324
with anti-CASPR1 antibodies, 324
with anti-CNTN1 antibodies, 324
with anti-NF140/186 IgG antibodies, 324
with anti-paranodal antigen antibodies, 329
brachial plexopathy in, 393
Charcot-Marie-Tooth disease and, 285,
297–298
classification, 319
diagnosis of, 326
dysautonomia in, 108
electrophysiology, 321
with monoclonal gammopathy, 333
outcome of, 316
pathogenesis of, 3f, 145, 146f
pathology, 319
subtypes, 321–323
therapeutic randomized controlled studies
in, 328t
therapies, 329
treatment of, 327–329, 328t
variants based on patterns of symptoms
and signs, 320, 320t
Chronic intestinal pseudo-obstruction
(CIPO), 88–90
medical therapy of, 89
treatment, 89–90
Chronic progressive external
­ophthalmoplegia, 586, 586f
differential diagnosis of, 586–587
genetics in, 589–590, 589f, 589t
nonmuscle involvement in, 587, 587f
treatment of, 590–591
Ciguatera toxin, 371–373
CIPO. See Chronic intestinal pseudo-obstruc-
tion
Cisapride, in delayed gastric emptying, 87–88
Cisplatin
autonomic neuropathy with, 107
neuropathy with, 364t–365t
Claudication, 389–390
Claw hand, 8f
Claw toe, 198–199, 199f
Clinical evaluation, 1–39, 14t, 19t
anatomic elements in, 3f
diagnostic tests in, 10–15
electrophysiologic tests in, 15–18, 17t
blink reflex, 15
electromyography, 15–18, 17t, 18f–19f, 19t.
See also Electromyography (EMG).
nerve conduction, 15, 17f, 17t. See also
Nerve conduction study.
repetitive stimulation test, 17t, 19f. See
also Repetitive nerve stimulation
(RNS) test.
single-fiber electromyography, 20f
Clinical evaluation (Continued)
genetic testing, 33–37
histologic tests in, 17t, 18–20, 21f–22f, 22t,
26f, 27t, 28f
medical history in, 2–3
nerve and muscle imaging, 20–33
physical examination in, 3–10, 9b, 13b
atrophy on, 3–4, 7f–8f
facial findings on, 4, 12f
floppy infant on, 9f
manual muscle testing for, 4, 14t
myotonia, 4, 14f
neck findings on, 4, 13f, 13b
ocular findings on, 11f–12f
sensory findings on, 4–10
symptoms in, 2–3, 3f, 7f
Clinical Laboratory Improvement Amend-
ments (CLIA) statute of 1988, 231–232
Clofazimine, in leprosy, 356
Clomipramine, in painful polyneuropathy,
126t
Clonazepam, in stiff-person syndrome,
418–419, 420t
Clonidine
in diarrhea, 113, 113t
in gastroparesis, 113, 113t
in stiff-person syndrome, 418–419, 420t
Clostridium botulism. See Botulism
Clubfoot, in spinal muscular atrophy, 269
Clustered regularly interspaced short palin-
dromic repeat (CRISPR)/CRISP-associ-
ated protein-9 (CRISPR-Cas9), 239–240
Clustered regularly-interspaced short palin-
dromic repeat (CRISPR) technology, 503
CMRI. See Cardiac magnetic resonance
imaging
CMT1A, inherited peripheral neuropathy, 230
Cobalamin. See Vitamin B12
Coenzyme Q10
in statin-associated myopathy, 367
deficiency of, 587, 590
treatment of, 590
Cognitive dysfunction, 179
Colchicine myopathy, 364t–365t, 369–370
Coleman block test, 196–197, 197f
Combined central and peripheral
demyelination (CCPD), 324
Complement, 144
Complement inhibitors, 152–153
Complete blood count, 10
Compound muscle action potential, 15, 16f
Compression stockings, 109
Computed tomography, in thymoma, 464
Cone snail bite, 372t
Congenital cataracts, facial dysmorphism,
and neuropathy syndrome, 283t–284t
Congenital clubfoot, 269
Congenital fiber-type disproportion (CFTD),
264, 267
Congenital fractures, 269
Congenital muscular dystrophy, 72, 516–518
Bethlem, 493t–494t, 517–518
cardiac complications in, 58
categories, 517
FKPR deficiency, 518
with integrin α-7 deficiency, 518
LAMA2-CMD-RD, 517–518, 517f
merosin deficient, 517–518, 517f
molecular pathogenesis of, 265t–266t,
493t–494t
orthopedic surgery in, 194
spinal rigidity form of, 518
syndromic, 518
treatment, 518
Ullrich, 493t–494t, 517–518

Congenital myasthenic syndromes, 476–480
clinical manifestations of, 476, 477t
diagnosis of, 476–478
electrodiagnostic test, 476
in pregnancy, 479
repetitive nerve stimulation test in,
476–478, 478f
treatment and management, 478–480
acetylcholinesterase inhibitors in, 478
albuterol in, 478–479
algorithm, 478, 479f
3,4-DAP in, 478
ephedrine in, 478–479
fluoxetine in, 479
guidelines for, 480
quinidine in, 479
Congenital myopathy (CM), 261–277
aspiration in, 271
cardiac complications of, 53t–54t
clinical features, 261
development in, 261
diagnosis of, 261–267, 265t–266t
facial deformities in, 270
gastroenterologic complications of,
267–268
genetics of, 265t–266t
genetic testing, 264
infection in, 271
neonatal forms of, 261
orthopedic deformities in, 268–270
psychosocial issues in, 272
pulmonary management in, 270–271
sleep-disordered breathing in, 271–272
therapies, 275
treatment of, 267–272
weak cough in, 270–271
Connective tissue diseases, 332
neuropathy with, 330–331
Constipation, 79b, 90
in diabetes mellitus, 104
treatment of, 113–114, 114t
docusate sodium in, 113, 114t
laxatives in, 113–114, 114t
pyridostigmine in, 114
Contractures
in congenital myopathy, 269
in Duchenne muscular dystrophy, 187. See
also Duchenne muscular dystrophy;
lower extremity contractures in.
in Emery-Dreifuss muscular dystrophy,
509, 511f
prevention of, 173
in spinal muscular atrophy, 269
Conventional genetic testing for monogenic
disorders, 229
Copper
deficiency of, 547
supplementation with, 547
bariatric surgery and, 215
Coproporphyria, 305, 306t
Copy number variants (CNV), 228
Cori-Forbes disease, 573, 574f, 575t
Coronary artery bypass graft surgery
brachial plexopathy after, 394
ulnar neuropathy after, 395
Coronavirus disease 2019 (COVID-19), 352
diagnosis and evaluation, 352
treatment and management, 352
Corticosteroids, 145–148, 147b, 154t–156t
cardiovascular effects of, 64
in carpal tunnel syndrome, 407
in chronic inflammatory demyelinating
polyradiculoneuropathy, 324, 327–328
critical illness myopathy with, 217–219
in dermatomyositis, 563–566
Corticosteroids (Continued)
in Duchenne muscular dystrophy, 64,
501–502
in Guillain-Barré syndrome, 317–318
in leprosy, 358
in Lewis-Sumner syndrome, 320t
myopathy with, 368
in polymyositis, 563–566
in sarcoidosis, 360
side effects of, 147
Cortisol, 538–539
Cortisone, 539
Cough
in congenital myopathy, 270–271
in spinal muscular atrophy, 270–271
Cough Assist, in spinal muscular atrophy,
270–271
Coxa valga deformity, in spinal muscular
atrophy, 202, 202f
Cramp-fasciculation syndrome, 415b,
423–426, 424t
Cramping, 2, 178
in amyotrophic lateral sclerosis, 256
Cranial nerves, parasympathetic activity of,
97–98
Craniofacial abnormalities, in congenital
myopathy, 270
Creatine kinase
in Becker muscular dystrophy, 499
in Duchenne muscular dystrophy, 498, 500
in lipid metabolism disorders, 584
in periodic paralysis, 434–435
in rippling muscle disease, 427–428
in statin-associated myopathy, 348
Cricopharyngeal dysfunction, treatment for,
85
Cricopharyngeal (CP) muscle, 85
Critical illness myopathy, 217–219
biopsy in, 218, 218f
Critical illness polyneuropathy, 216–217
evaluation of, 216–217
treatment of, 217
Crutches, 168–169, 169f
Cryoglobulinemia, 330–334
Cryoglobulins, 330–331
Cubital tunnel syndrome, 404–405
Cuirass ventilator, 45f–46f, 46
Cushing syndrome/disease, 529t, 538
diagnosis of, 538
treatment of, 538
Cuvitru, 148
Cyclophosphamide, 150, 154t–156t
in chronic inflammatory demyelinating
polyradiculoneuropathy, 328
complications of, 150
in dermatomyositis, 566
in myasthenia gravis, 451t–455t, 455–456,
458t
in polymyositis, 566
in vasculitic neuropathy, 330
Cyclosporine, 151, 154t–156t
in dermatomyositis, 566
in polymyositis, 566
side effects of, 151
Cyclosporine A, in myasthenia gravis,
451t–455t, 456, 458t
Cysticercosis, 358
Cystitis, hemorrhagic, 150
Cytokines, 144
Cytomegalovirus (CMV) infection, 345–346
D sudomotor dysfunction in, 104
Dantrolene
in stiff-person syndrome, 418–419, 420t
in tetanus, 422
INDEX 599
Dapsone
in leprosy, 356
neuropathy with, 356
Datura species poisoning, 372t
Deacetylase inhibitors, in Duchenne muscu-
lar dystrophy, 504
Deflazacort, 147
in Duchenne muscular dystrophy, 501–502
Dejerine-Sottas syndrome, 200
Delayed gastric emptying and gastroesopha-
geal reflux (GER), 268
Delivery, myasthenia gravis during, 463
Dementia, in amyotrophic lateral sclerosis,
181, 248, 254t
Demyelination, biopsy in, 20, 27t, 28f
Dependence, drug, 137
Depression, 179
amyotrophic lateral sclerosis and, 256, 257t
cardiovascular disease and, 131–132
distal symmetrical diabetic polyneuropathy
and, 131
Duchenne muscular dystrophy and, 506
painful polyneuropathy and, 131–132
Dermatomyositis, 554–555, 555f
amyopathic, 554
diagnosis of, 557–562, 558f
immunopathy of, 559, 560f–561f
outcome of, 568
step-by-step approach, 567
treatment of, 563–567
Dermatomyositis sine myositis, 554
Desipramine, in painful polyneuropathy,
126t, 134t
Desmopressin acetate, in orthostatic hypo-
tension, 110t, 111
Detemir, in diabetes mellitus, 534
Developmental delay, 267
Dexamethasone, in primary amyloidosis, 327
Diabetes mellitus, 528–535, 529t
acute painful neuropathy in, 530
autonomic neuropathy in, 102–104,
528–530
cardiovascular, 103–104, 528–530
gastrointestinal, 91, 104, 528–530
genitourinary, 104
sudomotor dysfunction in, 104
treatment of, 534–535
cachexia in, 530
carpal tunnel syndrome in, 530, 533
compression neuropathy in, 530–531
cranial mononeuropathy in, 531
depression in, 131–132
distal sensorimotor polyneuropathy in,
528–531, 530f, 533
erectile dysfunction in, 534–535
facial neuropathy in, 531, 533
hypoglycemia in, 104
insulin neuritis in, 530
insulin therapy in, 533–534, 534f
lumbosacral plexopathy in, 330, 333–334,
398, 530, 533
metformin therapy in, 533–534, 534f
neuropathy in, 528–535, 529t, 530b
depression with, 131–132
diagnosis of, 531–532, 531b
differential diagnosis of, 532
etiology of, 528
exercise in, 163–164
treatment of, 532–535, 532b, 534f
oculomotor neuropathy in, 531, 533
pain treatment in, 534
symptomatic treatment of, 534, 534f
thoracic radiculopathy in, 531
ulnar neuropathy in, 530–531, 533
600 INDEX
Diabetic lumbosacral radiculoplexus neurop-
athy (DLSRP), 398
3,4-Diaminopyridine
in botulism, 475
in congenital myasthenic syndromes, 478
in Lambert-Eaton myasthenic syndrome,
468–470
Diaphragmatic pacing, in amyotrophic later-
al sclerosis, 47
Diaphragm paralysis, 40–47
physical examination in, 40
pulmonary function testing in, 41
respiratory complications of, 40–51
respiratory function in, 41
sniff test in, 40–41
spirometry in, 41
symptoms of, 40
Diarrhea
in diabetes mellitus, 104
treatment of, 113, 113t
clonidine in, 113, 113t
diphenoxylate in, 113, 113t
loperamide in, 113, 113t
Diazepam
in organophosphate intoxication, 485–486
in stiff-person syndrome, 418–419, 420t
in tetanus, 422
Dichloracetate, in mitochondrial myopathy,
591
Dichlorphenamide, in periodic paralysis,
435t, 436
Didanosine, neuropathy with, 366–367
Diet
in glycogen storage disease type V, 580–581
in lipid metabolism disorders, 585
in mitochondrial myopathy, 591
Diffuse erythematous facial rash, 5f
Diflunisal, 105
Diphenoxylate, in diarrhea, 113, 113t
Diphtheria, sensorimotor neuropathy with,
107
Direct-to-consumer (DTC) genetic tests, 232
Distal acquired demyelinating sensorimotor
neuropathy (DADS), 321
Distal muscular dystrophies, 509, 510t, 511f
Diuretics, in hyperkalemic periodic paralysis,
435–436
DMD, 492, 493t–494t, 495–496, 495f
DMPK, 514
DNA-based therapies, 239–240
DNA sequencing technique, 228
Docetaxel, neuropathy with, 364t–365t
Docusate sodium, 113, 114t
Domperidone, in gastroparesis, 88, 112–113,
113t
Dopamine, pain and, 124–125
Doxepin, in painful polyneuropathy, 126t
Doxycycline
in Lyme neuroborreliosis, 354
in oculopharyngeal muscular dystrophy,
516
Droopy shoulder syndrome, 396
Dropped head syndrome, 13f, 13b
Droxidopa, in orthostatic hypotension, 110t,
111
Drug(s). See also specific drugs
addiction to, 137–138
autonomic neuropathy with, 108
dependence on, 137
in inherited neuropathy, 294–296
neuropathy with, 363–367, 364t–365t
orthostatic hypotension with, 109–111
in porphyric neuropathy, 305–307
tolerance to, 137
Dry eye, in diabetes mellitus, 104
Duchenne muscular dystrophy, 167f,
492–506
behavioral abnormalities in, 506
bone loss in, 178
calf hypertrophy, 186–187, 188f
calf hypertrophy in, 498, 499f
cardiac complications of, 52, 53t–54t, 499
echocardiography in, 61–63, 62f
electrocardiography in, 59–60, 505
evaluation of, 58–64, 59f–60f, 62f
genetic-based therapies, 69–70
heart transplantation for, 69
Holter monitoring in, 60–61, 61f
magnetic resonance imaging in, 63
monitoring of, 70, 71t
pathology of, 64
preoperative assessment of, 69
respiratory therapy, 69
treatment of, 64–69, 65f, 65t, 505
cardiac pharmacologic therapies for,
64–67, 65f, 65t
carriers of, 500
cardiac complications in, 54–55, 70, 71t
clinical manifestations of, 498–500, 499f
creatine kinase in, 500
diagnosis of, 498–501, 499f
dysphagia in, 81
emotional abnormalities in, 506
female carriers of, 500
gastric emptying in, 85–88
gastrointestinal tract involvement in, 499
genetic counseling in, 505–506
genetic testing in, 500
Gowers sign/test in, 186–187, 187f, 498
incidence of, 492
intelligent quotient in, 499
laboratory tests in, 500
lower extremity contractures in, 188–191
Achilles tendon lengthening for, 189,
189f
Achilles tendon release for, 189, 189f
ambulatory period approach to, 188,
189f
exercise therapy for, 189
hip flexor release for, 189, 189f
palliative approach to, 188
posterior tibial tendon transfer for, 190,
190f
rehabilitative approach to, 188
Meryon sign in, 186–187
molecular pathogenesis of, 492–498,
493t–494t
muscle biopsy in, 500–501, 500f–501f
natural history of, 187f
neuropsychological involvement in, 499
noninvasive and invasive ventilatory sup-
port, 174
Ober test in, 186–187
orthopedic surgery in, 186–187
Achilles tendon lengthening in, 189,
189f
Achilles tendon release in, 189, 189f
hip flexor release for, 189, 189f
lower extremity, 188–191, 189f
physical examination for, 186–187, 188f
posterior tibial tendon transfer for, 190,
190f
spinal, 190–191, 191f
treatment, 187
orthopedic treatment in
perioperative management and,
208–211
pathophysiology of, 495–498, 496f
calcium in, 497
dystrophin and role in satellite cells, 498
Duchenne muscular dystrophy (Continued)
dystrophin protein in, 495–496
fibrosis and muscle regeneration in,
497–498
immunologic response in, 497
mechanical membrane fragility in,
496–497
primary and secondary (downstream)
events in, 496, 496f
signaling functions in, 497
respiratory function in, 499. See also Mus-
cular dystrophy; respiratory complica-
tions of.
scoliosis in, 190–191, 191f–192f, 505
sleep quality in adults with, 174
spinal deformity in, 190–191, 191f–192f,
506
Thomas test in, 186–187
treatment of, 501–506
antisense oligonucleotides, 502
cell energy restoration, 504
cell therapy in, 503–504
deflazacort in, 501–502
different approaches in, 502–504, 503f
edasalonexent in, 504
exercises in, 505
gene therapy in, 503
givinostat in, 504
idebenone in, 504
inhibiting inflammation/fibrosis, 504
muscle growth and regeneration, 504
pamrevlumab in, 504
pharmacologic, 501–502, 503f, 505
prednisone in, 501–502, 504
protein up-regulation in, 504
regulating calcium balance, 504
rehabilitation in, 505
rimeporide in, 504
stop codon-read-through mutation
suppression approach, 502
ventilatory support in, 504–505. See
also Muscular dystrophy; respira-
tory complications of; ventilatory
support in.
wheelchair use in, 173
Duel-energy x-ray absorptiometry (DEXA)
scan, 33
Duloxetine
in fibromyalgia, 133
in HIV-associated distal sensory polyneu-
ropathy, 349
in painful polyneuropathy, 126t, 134t,
135–136
Dynamometry, 4
Dysarthria, 174–176
identification of, 174
augmentation prosthesis in, 175
communication systems in, 175, 175t
in motor neuron disease, 174–175
in muscular dystrophies, 176
in myopathies, 176
in neuromuscular junction disorders,
175–176
in peripheral neuropathies, 176
Dysautonomia
in autoimmune autonomic ganglionpathy,
108
in botulism, 109
in chronic demyelinating polyradiculoneu-
ropathy, 108
in Guillain-Barré syndrome, 107–108
in Lambert Eaton myasthenic syndrome,
108–109
in myasthenia gravis, 109
DYSF, 507

Dysferlinopathy, 507, 507f
Dyspepsia, 79b, 85–88
Dysphagia, 79–80, 79b
in amyotrophic lateral sclerosis, 209
anal sphincter constipation, 90
chronic intestinal pseudo-obstruction,
88–90
clinical manifestations of, 79–80
enteral nutrition, 85, 86t–87t
esophageal, 79
evaluation of, 82–85, 82f
in inflammatory myopathy, 81
large intestine, 90
liver and the hepatobiliary system, 91
management, 83
in motor neuron disorders, 80
in muscular dystrophy, 80–81
in neuromuscular junction disorders, 81
oropharyngeal, 79, 176
compensatory strategies in, 177
identification of, 176–177
surgical management of, 177
pathogenesis of, 79
in peripheral neuropathy, 81–82
prevalence of, 80t
in primary muscular disorders, 80–81
role of feeding tubes, 83–84
small intestine, 88–90
treatment for cricopharyngeal dysfunc-
tion, 85
treatment options for aspiration, 85
weight loss and, 81
Dysthymic disorder, in Duchenne muscular
dystrophy, 506
Dystrophin deficiency, 496, 496f. See also
Duchenne muscular dystrophy.
Dystrophin, in Duchenne muscular dystro-
phy, 498
E treatment of, 66f
Eastern coral snake bite, 372t
Echocardiography, 61–63
in Duchenne muscular dystrophy, 61, 62f
in preclinical disease, 61–62
Eculizumab, 152
Edasalonexent, 153
in Duchenne muscular dystrophy, 504
Edrophonium test, 446–447, 449t
EDX patterns, 330
Electrical bioimpendance, 33
Electrocardiography (ECG), 59–60
in Duchenne muscular dystrophy, 59, 59f,
505
in limb-girdle muscular dystrophy, 60
in myotonic dystrophy, 59, 60f
Electroencephalograph (EEG)-based
brain-computer interface, 175, 176f
Electromyography (EMG), 15–18, 17t, 19t
in amyotrophic lateral sclerosis, 249–250,
249f
in brachial plexopathy, 395
in cervical radiculopathy, 383
complex repetitive discharges on, 18, 19f
in cramp fasciculation syndrome, 424t,
425–426
in critical illness myopathy, 217–219
in critical illness polyneuropathy, 214
in diabetes mellitus, 531
fibrillation potential on, 15–18, 18f
in hyperparathyroidism, 536
in inclusion body myositis, 556
in Isaacs syndrome, 424t, 425
limbic encephalitis, 424t
in Lyme neuroborreliosis, 347–348
in Morvan syndrome, 424t
Electromyography (Continued)
motor unit action potential on, 18, 19f
in myasthenia gravis, 447–448
myokymic discharges on, 18, 425
myotonic discharges on, 18, 19f
neuromyotonic discharges on, 425
in nondystrophic myotonia, 430
in periodic paralysis, 434
in poliomyelitis, 19f
positive sharp waves on, 15–18, 18f
in pure upper motor neuron syndrome,
252–253
in radiculopathy, 381
in rippling muscle disease, 428
in Schwartz-Jampel syndrome, 430
single-fiber, 18, 20f
small polyphasic motor units on, 18, 18f
in stiff-person syndrome, 415–416, 417b
Electrophysiologic tests, 15–18, 17t
blink reflex, 15
in cardiac complications, 63–64
electromyography, 15–18, 17t, 18f–19f, 19t.
See also Electromyography (EMG).
nerve conduction, 15, 17f, 17t. See also
Nerve conduction study.
repetitive nerve stimulation test, 15, 17t,
19f. See also Repetitive nerve
stimulation (RNS) test.
Emery-Dreifuss muscular dystrophy,
509–511
autosomal dominant, 509
cardiac complications of, 53t–54t, 56–57
cardiac complications of, 53t–54t, 56–57
heart transplantation for, 69
implantable cardioverter defibrillator
implantation for, 68–69
left ventricular assist devices, 69
monitoring of, 71t, 72
pacemaker implantation for, 68
contractures in, 509, 511f
molecular pathogenesis of, 493t–494t,
495f, 509
orthopedic surgery in, 191–193
perioperative management in, 208–211
stroke in, 67–68
treatment of, 511
X-linked, 53t–54t, 56–57, 509
Enalapril, in Duchenne muscular
dystrophy–related cardiomyopathy, 66
Encephalitis, West Nile virus, 350
Endoscopy, in dysphagia, 83
β-Enolase deficiency, 575t, 577
Enteral nutrition, dysphagia, 85, 86t–87t
Enteric nervous system, 98–99
Entrapment neuropathy. See Focal
neuropathy
Enzyme(s)
deficiencies of. See Glycogen storage
diseases; Lipid metabolism disorders
testing for, 10, 17t
Enzyme replacement therapy
in Fabry disease, 301
in Pompe disease, 579–581
Eosinophilic fasciitis, 557
Ephedrine
in congenital myasthenic syndromes,
478–479
in orthostatic hypotension, 110t, 111
Epilepsy, in stiff-person syndrome, 414
Epworth Sleepiness Scale, 132
Equinovarus deformity, in spinal muscular
atrophy, 269
Erasmus GBS Outcome Scale, 318
Erb palsy, 395
INDEX 601
Erectile dysfunction
in diabetes mellitus, 104, 534–535
treatment of, 112, 112t
alprostadil in, 112, 112t
phosphodiesterase type 5 inhibitors in,
112, 112t
Erythema migrans, 353
Erythrocyte sedimentation rate, 10
Erythromycin
in dyspepsia, 88
in gastroparesis, 112, 113t
Erythropoietin
in Friedreich ataxia, 301
in orthostatic hypotension, 110t, 111
Esmolol, in tetanus, 423
Esophagography, in dysphagia, 82, 82f
Etanercept, 153, 154t–156t
Evaluation. See Clinical evaluation
Excessive saliva, 256–257
Exercise testing
in mitochondrial myopathy, 587–588, 588f
in nondystrophic myotonia, 430–431,
431b, 432t
Exercise/training, 161–164, 161t
aerobic, 161t, 163
in amyotrophic lateral sclerosis, 163–164,
248
balance, 161t, 163–164
concentric, 162
in diabetes mellitus, 103–104
in Duchenne muscular dystrophy, 189, 505
dynamic, 162
eccentric, 162
flexibility, 161, 161t, 164
isokinetic, 162
isotonic, 162
prescription for, 164
static (isometric), 162
strength, 161t, 162–164
Exon 51 skipping, 234–235
Exon-skipping drugs, 70
Explorative laparotomy, 90
Extensor hallucis longus tendon transfer, in
cavovarus deformity, 198–199, 199f
Eye gaze, 170
Eyes
dry, 104
examination of, 4, 11f–12f
F
Fabere test, 389
Fabry disease, 301–303
clinical presentation of, 301–302
diagnosis of, 302
pain in, 285
treatment of, 302–303
Facial deformities, 270
Facial neuropathy
in diabetes mellitus, 531
in Lyme neuroborreliosis, 353
Familial amyloidic polyneuropathy, 297–298
clinical presentation of, 291
diagnosis of, 297–298
treatment of, 298
Familial dysautonomia (HSAN type 3),
296–297
Family caregivers, 180–181
Fasciitis, biopsy in, 23f–24f
Fascioscapulohumeral muscular dystrophy,
193f, 512–514
vs. amyotrophic lateral sclerosis, 248
cardiac complications of, 53t–54t, 57
clinical features of, 512–513, 512f–513f
congenital onset of, 513, 513f
diagnosis of, 513
602 INDEX
Fascioscapulohumeral muscular dystrophy
(Continued)
early-onset, 194
molecular pathogenesis of, 493t–494t, 495f
natural history of, 187f
orthopedic surgery in, 193–194, 193f–194f
scapulocostal fusion in, 193–194, 194f
treatment of, 513–514
Fatigue, 2
Fc-gamma receptors (FcγRs), 329
FCMD, 495f
Fecal incontinence, 79b, 90
Feeding
in congenital myopathy, 267
gastrostomy for. See Gastrostomy
in spinal muscular atrophy, 267
Femoral neuropathy, 402t
FHL1 mutation, 56
Fibrosis, 416f
in Duchenne muscular dystrophy,
497–498, 504
Fibular head, peroneal neuropathy at, 402t,
407–408
Fish poisoning, 371–373, 372t
Fist clenching, in orthostatic hypotension,
109
FKRP, 508
Flexibility exercise/training, 161, 161t, 164
Flexible silicone tracheostomy tubes, 45
Flexor carpi ulnaris (FUC) muscle, 20–33,
36f
Flexor digitorum profundus (FDP), 20–33,
36f
Floppy infant
causes of, 9b
physical examination of, 9f
Fludrocortisone, in orthostatic hypotension,
110, 110t
Fluorescent in situ hybridization (FISH), 228
Fluoxetine, in congenital myasthenic syn-
dromes, 479
Focal atrophy in ulnar innervated muscles, 4
Focal neuropathy, 400–401
anterior interosseous nerve, 402t
femoral cutaneous nerve, 402t
femoral nerve, 402t
median nerve, 402t, 403
obturator nerve, 402t
pathophysiology of, 400–401
peroneal nerve, 402t, 407–408
posterior interosseous nerve, 402t
radial nerve, 402t, 407
sciatic nerve, 402t
ulnar nerve, 401, 402t, 404–407
Folic acid
deficiency of, 546
in fascioscapulohumeral muscular dystro-
phy, 514
Foot (feet)
cavovarus deformity of, 197b. See also Char-
cot-Marie-Tooth disease; cavovarus
foot deformity in.
rehabilitation for, 174
Foot-ankle orthoses, 167–168, 168f
Forced vital capacity (FVC), 83
Forearm orthoses, 166
Fracture
in congenital myopathy, 269
in osteoporosis, 178, 186–191
in spinal muscular atrophy, 269
Frataxin, 283t–284t, 299
Friedreich ataxia, 283t–284t, 298–301, 300f
cardiac complications in, 53t–54t, 57
monitoring of, 71t, 72
clinical presentation of, 298–299
Friedreich ataxia (Continued)
diagnosis of, 299
perioperative management of, 209
scoliosis in, 201, 209
treatment of, 299–301
Froment sign, 3–4, 8f
Fukutin-related protein deficiency, 508, 518
Fukuyama muscular dystrophy, molecular
pathogenesis of, 493t–494t
FXN (frataxin gene), 299
G in hereditary sensory and autonomic
GAA, 573
Gabapentin
in HIV-associated distal sensory polyneu-
ropathy, 349
in painful polyneuropathy, 126t, 134t–135t,
136
in stiff-person syndrome, 418–419,
420t
Gabapentinoids, 133
Gadolinium enhancement of lumbosacral
roots, 20, 33f
Gait
analysis of, 3–4
ataxic. See Friedreich ataxia
in Duchenne muscular dystrophy, 498
Gamunex, 148
Garin-Bujadoux-Bannwath syndrome,
353
Gastric emptying
disorders of, 85–88
in spinal muscular atrophy, 268
Gastric pacing, in gastroparesis, 88
Gastric peroral endoscopic myotomy
(G-POEM), 88
Gastroesophageal reflux (GER), in spinal
muscular atrophy, 268
Gastrointestinal dismotility, 208
Gastroparesis, 79b, 85–87
in diabetes mellitus, 104
treatment of, 112–113
clonidine in, 113, 113t
domperidone in, 112–113, 113t
erythromycin in, 112, 113t
metoclopramide in, 112, 113t
Gastrostomy, 83–84
in children, 84
in chronic intestinal pseudo-obstruction,
89
contraindications to, 84
in spinal muscular atrophy, 267
survival after, 84
GBE1, 573
Gene-based therapies, 240
Gene editing, 239–240
Gene replacement therapy, 239
Gene therapy
in Charcot-Marie-Tooth disease, 289
in Duchenne muscular dystrophy, 503
in Fabry disease, 303
in mitochondrial myopathy, 591
in oculopharyngeal muscular dystrophy,
516
in spinal muscular atrophy, 264
Genetic approaches to NMD treatment,
232–241
Genetic-based therapies, Duchenne muscular
dystrophy, 69–70
Genetic counseling, in Duchenne muscular
dystrophy, 505–506
Genetic Information Nondiscrimination Act
of 2008, 232
Genetic newborn screening, 231
Genetics, 225–227
Genetic testing, 33–37, 227–232
in Charcot-Marie-Tooth disease, 280t–282t,
291–293, 292f
clinical assessment, 229–230
cost of genetic interventions, 240–241
and development, 225
in Duchenne muscular dystrophy, 500
ethical, 240–241
ethical and regulatory aspects of, 231–232
in familial amyloidic polyneuropathy, 298
in Friedreich ataxia, 282–284
neuropathy, 296
methods of, 227–231, 227t
in myotonic dystrophy, 515
policy, 240–241
regulatory aspects of, 240–241
strategies for, 229
Genome, structure of, 225–226, 226f
Gentamicin, in glycogen storage disease type
V, 581
Ghrelin agonists, in gastroparesis, 88
Giant axonal neuropathy, 283t–284t
Givinostat, in Duchenne muscular dystrophy,
504
Glargine, in diabetes mellitus, 534
Glipizide, in diabetes mellitus, 533–534
Globoid-cell dystrophy, 301, 303
Glucose, blood, 10
Glucose loading test, in hypokalemic period-
ic paralysis, 435
α-Glucosidase deficiency (Pompe disease),
572–573, 574f, 575t, 576f, 578f
cardiac complications in, 53t–54t, 57
treatment of, 579–580
Gluten encephalopathy, 331
Glyburide, in diabetes mellitus, 534f
Glycogen-branching enzyme 1 deficiency
(Andersen disease), 573–574, 574f, 575t
Glycogen-debranching enzyme deficiency
(Cori-Forbes disease), 573, 574f, 575t
Glycogen storage diseases, 572–581, 574f
diagnosis and evolution, 574f, 577–579,
578f
rhabdomyolysis with, 577, 591–592, 592b
treatment of, 579–581
type I, 575t
type II (Pompe disease), 572–573, 574f,
575t, 576f, 578f
treatment of, 579–580
type III (Cori-Forbes disease), 573, 574f,
575t
type IV (Andersen disease), 573–574, 574f,
575t
type V (McArdle disease), 574–576, 574f,
575t, 578f–579f
treatment of, 580–581, 581b
type VII (Tarui disease), 575t, 576, 580f
type VIII, 575t, 576–577
type IX, 574f, 575t, 577
type X, 575t, 577
type XI, 575t, 577
type XII, 575t, 577
type XIII, 575t, 577
type XIV, 575t
GNE, 556–557
GNE myopathy, 509
Gold, in peripheral neuropathies, 423–424
Gottron rash, 554, 555f
Gottron sign, 5f
Gower sign, 3–4, 6f
Gowers sign/test, in Duchenne muscular
dystrophy, 186–187, 187f, 498
Granulomatous diseases of nerve and mus-
cle, 359–360

Graves’ disease, 529t, 535
Grip myotonia, 14f
Guanidine
in botulism, 475
in Lambert-Eaton myasthenic syndrome, 467
Guanylate cyclase-C agonist (GCC), 90
Guillain-Barré syndrome, 312–317
acute respiratory failure in, 47–48
axonal variants of, 313
Brighton Criteria, 314t
diagnosis of, 316–317, 316f
differential diagnosis of, 317, 317t
dysautonomia with, 107–108
electrophysiology, 316
immunotherapy in, 319, 327t
intubation in, 48
outcome of, 316
pathogenesis, 315–316
perioperative management in, 208–211
supportive care in, 317
treatment of, 317–318
vs. West Nile virus acute flaccid paralysis,
345
Guyon’s canal, ulnar nerve entrapment in,
407
Gyromitra poisoning, 372t
GYS1, 577
H in Duchenne muscular dystrophy, 60–61,
Hand-finger orthoses, 166, 166f
hATTR, 235
Health-related testing, 232
Heart disease. See Cardiac disease
Heart failure, 67–68
antiarrhythmics in, 67
anticoagulation in, 67–68
cardiac transplantation in, 69
cardioversion in, 68
implantable cardioverter defibrillator
implantation in, 68–69
pacemaker implantation in, 68
Heart rate
deep breathing effect on, 100–101, 100f
in diabetes mellitus, 103–104, 531–532
Heart transplantation, 69
Heliotrope rash, child with dermatomyositis,
5f
Hematin, 306–307
Hematopoietic stem cell transplantation
in adrenoleukodystrophy, 301, 303
in lysosomal leukodystrophy, 303
Hemorrhagic cystitis, cyclophosphamide-­
related, 150
Hereditary metabolic myopathy, 572–594.
See also Glycogen storage diseases; Lipid
metabolism disorders; Mitochondrial
myopathy.
Hereditary motor and sensory neuropathies
(HMSNs), 278, 280t–282t. See also Char-
cot-Marie-Tooth disease.
Hereditary motor neuropathy, 291–296. See
also Spinal muscular atrophy.
Hereditary neuralgic amyotrophy, 279
Hereditary neuropathy, 278–311
diagnosis of, 278–285
drug development for, 285–291, 287f
genetics of, 286f
genetic testing for, 282–284
nonsyndromic, 291–297. See also
­Charcot-Marie-Tooth disease; Heredi-
tary motor neuropathy; Hereditary
sensory and autonomic neuropathy.
online database on, 278
prevalence, 225
syndromic (multiple system), 283t–284t, 285
Hereditary neuropathy with liability to
pressure palsies, 28f, 393
Hereditary sensory and autonomic
­neuropathy, 106, 106t, 280t–282t, 296–297
clinical features of, 280t–282t, 296
diagnosis of, 296
genetics of, 280t–282t
I, 106, 106t
II (congenital sensory neuropathy), 106,
106t
III (familial dysautonomia, Riley-Day
syndrome), 106, 106t
IV (congenital insensitivity to pain with
anhidrosis), 106, 106t
treatment of, 296–297
V (congenital insensitivity to pain with
partial anhidrosis), 106, 106t
Hereditary spastic paraplegia, 283t–284t
vs. amyotrophic lateral sclerosis, 253
Hexacarbon neuropathy, 362–363
Hip dislocation, 269
in congenital myopathy, 269
in spinal muscular atrophy, 269
Hip flexor release, in Duchenne muscular
dystrophy, 189f, 190
Hizentra, 148
Hoffmann syndrome, 536
Holter monitoring, 60–61
61f
Home modifications, 172–173
Horner syndrome, 4, 12f
Hospice, 181–182
H-reflex, 15
HSPG2, 430
Human immunodeficiency virus (HIV)
infection
autonomic neuropathy with, 107
inclusion body myositis with, 560–561
lumbosacral polyradiculopathy with, 391
myopathy with, 345–350, 346t
clinical presentation of, 347
diagnosis of, 345–349
treatment of, 349–350
neuropathy with, 345–350, 347t
clinical presentation of, 347
diagnosis of, 345–349
treatment of, 349–350
polymyositis with, 560–561
Human T-lymphotrophic virus type 1
infection, 356–358
inclusion body myositis and, 560–561
polymyositis and, 560–561
Hutchinson’s triad, 586
Hydrocortisone, 539
Hyperaldosteronism, 538–539
Hypereosinophilic syndrome, 557
Hypermagnesemia-induced paralysis, 486
cause of, 486
diagnosis and evaluation, 486
treatment and management, 486
Hyperparathyroidism, 529t, 536–537
Hyperthyroidism, 529t, 535
Hypobetalipoproteinemia, 283t–284t
Hypocalcemia, 537–538
Hypoglycemia, in diabetes mellitus, 104
Hypoparathyroidism, 529t, 537–538
Hypopituitarism, 529t
Hypotension, orthostatic, 99t
in diabetes mellitus, 104
testing for, 100, 100f, 104
treatment of, 109–111
desmopressin acetate in, 110t, 111
ephedrine in, 110t, 111
erythropoietin in, 110t, 111
INDEX 603
Hypotension, orthostatic (Continued)
midodrine hydrochloride in, 110–111,
110t
nonpharmacologic, 109–110
pharmacologic, 110, 110t
pseudoephedrine in, 110t, 111
pyridostigmine in, 110t, 111
Hypothyroidism, 529t, 535–536
I
Iatrogenic causes of PPs, 133
Idebenone, 299
in Duchenne muscular dystrophy, 504
in Friedreich ataxia, 299
IgG antagonists, 153
IgM-MGUS neuropathy with anti-MAG anti-
bodies, 322
Imaging, 20
Imipramine, in painful polyneuropathy, 126t,
133, 134t
Immune checkpoint inhibitors, 370
Immune globulin
in dermatomyositis, 566
in Guillain-Barré syndrome, 330
human botulism, 474–475
intravenous, 154t–156t
in celiac disease, 331
in chronic inflammatory demyelinating
polyradiculoneuropathy, 327
in critical illness polyneuropathy, 217
in HIV-AIDP, 349
in HIV-associated myositis, 345
in Isaacs syndrome, 426
in Lambert-Eaton myasthenic syndrome,
469
in myasthenia gravis, 453t–455t,
457–458, 458t
in myasthenic crisis, 461
in stiff-person syndrome, 420t
in West Nile virus infection, 350–351
in polymyositis, 566
tetanus, 422
Immune-mediated inflammatory myopathy.
See Dermatomyositis; Inclusion body
myositis; Polymyositis
Immune system, in Duchenne muscular
dystrophy, 497
Immunity, 143
Immunoglobulin, intravenous, 148
Immunoglobulin A (IgA), 143–144
deficiency of, 148
Immunoglobulin E (IgE), 143–144
Immunoglobulin G (IgG), 143–144
Immunoglobulin M (IgM), 143–144
Immunotherapy, 145–153
alemtuzumab for, 152, 154t–156t
anakinra for, 153, 154t–156t
antithymocyte globulin for, 154t–156t
anti–tumor necrosis factor-α agents for,
153, 154t–156t
azathioprine for, 149, 154t–156t. See also
Azathioprine.
complement inhibitors, 152–153
corticosteroids for, 145–148,
154t–156t. See also ­Corticosteroids.
cyclophosphamide for, 150, 154t–156t. See
also Cyclophosphamide.
cyclosporine for, 151, 154t–156t. See also
Cyclosporine.
etanercept for, 153, 154t–156t
evidence-based application of, 153–154,
154t–156t
infliximab for, 153, 154t–156t
interferon-β-1a for, 153,
154t–156t
604 INDEX
Immunotherapy (Continued)
intravenous immune globulin for. See also
Immune globulin; intravenous.
intravenous immunoglobulin for, 148,
154t–156t
methotrexate for, 149–150, 154t–156t. See
also Methotrexate.
mycophenolate mofetil for, 150–151,
154t–156t. See also Mycophenolate
mofetil.
natalizumab for, 152
ocrelizumab for, 152
plasma exchange for, 148–149, 154t–156t.
See also Plasma exchange.
rapamycin for, 151, 154t–156t
rituximab for, 151–152, 154t–156t. See also
Rituximab.
tacrolimus for, 151, 154t–156t. See also
Tacrolimus.
Implantable cardioverter defibrillator, 68–69
Inclusion body myositis (IBM), 163, 252,
556–557, 557f
diagnosis of, 24f, 557–562, 558f
immunopathology of, 559–561
misdiagnosis of, 558–559
nonimmune features of, 562–563, 564f
physical examination in, 7f
sporadic, 556–557
supportive therapy, 567
treatment of, 567
Incontinence, fecal, 79b, 90
In-exsufflator, in muscular dystrophy, 43
Infarction, spinal cord, 214
Infection
autonomic neuropathy with, 107
in congenital myopathy, 271
cyclophosphamide-related, 150
gastrostomy tube placement and, 84
in spinal muscular atrophy, 271
Inflammation, inhibition of, 504
Inflammatory myopathies, 18–20, 23f–24f
Inflammatory Neuropathy Cause and Treat-
ment (INCAT) Group, 326
Infliximab, 153, 154t–156t
Influenza infection, myopathy with, 357
Inheritance patterns, 226–227
Inotersen, 105
Insulin, in diabetes mellitus, 533–534, 534f
Insulin loading test, in hypokalemic periodic
paralysis, 435
Integrin α-7 deficiency, 518
Intelligent quotient, in Duchenne muscular
dystrophy, 499
Intensive care unit, 215–219
critical illness myopathy in, 217–219,
218f
critical illness polyneuropathy in,
216–217
prolonged neuromuscular junction block-
ade in, 219
Interferon, 144
Interferon-β-1a for, 153, 154t–156t
Interleukins, 144
Intermediate syndrome, in organophosphate
intoxication, 483, 483t
Intervertebral disk
anatomy of, 380, 381f
degenerative disease of, 380. See also Radic-
ulopathy.
pressure in, 380
Intestinal pseudo-obstruction, 88–90
Intubation
in Guillain-Barré syndrome, 48
in myasthenia gravis, 48
Iron chelation therapy, 299
Isaacs syndrome, 424–425
diagnosis of, 424–425, 424t
treatment of, 426
Ischemic forearm test, 577
Ischemic monomelic neuropathy, 540–541
J thy, 126t, 134t, 136
Jamaica, peripheral neuritis of, 547
Jaw deformities, 270
J-beta, 559–560
Jellyfish sting, 372t
Jerking stiff-person syndrome, 415
K
KCNJ2, 433–434
Kearns-Sayre syndrome, 587, 590
Kidneys
cyclosporine effects on, 151
disease of. See also Uremia.
autonomic neuropathy with, 105
in Fabry disease, 301–302
Klumpke palsy, 395
Kocher-Debré-Semelaigne syndrome, 536
Krabbe disease, 303–304
diagnosis of, 303
treatment of, 303–304
L type 1C (caveolinopathy), 509
Labor, myasthenia gravis during, 463
Lactate dehydrogenase deficiency, 575t, 577
Lactate, in mitochondrial myopathy,
587–588, 588f
Lactulose, 113–114, 114t
Lambert-Eaton myasthenic syndrome,
465–471
clinical triad of, 465–466
diagnosis of, 467, 467f
drug effects in, 470
dysarthria in, 175
dysautonomia in, 108–109
dysphagia in, 81
of elderly patient, 466–467
vs. lower motor neuron syndrome, 252
vs. myasthenia gravis, 465–466, 466t
paraneoplastic, 466–467, 470
treatment of, 467–471
acetylcholinesterase inhibitors in, 469
aminopyridine in, 468
cortisosteroids in, 469
3,4-diaminopyridine, 468–469
guanidine hydrochloride in, 467–468
guidelines for, 470–471, 471f
immunotherapy, 469
intravenous immune globulin in, 469
MLOS (MG-LEMS overlap syndrome),
470
tumor, 470
Lamotrigine, in HIV-associated distal sensory
polyneuropathy, 349
Large intestine, 90
treatment, 90
Large joint contractures, 269
Laxatives, 113–114, 114t
stimulant, 114, 114t
LDH deficiency, 577
Lead poisoning, 362
Left ventricular assist devices (LVADs), 69
Leg crossing, in orthostatic hypotension, 109
Leigh disease, 283t–284t
Leprosy, 107, 355–356, 355f
Leprous neuropathy, 355–356, 355f
Leukodystrophy, 283t–284t, 303–304
Levetiracetam, in stiff-person syndrome,
418–419, 420t
Levorphanol, in painful polyneuropathy, 137
Levothyroxine, in hypothyroidism, 536
Lewis-Sumner syndrome, 321
LGMD, 495f
Lhermitte sign, in cervical radiculopathy,
384–385
Lidocaine, topical, in painful polyneuropa-
Limb-girdle muscular dystrophy, 193f,
506–509
cardiac complications of, 53t–54t, 55
echocardiography in, 63
electrocardiography in, 60
heart transplantation for, 69
magnetic resonance imaging in, 63
monitoring of, 70–72, 71t
treatment of, 66f
clinical manifestations of, 506, 506f
distal muscular dystrophies, 509, 510t
molecular pathogenesis of, 493t–494t,
495f
natural history of, 187f
orthopedic surgery in, 193, 193f
perioperative management in, 208–211
quadriceps sparing myopathy, 509
type 1A (myotilinopathy), 508
type 2A (calpainopathy), 506–507
type 1B, 55
type 2B (dysferlinopathy), 507, 507f
type 2C, 2D, 2E, 2F, 507–509
type 2G (telethonin), 508
type 2I (fukutin-related protein deficien-
cy), 55, 508
cardiac complications of, 55
type 2J (titin), 508
type 2L (R12 anoctamin 5 related), 508
Lipid metabolism disorders, 581–586, 582t
clinical presentation of, 583–584
diagnosis of, 584–585, 584f
outcome of, 585–586
treatment of, 585, 585b
Lisinopril, in Duchenne muscular dystrophy–
related cardiomyopathy, 66
Liver
failure of, autonomic neuropathy with, 105
and hepatobiliary system, 91
transplantation of, in familial amyloidic
polyneuropathy, 298
Loperamide, in diarrhea, 113, 113t
Low back pain. See Lumbosacral radiculop-
athy
Lower extremity robotics, 168
Lubiprostone, 90
Lumbar spine, stenosis of, 383f
Lumbosacral plexopathy, 398
anatomy of, 398f
in diabetes mellitus, 399, 530, 533
diagnosis of, 399–400
neoplastic, 399
radiation-related, 399
treatment of, 400
Lumbosacral radiculopathy, 387–391, 398
clinical features of, 387–389, 388t
diagnosis of, 389–390
disk herniation, 390
evaluation, 389–390
imaging in, 390
lateral recess stenosis and, 388t, 389
management, 390–391
neurologic examination in, 389
nonorganicity testing in, 389
pain in, 387, 388t
straight leg raising test in, 389
treatment of, 390–391
vs. vascular claudication, 389–390

Lyme neuroborreliosis, 352–355
diagnosis of, 353–354
treatment of, 354–355
Lymphocytes
B, 143–144
clonal deletion of, 144
T, 143
autoreactive, 144
clonal deletion of, 144
regulatory, 144
Lysosomal diseases, 237
Lysosomal leukodystrophy, 303–304
Lysosomal storage diseases, 301–303
M 534f
Machado-Joseph disease, 283t–284t
MADSAM neuropathy (Lewis Sumner syn-
drome), 321, 328
Magnesium, excess of, 486
Magnesium sulfate, in tetanus, 422
Magnetic resonance imaging (MRI), 20, 30f
in carpal tunnel syndrome, 403
in cervical spondylotic myelopathy, 386
in common peroneal neuropathy, 408
in Lyme neuroborreliosis, 354
in plexopathy, 391
in stiff-person syndrome, 416f
T1 imaging, 20, 34f
T2 imaging, 20, 35f
in ulnar neuropathy, 406
in West Nile virus infection, 350–351
Magnetic resonance spectroscopy, in glyco-
gen storage diseases, 579, 579f–580f
Malignant hyperthermia-like syndrome, in
muscular dystrophy patient, 210, 212b
Malignant hyperthermia syndrome, 211–213
clinical manifestations of, 213b, 215
disease associations in, 211, 212b
in Duchenne muscular dystrophy, 505
mechanisms of, 211, 212f
medication associations in, 212b
medications, 212b
in muscular dystrophy patient, 210
preoperative evaluation for, 208
treatment of, 213, 213b
Malnutrition, 542–548. , See also specific
vitamins
autonomic neuropathy with, 105–106
evaluation of, 81–82
Manometry
anal, 90–91
esophageal, 82–83
Marine toxins, 371–373, 372t
Massively parallel sequencing, 229
McArdle disease, 574–576, 574f, 575t,
578f–579f
treatment of, 580–581, 581b
McGill Pain Questionnaire, 127
Median nerve, 20–33, 36f
Median neuropathy, 8f, 402t, 403
Medical foods, 85
Medical history, 2–3
Medical marijuana, in painful polyneuropa-
thy, 138–139
Medication-induced neuropathies, 363–367
Medium-chain acyl-CoA dehydrogenase
deficiency, 582t, 584
Mees lines, 3, 6f
Meglitinides, in diabetes mellitus, 533–534
MELAS (mitochondrial encephalomyopa-
thy with lactic acidosis and strokelike
episodes), 587, 590–591
Membrane attack complex, 144
Mendelian disorders, 226
Meningitis, West Nile virus, 350
Meralgia paresthetica, 402t
Merosin deficiency, 283t–284t, 517f
MERRF (myoclonic epilepsy with ragged-red
fibers), 587
Meryon sign, 186–187
Metabolic myopathies, 18–20, 25f
Metabolism, muscle, 572, 573f
disorders of. See Glycogen storage
diseases
Metachromatic leukodystrophy, 303–304
clinical presentation, 303
diagnosis of, 303
treatment of, 303–304
Metformin, in diabetes mellitus, 533–534,
Methadone, in painful polyneuropathy,
137
Methimazole, in hyperthyroidism, 535
Methotrexate, 149–150, 154t–156t
in dermatomyositis, 565
in myasthenia gravis, 456–457
in polymyositis, 565
side effects of, 149
in vasculitic neuropathy, 328, 330
Metoclopramide
in delayed gastric emptying, 87
in gastroparesis, 112, 113t
Metronidazole, in tetanus, 422
Mexiletine
in myotonic dystrophy, 515–516
in nondystrophic myotonia, 431–432
Micro RNAs (miRNAs), 239
Midazolam, in tetanus, 422
Midodrine hydrochloride, in orthostatic
hypotension, 110–111, 110t
Miller-Fisher syndrome (MFS), 4, 11f,
314–315
Mind, pain and, 127
Mineralcorticoid receptor antagonists
(MRA), 67
Mitochondria, 36
Mitochondrial encephalomyopathy,
polyneuropathy, ophthalmoplegia,
and pseudo-obstruction (MEPOP),
89
Mitochondrial myopathy, 586–591
aerobic exercise in, 163
cardiac complications in, 53t–54t, 58
clinical presentation of, 586–587,
586f–587f
diagnosis of, 587–590, 588f
biochemical, 588
biopsy in, 588, 588f
molecular, 589–590, 589f, 589t
gene therapy in, 591
outcome of, 591
physical examination in, 11f
treatment of, 590–591, 590t
Mitochondrial neurogastrointestinal
encephalomyopathy (MNGIE), 89,
283t–284t, 306t, 587, 591
Miyoshi myopathy, 507, 507f
Monoclonal antibodies, 333
Monoclonal gammopathy, 333
vs. lower motor neuron syndrome, 252
of undetermined significance, chronic
inflammatory demyelinating polyra-
diculoneuropathy with, 333
Monogenic disorders, 226
Mononeuritis multiplex, 332
Mood disorders, 179
Morvan syndrome, 424t, 425
Motor CIDP, 329
Motor nerve conduction velocity test, 15,
16f
INDEX 605
Motor neuron diseases, 247–260. See also
Amyotrophic lateral sclerosis (ALS);
Spinal muscular atrophy.
diagnosis of, 248–255, 249f–250f
dysphagia in, 80
family history in, 248–253
perioperative management in, 208–209
respiratory complications of, 46–47
treatment of, 255–258, 257t
Motor unit action potential, 18, 19f
Mouthpiece ventilator, 43, 43f
MRA. See Mineralcorticoid receptor
antagonists (MRA)
MR neurography, 20, 33f
MTTP, 283t–284t
Multifocal motor neuropathy (MMN), 322
clinical criteria, 322b
Multifocal motor neuropathy with
conduction block, 252
vs. lower motor neuron syndrome, 252
Multiple acyl-CoA dehydrogenase deficiency,
582t, 583–585
Multiplex ligand-dependent probe
amplification (MLPA), 229
Muscarine poisoning, 372t
Muscle and nerve ultrasound, 20–33
Muscle channelopathies, 428–432, 429t
nondystrophic myotonias, 428–429
electrodiagnostic features, 431, 432t
treatment of, 431–432
potassium-aggravated myotonias, 430
Schwartz-Jampel syndrome, 430–431
Muscle contractures from fibrosis, 3–4, 10f
Muscle-eye-brain disease, 493t–494t, 495f
Muscle growth and regeneration, in
Duchenne muscular dystrophy, 504
Muscle histology using different stains, 18, 21f
Muscle weakness, 267
Muscular dystrophy, 492–527. , See also specific
muscular dystrophies
congenital. See Congenital muscular
­dystrophy
dysarthria in, 176
dysphagia in, 80–81
orthopedic surgery in, 186–195
orthopedic treatment in, 209
perioperative management in, 210
respiratory complications of, 41–45, 42f
infection and, 48
maximum expiratory pressure in, 42–43
maximum inspiratory pressure in, 42–43
mechanical in-exsufflator in, 43
monitoring of, 42
pulmonary function testing in, 42, 42f
ventilatory support in, 42
bilevel positive airway pressure for,
43–44
cuirass ventilator for, 46, 46f
home-based, 44–45
negative pressure ventilator for, 46, 46f
NPPV for, 43, 46–48
pneumobelt for, 45f, 46
pressure mode for, 43–44
rocking bed for, 45f, 46
tracheostomy-based, 44f, 45
volume ventilation in, 43–44, 44f
Mushroom poisoning, 372t
Mutations/pathogenic variants in the
genome, 232
Myasthenia gravis, 446–465
acute respiratory failure in, 48
arthrogryposis multiplex congenita, 463
breastfeeding and, 463
diagnosis of, 446–448, 447f–448f
drug effects in, 460b, 464
606 INDEX
Myasthenia gravis (Continued)
dysarthria in, 175
dysautonomia in, 109
dysphagia in, 81
hyperthyroidism with, 535
during labor and delivery, 463
vs. Lambert-Eaton Myasthenic syndrome,
465–466, 466t
with lipoprotein receptor–related protein
4 and agrin antibody, 463
vs. lower motor neuron syndrome, 252
MuSK-Ab-positive, 462
myasthenic crisis in, 460–462, 460b
clinical signs of, 461
respiratory management in, 462
treatment of, 461–462, 461b
neonatal, 463
ocular, 462
perioperative management in, 209–210
physical examination in, 11f, 13f
during pregnancy, 463
prevalence, 446
single-fiber electromyography in, 18, 20f
thymoma and, 463–464
treatment and management, 448–460
acetylcholinesterase inhibitors in,
448–450, 449t, 458t
azathioprine in, 450–455, 451t–455t, 458t
cyclophosphamide in, 451t–455t,
455–456, 458t
cyclosporine A in, 451t–455t, 456, 458t
eculizumab, 455t, 458, 458t
etanercept in, 451t–452t
guidelines for, 458t, 464–465, 465f
intravenous immune globulin in,
453t–455t, 457–458, 458t
methotrexate in, 456–457
mycophenolate mofetil in, 451t–455t,
456, 458t
plasma exchange in, 453t–455t, 457, 458t
rituximab in, 455t, 459
steriods in, 450, 451t–455t, 458t
tacrolimus in, 451t–455t, 456, 458t
thymectomy in, 455t, 458t, 459–460
zilucoplan, 458–459
treatment of
thymectomy in, 209
Myasthenic crisis, 460–462, 460b
clinical signs of, 461
respiratory management in, 462
treatment of, 461–462, 461b
Mycobacterium leprae infection, 355
Mycophenolate mofetil, 150–151, 154t–156t
in chronic inflammatory demyelinating
polyradiculoneuropathy–­monoclonal
gammopathy of undetermined
­significance, 328
in dermatomyositis, 565
in multifocal motor neuropathy, 328
in myasthenia gravis, 451t–455t, 456,
458t
in polymyositis, 565
Myelin, on biopsy specimen, 28f
Myeloma, osteosclerotic, 322–323
Myeloneuropathy, postoperative, bariatric
surgery and, 215
Myelopathy
hepatic, postoperative, 214
HTLV-associated, 356
Myoadenylate deaminase deficiency, 577
Myopathy
alcoholic, 368–369
biopsy in, 17t, 22t, 24f
chloroquine, 370
colchicine, 369–370
congenital. See Congenital myopathy
Myopathy (Continued) N
dysarthria in, 176 Naffziger sign, 384–385
intestinal pseudo-obstruction in, 88 Nasal mask interface, 43f
metabolic, 415b, 437, 572–594, 592f. , , , , with supported tubing, 43, 44f
See also specific metabolic myopathies Nasal pillows, 43
mitochondrial. See Mitochondrial myop- Natalizumab, 152
athy NdSSS. See Neuromuscular disease
nemaline, 26f, 264, 265t–266t, 266 ­swallowing status scale
nucleoside analog–induced, 369 Necrotizing autoimmune myositis, 556
sarcoid, 359–360, 360f immunopathology of, 561–562
statin-associated, 367–370 inhibitors as triggering factors, 562
steroid, 368, 565 outcome, 568
uremic, 540b, 542 Negative pressure ventilator, 45f, 46
Myophosphorylase deficiency, 572, Nemaline myopathy (NM), 26f, 264,
574–576, 574f, 575t, 578f–579f 265t–266t, 266
treatment of, 580–581, 581b Neonate
Myositis myasthenia gravis in, 463
HIV, 345, 347 tetanus in, 421
HTLV, 356–358 Neoplastic plexopathy (NP), 393–394, 394t
inclusion body. See Inclusion body Neostigmine methylsulfate, in myasthenia
myositis gravis, 448–450, 449t, 458t
influenza, 357 Nerve and muscle imaging, 20–33
parasitic, 357–358 duel-energy x-ray absorptiometry scan, 33
Myostatin, inhibition of, 504 magnetic resonance imaging (MRI), 20
Myotilin, 508 muscle and nerve ultrasound, 20–33
Myotilinopathy, 508 Nerve conduction study, 15, 16f–17f, 17t,
Myotonia, 4, 14f, 416f, 428–429. See also 347–348
Myotonic dystrophy. in Charcot-Marie-Tooth disease, 292f
acetazolamide-responsive, 430, in chronic inflammatory demyelinating
432 polyradiculoneuropathy, 329–330
eyelid, 432–433 in critical illness myopathy, 217–219
grip, 429 in critical illness polyneuropathy, 218–219
needle electromyography in, 18 in diabetes mellitus, 531
nondystrophic, 428–429, 429t, 432t in Guillain-Barré syndrome, 313f, 316
treatment of, 431–432 in leprosy, 356
potassium-aggravated, 429t, 430 in snakebite myasthenic syndrome, 481
Myotonia congenita, 428–429, 429t, Neuralgic amyotrophy (NA), 331, 391–396, 402t
432t Neurapraxia, 401
perioperative management in, 211 Neuroborreliosis, Lyme, 352–355
Myotonia fluctuans, 430 diagnosis of, 353–354
Myotonia permanens, 430 treatment of, 354–355
Myotonic dystrophy, 514–516 Neuromuscular blockade
antisense oligonucleotides, 516 prolongation of, 219
cardiac complications of, 53t–54t, 55–56, in tetanus, 422
60f, 514–515 Neuromuscular disease swallowing status
electrocardiography in, 59, 61f scale (NdSSS), 80b
monitoring of, 71t, 72 Neuromuscular disorders (NMD), in muscle
pacemaker implantation for, 68 disease, 162
treatment of, 66f Neuromuscular hyperexcitability disorders,
congenital, 514–515 414–445, 415b, 416f
physical examination in, 7f central, 414–423, 415b
dysarthria in, 176 peripheral, 415b, 423–426
dyspepsia in, 89 in primary muscle disorders, 415b,
dysphagia in, 81 427–436, 427b, 429t
fecal incontinence in, 90–91 Neuromuscular junction disorders, 446–491.
gastric emptying in, 85–88 See also Lambert-Eaton myasthenic
in muscle disease, 162 syndrome; Myasthenia gravis.
natural history of, 187f Congenital. See Congenital myasthenic
orthopedic surgery in, 194–195 syndromes
perioperative management in, 210, 211b, tick-related. See Tick paralysis
514–515 toxin-related. See Botulism; Organophos-
respiratory complications of, 42. See also phate intoxication; Snakebite
Muscular dystrophy; respiratory myasthenic syndrome
complications of. Neuromuscular scoliosis with thoracolumbar
sleep apnea in, 42 curvature, 268f
type 1, 514–515 Neuromyotonia, 423
clinical features of, 514–515, diagnosis of, 424–425, 424t
515f EMG finding of, 423
diagnosis of, 515 treatment of, 426
molecular pathogenesis of, 493t–494t, Neuropathic pain, 118. See also Painful
514–515 polyneuropathy.
treatment of, 515–516 definition of, 119–120
type 2, 493t–494t, 515–516 inflammatory, 119–120
treatment of, 515–516 noninflammatory, 119–120
Myotubularin (MTM1) genes, 58 pathophysiology of, 121–123, 122t–123t
Myotubular myopathy, 26f treatment of, 120

Neuropathy, 292f
ataxia, and retinitis pigmentosa syndrome,
283t–284t
autoimmune. See Autoimmune neuropathy
autonomic. See Autonomic neuropathy
diabetic, 528–535, 529t, 530f, 530b–531b.
See also Diabetes mellitus.
dysarthria in, 176
dysphagia in, 81–82
focal. See Focal neuropathy
gastrointestinal complications of, 91
hereditary. See Hereditary neuropathy
HIV, 345–350, 347t
intestinal pseudo-obstruction in, 88
intraoperative management of, 207
median, 8f, 402t, 403
painful. See Painful polyneuropathy
perioperative management of, 208–211
peroneal, 402t, 407–408
physical examination in, 7f
porphyric, 305–307
toxic. See Toxic neuropathy
ulnar. See Ulnar neuropathy
Neurotmesis, 401
Neurotrophic factors, in Charcot-Ma-
rie-Tooth disease, 295
Neurotrophin-3
in cavovarus foot deformity, 198
in Charcot-Marie-Tooth disease, 295
Neutral lipid storage disease, 582t, 584
Next generation sequencing (NGS) meth-
ods, 36, 229
Niacin, deficiency of, 543
Nodo-paranodopathy classification, 323
Nodopathies, 323–326
Nonaka, 509
Noninvasive positive pressure ventilation
(NPPV), in muscular dystrophy, 43, 44f,
46–48, 83
Noninvasive ventilation (NIV), 83
vs. tracheostomy, 45
Nonmotorized passive exoskeletons, 166–167
Nonsense mutations, 236
Nonsteroidal anti-inflammatory drugs, in
Lyme neuroborreliosis, 354–355
Nonsystemic vasculitic neuropathy (NSVN),
330
Norepinephrine, plasma, 103t
Norepinephrine reuptake inhibitors, in
painful polyneuropathy, 123–127, 126t,
135–136
Normal nerve biopsies, 20, 27f
Nortriptyline, in painful polyneuropathy,
126t, 133, 134t
NPPV. See Noninvasive positive pressure
ventilation (NPPV)
Nucleic acids, structure of, 225–226,
226f
Nucleoside analogs, myopathy with, 369
Nusinersen, 202
Nutrition
in amyotrophic lateral sclerosis, 47
enteral
formulas for, 85
tube placement for, 83–85
in mitochondrial myopathy, 591
Nutritional assessment, 207
O inflammatory, 119–120
Ober test, 186–187
Obsessive-compulsive disorder, with painful
polyneuropathy, 132
Obturator neuropathy, 402t
Occupational therapy, in painful polyneurop-
athy, 139
Ocrelizumab, 152
INDEX 607
Oculomotor neuropathy, in diabetes Painful polyneuropathy, 118–142
mellitus, 531, 533 anxiety disorder with, 132
Oculopharyngeal muscular dystrophy, 516 comorbid conditions with, 118, 132–133
dysphagia in, 81 definition of, 119–120
molecular pathogenesis of, 493t–494t, 516 depression with, 134
physical examination in, 11f evaluation of, 119t, 130–133
polymerase chain reaction in, 26f iatrogenic causes of, 133
treatment of, 516 medical marijuana in, 138–139
Onasemnogene abeparvovec-xioi, 202 nerve anatomy in, 120–121
Onion bulb formation, in Charcot-Ma- pathophysiology of, 121–123, 122t
rie-Tooth disease, 293 calcium channels in, 122–123
OPA1, 589–590, 589f, 589t potassium channels in, 121–122
Opioids sensory and nociceptive afferents in,
in painful polyneuropathy, 124, 127t, 135t, 123–127, 124f–125f
136–137 sodium channels in, 121
withdrawal from, 137 sleep disorders with, 132
Opsonization, 144 treatment of, 123t
Organophosphate intoxication, 482–486 ancillary therapies in, 139
acute cholinergic crisis in, 483, 483t antidepressants in, 123–127, 126t,
clinical manifestations of, 483–484 130, 133–135, 134t–135t
delayed polyneuropathy in, 483–484, 483t evidence-based medicine in, 118,
diagnosis, 484 127–129, 128t–129t
electrophysiologic findings, 484 gabapentinoids in, 130, 133, 135t,
intermediate syndrome in, 483, 483t 136
pathophysiology of, 482–483 lidocaine patch in, 134t–135t, 136
repetitive nerve stimulation test in, 484 narcotics in, 134t
treatment and management, 484–486 norepinephrine reuptake inhibitors in,
acute, 484, 485t 123–127, 126t, 135–136
atropine in, 484–485 off-label drugs in, 129–130
diazepam in, 485–486 previous recommendations for, 130
oximes in, 485 selective serotonin reuptake inhibitors,
Organ transplantation, complications of, 126t
213–215 selective serotonin reuptake inhibitors
Orthopedic deformities, 268–270 in, 123–127, 135–136, 135t
Orthoses, 164–167 side effects of, 133
lower extremity, 167–168, 168f tramadol in, 135t
robotics, 168 Painless proximal diabetic neuropathy,
pediatric, 170–171 399
spinal, 164–165, 165f, 165t Palliative care, 181–182
upper extremity, 165–168, 166f Pamrevlumab, in Duchenne muscular dystro-
Orthostatic intolerance, 99t phy, 504
Orthostatic stress testing, 99, 100f Pancuronium, in tetanus, 422
Osteoporosis Paradoxical breathing, 261, 263f
fracture with, 178, 187–191 Paramyotonia congenita, 429, 429t, 432t
monitoring, 187, 188f Paraneoplastic autonomic neuropathy,
in sarcoidosis, 360 106–107
Osteosclerotic myeloma, 322–323 Paraneoplastic Lambert-Eaton myasthenic
Overlap myositis and antisynthetase syn- syndrome, 466–467, 470
dromes (OM-AS), 556 Paraneoplastic sensory neuropathies,
Oxaliplatin, neuropathy with, 364t–365t 331
Oximes, in organophosphate intoxication, 485 Paraneoplastic syndromes, 332
Parasitic myositis, 357–358
P Parasympathetic nervous system, 97–98, 98f.
PABPN1, 516 See also Autonomic nervous system.
Pacemaker, 68 Paresthesias, 3
Paclitaxel, neuropathy with, 107, 364t–365t Parsonage-Turner syndrome, 330–331,
Pain, 177–179 392–393
acute vs. chronic, 120 Patisiran, 105, 238
assessment of, 177 Pediatric wheelchair, 171f
back, 178 Peek-a-boo sign, 196, 197f
cramping-related, 178 Penicillamine, in peripheral neuropathies,
definition of, 120 423–424
fracture-related, 178 Penicillin, in tetanus, 422
management of, 178–179 Pentazocine myopathy, 3–4, 10f
neck, 178 PEO1, 589, 589f, 589t
neuropathic, 118. See also Painful polyneu- Percussion-induced rapid muscle
ropathy. ­contractions, 427
definition of, 119–120 Percutaneous endoscopic gastrostomy (PEG)
tube, 83
noninflammatory, 119–120 contraindications for placement, 84
pathophysiology of, 121–123, 122t–123t survival after, 84
treatment of, 120 Perhexiline, neuropathy with,
prevention of, 178 364t–365t
rating scales for, 127 Periacetabular osteotomy, 199
shoulder, 178 Perindopril, in Duchenne muscular ­dystrophy–
spasticity-related, 178 related cardiomyopathy, 65t, 66
608 INDEX
Periodic paralysis, 432–436
in Andersen-Tawil syndrome, 433–434, 436
exercise tests for, 431, 431b
hyperkalemic, 429t, 432–433, 432t, 433b,
435t
hypokalemic, 429t, 432t, 433, 434b, 435t
provocative tests in, 435
secondary, 434–435
thyrotoxic, 434, 436, 529t
treatment of, 435, 435t
Peripheral nerve, 120–121
Peripheral nerve hyperexcitability disorders
acquired, 423–424
classification, 423, 423b
clinical entities, 423
cramp-fasciculation syndrome, 424t,
425–426
Isaacs syndrome, 424–425, 424t
Morvan syndrome, 424t, 425
treatment and management, 426
Peripheral nerve hyperexcitablity (PNH)
syndromes, 332, 423–426
Peripheral neuropathies, perioperative man-
agement of, 209
Periungual capillary dilatation, 5f
Peroneal muscular atrophy. See Charcot-Ma-
rie-Tooth disease
Peroneal neuropathy, 402t, 407–408
Peroxisomal disorders, 304–305
Pfiesteria, 372t
PGC1α, 299–300
Pharyngeal-brachial variant of GBS, 315
Phenytoin, in myotonic dystrophy, 515–516
Phosphodiesterase type 5 inhibitors, in erec-
tile dysfunction, 112, 112t
Phosphofructokinase deficiency, 575t, 576,
580f
Phosphoglycerate mutase deficiency, 575t,
577
Phosphorylase kinase deficiency, 575t,
576–577
Phrenic nerve injury, 214
Physical examination. See Clinical evaluation;
physical examination in
Physical therapy. See also Rehabilitation.
in cervical radiculopathy, 386
in painful polyneuropathy, 139
Physiotherapy, in painful polyneuropathy,
139
Phytanic acid, 304–305
Piloerection response, 97
Plantar fascia release, in cavovarus deformity,
198, 199f
Plantar reflex, in Friedreich ataxia, 201
Plasma exchange, 148–149, 154t–156t
in chronic inflammatory demyelinating
polyradiculoneuropathy, 312–313
in cryoglobulinemia, 312–313
in Guillain-Barré syndrome, 312–313, 328t
in myasthenia gravis, 453t–455t, 457, 458t
in myasthenic crisis, 461, 465
Plasmapheresis, in stiff-person syndrome,
419–421, 420t
Plexopathy, 391–400. See also Brachial plexop-
athy; Lumbosacral plexopathy.
diagnosis of, 391–392
evaluation, 391–392
imaging in, 391–392
PMP22, 280t–282t, 287f, 292f, 294, 393
Pneumobelt, 45f, 46
POEMS syndrome, 322–323, 333
POLG1, 589, 589f, 589t
POLG2, 589f, 589t
Polyethylene glycol, 113–114, 114t
Polyglucosans, 573–574
Polymerase chain reaction, 36
Polymerase chain reaction (PCR)-based
assay, 229
Polymyositis, 555–556
autoantibodies, 562
in childhood, 555
definition, 555
diagnosis of, 557–562, 558f
disease associations of, 555
dysphagia in, 81
immunopathy of, 559–561, 561f
inhibitors as triggering factors, 562
misdiagnosis of, 558
outcome of, 568
parasite-related, 555–556
step-by-step approach, 567
symptoms, 555
treatment of, 563–568
Polyneuropathy, 539–540, 541f
amyloidic, 283t–284t, 297–298
in organophosphate intoxication, 483–484,
483t
painful, Painful polyneuropathy
Polyneuropathy, ophthalmoplegia, leukoen-
cephalopathy, and intestinal pseudo-ob-
struction (POLIP), 89
Polyradiculopathy, vs. lower motor neuron
syndrome, 252
Pompe disease, 237, 572–573, 574f, 575t,
576f, 578f
cardiac complications in, 53t–54t, 57
treatment of, 579–580
Porphyric neuropathy, 105, 305–307
diagnosis of, 305–306
drug-related complications in, 305
treatment of, 306–307
Posterior longitudinal ligament (PLL), 380,
381f
Posterior spinal fusion (PSF), 202
Posterior tibial tendon transfer, to dorsal
base of second metatarsal, 190
Postpolio syndrome
aerobic exercise in, 163
vs. lower motor neuron syndrome, 252
strengthening exercise in, 162
ventilatory support in, 46
Posttraumatic stress disorder, with painful
polyneuropathy, 132
Postural orthostatic tachycardia syndrome
(POTS), 109
Postural tachycardia, 99t
tilt-table testing for, 100
Potassium, abnormal levels of. See Periodic
paralysis
Potassium-aggravated myotonia, 429t, 430
Potassium channel, in pain, 121–122
Potassium loading test, in hyperkalemic
periodic paralysis, 435
POTS. See Postural orthostatic tachycardia
syndrome (POTS)
Prednisolone, in myasthenic crisis, 461–462
Prednisone
in Duchenne muscular dystrophy,
501–502, 504
in stiff-person syndrome, 419–421, 420t
Pregabalin
in fibromyalgia, 133
in painful polyneuropathy, 126t, 134t, 136
weight gain with, 133
Pregnancy, myasthenia gravis during, 463
Pre-mRNA, 232–233
Prenatal testing for pregnancy planning, 232
Presymptomatic genetic testing, 231
Primary amyloidosis, 105
Primary cardiomyopathy, 58
Primary systemic amyloidosis, 333
diagnosis of, 333
treatment of, 333
Procainamide, in fecal incontinence, 91
Progressive encephalomyelitis with rigidity,
414–415
Prolonged neuromuscular blockade, 219
Pronator teres syndrome, 397–398, 402t
Prophylthiouracyl, in hyperthyroidism, 535
Propofol, in channelopathy, 217
Protein synthesis, 232–233
Prucalopride, 90
Prussian blue, in thallium poisoning, 362
Pseudo-addiction, 138
Pseudobulbar affect, in amyotrophic lateral
sclerosis, 256
Pseudoephedrine, in orthostatic hypoten-
sion, 110t, 111
Pseudohypertrophic myopathy, 358
Pseudohypoparathyroidism, 537
Pseudomyotonia, 424–425
Psilocybin poisoning, 372t
Psychosocial issues
in congenital myopathy, 272
in spinal muscular atrophy, 272
Ptosis
in Horner syndrome, 12f
in myasthenia gravis, 11f
Pulmonary function testing
in amyotrophic lateral sclerosis, 46–47
in bilateral diaphragm paralysis, 41
in Duchenne muscular dystrophy, 190–191
Punch skin biopsy, 20, 29f
Pure lower motor neuron disease, 332
Pure sensory CIDP/chronic immune sensory
polyradiculopathy (CISP), 321–322
PYGM, 574, 576
Pyridostigmine bromide
in constipation, 114
in myasthenia gravis, 448–450, 449t, 458t
in myasthenic crisis, 461–462
in orthostatic hypotension, 110t, 111
Pyridoxine
deficiency of, 543–544
neuropathy with, 106, 372t
Q
Quality Assurance committee of the Amer-
ican Association of Electrodiagnostic
Medicine, 385–386
Quality of life, 179–180
measurement of, 180
professional care team impact on, 180
Quantitative sensory testing, 10
Quantitative sudomotor axon reflex testing,
102, 103t
Quantum 5 segmental method, 33, 37f
Quinidine, in congenital myasthenic syn-
dromes, 479
R
RAB7, 280t–282t
Radial neuropathy, 402t, 407
Radiation therapy
brachial plexopathy with, 393–394, 394t
lumbosacral plexopathy with, 399
in thymoma, 464
Radiculitis, in Lyme neuroborreliosis, 353
Radiculopathy, 380–391
cervical, 384–387
clinical features of, 384–385, 384t
diagnosis of, 385–386, 385b
evaluation, 385–386, 385b
management, 386–387, 386b
treatment of, 386–387, 386b

Radiculopathy (Continued)
electrodiagnosis of, 382–383
lumbosacral, 387–391
clinical features of, 387–389, 388t
diagnosis of, 389–390
evaluation, 389–390
management, 390–391
treatment of, 390–391
pathoanatomy of, 380–381, 381f
pathology of, 381–382, 383f
pathophysiology of, 382
Radiography
in cavovarus foot deformity, 197–198, 198f
in cervical radiculopathy, 386
in cervical spondylotic myelopathy, 383f
in chronic inflammatory demyelinating
polyradiculoneuropathy, 327–329
Ragged-red fibers, 588, 588f
Ramipril, in glycogen storage disease type
V, 581
Ramps, 172–173
Rapamycin, 151, 154t–156t
Reflex(es)
blink, 15
in cervical radiculopathy, 385
F-, 15
H-, 15
plantar, 201
Refsum disease, 200, 283t–284t,
304–305
Rehabilitation, 160–185
assistive devices in, 171–172, 172t
canes in, 168–169, 169f
caregiver role in, 180–181
for children, 170–171
in cognitive dysfunction, 179
communication devices in, 172
crutches in, 168–169, 169f
in dysarthria, 174–176, 175t
in dysphagia, 176–177
environmental control devices in, 172
environmental modifications in,
172–173
exercise/training in, 161–164, 161t
aerobic, 161t, 163
balance, 161t, 163–164
flexibility, 161, 161t, 164
prescription for, 164
strength, 161t, 162–164
in foot deformities, 174
functional mobility in, 171–172
in joint contractures, 173–174
in mood disorders, 179
in neuromuscular scoliosis, 173
orthoses in, 164–167
lower extremity, 167–168, 168f
spinal, 164–165, 165f, 165t
upper extremity, 165–168, 166f
in pain, 177–179
palliative care in, 181–182
quality of life in, 179–180
in respiratory failure, 174
school modifications in, 173
walkers in, 168–169, 169f
wheelchairs in, 169
workplace modifications in, 173
Repetitive nerve stimulation (RNS) test, 15,
17t, 19f
in botulism, 473, 473f
in congenital myasthenic syndromes,
476–478, 478f
in Lambert-Eaton myasthenic syndrome,
467, 467f
in myasthenia gravis, 447, 447f–448f
in organophosphate intoxication, 484
Respiratory failure
in bilateral diaphragm paralysis, 40–47
chronic, 40–51. See also Amyotrophic
lateral sclerosis (ALS); respiratory
complications of; Muscular dystrophy;
respiratory complications of.
acute exacerbation of, 48–49
in Guillain-Barré syndrome, 47–48, 312
in myasthenia gravis, 48
in post-polio syndrome, 46
rehabilitation for, 174
in spinal cord injury, 45
in spinal muscular atrophy, 46, 268–269
in tetanus, 421
Respiratory muscles, strength training of,
162–163
Respiratory support during induction
maintenance and recovery, 207
Respiratory therapy, 69
Restless legs syndrome
sleep disorder with, 132–133
treatment of, 133
Rhabdomyolysis, 210, 577, 591–592, 592b
Rheumatoid arthritis, neuropathy in, 332
Riboflavin, in multiple acyl-CoA dehydroge-
nase deficiency, 585
Rifampicin, in leprosy, 356
Riluzole, in amyotrophic lateral sclerosis,
255
Rimeporide, in Duchenne muscular
dystrophy, 504
Rippling muscle disease, 427–428, 427b
diagnosis of, 427–428
treatment of, 428
Risdiplam, 236
Rituximab, 151–152, 154t–156t
in chronic inflammatory demyelinating
polyradiculoneuropathy–monoclonal
gammopathy of undetermined signif-
icance, 324
in cryoglobulinemia, 330
in dermatomyositis, 566
in myasthenia gravis, 455t, 459
in polymyositis, 566
side effects of, 151
in stiff-person syndrome, 419–421, 420t
RNA-based therapies, 233–239
RNA interference (RNAi), 237–239
Rocking bed, 45f, 46
Roussy-Lévy syndrome, 200
RR interval, in orthostatic testing, 100, 100f
Ryanodine receptor 1 (RYR1), 58
S with painful polyneuropathy, 132
Saliva excess, in amyotrophic lateral sclerosis,
256
SANDO (sensory ataxia, neuropathy, dysar-
thria and ophthalmoplegia), 587
Sarcoglycanopathy, 507–508
Sarcoidosis, 332–333, 359–360, 360f
SARS-COV-2 infection, 352
diagnosis and evaluation, 352
treatment and management, 352
Saturday night radial nerve palsy, 395, 407
Scapular winging
in brachial plexopathy, 8f
in congenital myotonic dystrophy, 7f
in fascioscapulohumeral muscular dystro-
phy, 512–513, 512f
Scapulocostal fusion, in fascioscapulohumer-
al muscular dystrophy, 193–194, 194f
School modifications, 173
Schwann cells, 120–121
Schwartz-Jampel syndrome, 430–431
Sciatica. See Lumbosacral radiculopathy
INDEX 609
Scleroderma, intestinal pseudo-obstruction
in, 88
SCN4A, 429, 432–433, 436
Scoliosis
in Charcot-Marie-Tooth disease, 199–200
in Duchenne muscular dystrophy,
190–191, 191f–192f, 505
in Friedreich ataxia, 201
rehabilitation in, 173
in spinal muscular atrophy, 202, 268–269
Scombroid poisoning, 372t
Sea snake bite, 372t
Second-wind phenomenon, 574–576
Selective serotonin reuptake inhibitors
in painful polyneuropathy, 123–127, 126t,
133, 135–136, 135t
side effects of, 133
Senna, 114, 114t
Sensory CIDP, 329
Sensory neuropathy, anecdotal cases of, 332
Serum neurofilament light chains, 330
Sheffield support snood, 164–165, 165f
Short-chain acyl-CoA dehydrogenase defi-
ciency, 582t
Shunt-related entrapment neuropathies, 541
Sialorrhea, in amyotrophic lateral sclerosis,
47, 248, 257t
SIBO. See Small intestinal bacterial over-
growth
Single-fiber electromyography, 18, 20f
Single-guide RNA (sgRNA), 239–240
Single-nucleotide polymorphisms (SNPs),
228
Sinus tachycardia, in Duchenne muscular
dystrophy, 59, 59f
siRNA-based therapeutic approaches,
237–238
Sjögren syndrome, 332
autonomic neuropathy in, 107
Skin
biopsy of
in familial amyloidic polyneuropathy,
298
in HIV-associated neuropathy, 355
in dermatomyositis, 554, 555f
sympathetic response of, 101–102, 101f
Sleep apnea
in myotonic dystrophy, 42, 514–516
in painful polyneuropathy, 133
with painful polyneuropathy, 132
Sleep disorder(s)
in amyotrophic lateral sclerosis, 248, 257,
257t
Sleep-disordered breathing
in congenital myopathy, 271–272
in spinal muscular atrophy, 271–272
Sleep hygiene, in orthostatic hypotension,
109
Slings, 166
Small cell lung cancer (SCLC), 331–332
Small fiber neuropathy (SFNs), 333–334
Small Interfering RNAs (SIRNAS), 237–238
Small intestinal bacterial overgrowth (SIBO),
89
Small intestine, pseudo-obstruction of, 88–90
Small molecules, 236–237
SMN1, 261–263
SMN2, 261–263
Snakebite myasthenic syndrome, 480–482
categories, 480
causes of, 480
characteristics, 480
diagnosis of, 481
electrophysiological findings, 481
610 INDEX
Snakebite myasthenic syndrome (Continued)
pathophysiology of, 480–481, 481b
toxin in, 481b
treatment and management, 481–482
acetylcholinesterase inhibitors in, 482
antivenoms in, 481–482
supportive, 482
Sniff test, 40–41
SNP microarray analysis, 228
SOD1, 251
Sodium channel, in pain, 121
Sodium chloride, in orthostatic hypotension,
109–110
Sodium valproate, in stiff-person syndrome,
418–419, 420t
Southern blot, 33
Southern blotting, 228
Spasms
in stiff-person syndrome, 414–415
in tetanus, 421
Spastic gait syndrome, 283t–284t
Spasticity, in amyotrophic lateral sclerosis,
178, 252, 256, 257t
Speckle-tracking echocardiography (STE),
62
Spinal canal, diameter of, 381
Spinal cord injury, respiratory complications
of, 45
Spinal deformity
in Charcot-Marie-Tooth disease, 199–200
in Duchenne muscular dystrophy,
190–191, 191f–192f, 506
in Friedreich ataxia, 201
in spinal muscular atrophy, 202, 269
in stiff-person syndrome, 415, 417f
Spinal muscular atrophy, 235, 261–277
aspiration in, 271
coxa valga deformity in, 202, 202f
developmental delay in, 267
diagnosis of, 261–267, 262t–263t
facial deformities in, 270
gastroenterologic complications of,
267–268
gene therapy in, 272–275
infantile, 202, 263–264, 273
infection in, 271
juvenile, 7f, 202, 202f, 261
orthopedic surgery in, 202, 202f
orthopedic treatment in, 268–270
pathogenesis of, 3f
perioperative management in, 209
psychosocial issues in, 272
pulmonary management in, 270–271, 270f
respiratory complications of, 46
scoliosis in, 202
sleep-disordered breathing in, 271–272
treatment of, 267–272
type 1, 261, 264f
perioperative management in, 208–211
type 2, 261
perioperative management in, 208–211
type 3, 261
perioperative management in, 208–211
weak cough in, 270–271
Spinal nerves, 380, 381f
Spinal orthoses, 164–165, 165f, 165t
Spinal roots, 381, 381f
Spinocerebellar ataxia, 283t–284t
with axonal neuropathy, 280t–282t, 296
Spirometry, in bilateral diaphragm paralysis,
41
Spironolactone, in Duchenne muscular dys-
trophy-related cardiomyopathy, 65t
Spliceosomes, 232–233
Splints, in carpal tunnel syndrome, 404
SPTLC1, 280t–282t
Spurling maneuver, in cervical radiculopathy, Sympathetic nervous system, 97, 98f. See also
384–385 Autonomic nervous system.
Squatting, in orthostatic hypotension, 109 Sympathetic skin response, 101–102, 101f
Staircase modifications, 173 Systemic lupus erythematosus, nonvasculitic
Statin-associated myopathy, 367–370 neuropathy in, 332
Stavudine, neuropathy with, 366–367
STE. See Speckle-tracking echocardiography T
(STE) Tachycardia, postural, 99t
Steatorrhea, postoperative, 214–215 tilt-table testing for, 100
Steroid myopathy, 368, 565 Tacrolimus, 151, 154t–156t
Steroids, in myasthenia gravis, 450, in dermatomyositis, 566
451t–455t, 458t in myasthenia gravis, 451t–455t, 456,
Stiff-limb syndrome, 414 458t
Stiffness, 2, 416f in polymyositis, 566
Stiff-person syndrome, 414–421 Tafamidis, 105
autoantibodies in, 416–418, 418f, 419t Tafamidis meglumine, 237
clinical presentation, 414–415 Tangier disease, 283t–284t
diagnosis of, 415–418, 417b, 418f Tapentadol, in painful polyneuropathy,
treatment of, 418–421, 420t 137
Stingers, 395 Tardy ulnar palsy, 404–405
Stop codon-read-through mutation suppres- Target transthyretin (TTR), 105
sion approach in, Duchenne muscular Tarui disease, 575t, 576, 579f
dystrophy, 502 Tay-Sachs disease, vs. amyotrophic lateral
Strachan syndrome, 547–548 sclerosis, 250
Straight leg raising test, in lumbosacral radic- Telethonin, 508
ulopathy, 389 Tetanus, 421–423
Strength exercise/training, 161t, 162–164 clinical presentation, 421
Stroke, 101–102 diagnosis of, 421–422
in Emery-Dreifuss muscular dystrophy, local, 421
67–68 neonatal, 421
Sucrose, in glycogen storage disease type V, treatment of, 422–423
581 Tetanus neonatorum, 421
Sudomotor dysfunction, in diabetes mellitus, Tetrahydrocannabinol (THC), 138
104 Tetrodotoxin, 372t
Suicide, drug-associated, 134 Thalidomide, neuropathy with, 356
Sulfonylureas, in diabetes mellitus, 533–534, Thallium poisoning, 362
534f autonomic neuropathy with, 107
Surgery Thermoregulatory sweat testing, 102, 102f,
abdominal, 214 103t
bariatric, 215 Thiamine
brachial plexopathy after, 391 deficiency of, 543
cardiothoracic, 214 supplementation with, bariatric surgery
in channelopathy, 211 and, 214–215
complications of, 213–215 Third-nerve palsy, diabetic, 11f
in Friederich ataxia, 209 Thirty:fifteen ratio, 100, 100f
malignant hyperthermia syndrome with, Thomas test, 186–187
211–213, 212f, 212b Thomsen disease, 428–429, 429t
management after, 206–224 Thoracic outlet syndrome, 395–396, 397t
in motor neuron disease, 206 Thoracic radiculopathy, in diabetes mellitus,
in muscular dystrophy, 210 531
in myasthenia gravis, 209–210 Thymectomy, 209, 455t, 458t, 459–460
in myotonic dystrophy, 210, 211b Thymoma, 463–464
orthopedic Tiagabine, in stiff-person syndrome,
in Becker muscular dystrophy, 191 418–419, 420t
in Charcot-Marie-Tooth disease, Tick paralysis, 371, 372t
195–200, 195f, 200f Tilt-table testing, 100
in congenital myopathy, 268–270 Tinel sign, 401
in Duchenne muscular dystrophy, 186– Titin, 508
187. See also Duchenne muscular Tolerance, drug, 137
dystrophy; orthopedic treatment in. Tongue
in Emery-Dreifuss muscular dystrophy, in amyotrophic lateral sclerosis, 13f
191–193 in myasthenia gravis, 4, 13f
in fascioscapulohumeral muscular dys- Toxic myopathy
trophy, 193–194 alcoholic, 368–369
in limb-girdle muscular dystrophy, 193 chloroquine, 370
in myotonic dystrophy, 194–195 colchicine, 369–370
in spinal muscular atrophy, 202, 268–270 nucleoside analog–induced, 369
in peripheral neuropathy, 209 statin-associated, 367–370
in spinal muscular atrophy, 209 steroid, 368, 565
Survival motoneuron (SMN)-1 protein, 46 Toxic neuropathy, 361–363
Swallowing alcoholic, 363
disorders of. See Dysphagia arsenic, 361
phases of, 79 drug-related, 363–367, 364t–365t
Sweating, in diabetes mellitus, 104 hexacarbon, 362–363
Sweat testing, thermoregulatory, 102, 102f, lead, 362
103t thallium, 362

Toxins
autonomic neuropathy with, 107
biologic, 371–373, 372t
Clostridium botulism. See Botulism
marine, 371–373, 372t
myopathy with. See Toxic myopathy
neuropathy with. See Toxic neuropathy
organophosphate. See Organophosphate
intoxication
snake. See Snakebite myasthenic syndrome
Toxoplasmosis, 358
Tracheostomy
in amyotrophic lateral sclerosis, 47, 207
in muscular dystrophy, 44f, 45–47
Traditional opioid analgesics, 125–127
Training. See Exercise/training
Transplantation, 213–215
Transthyretin, 297
Trichinosis 357, 358f
Trifunctional protein deficiency, 357, 582t
Triheptanoin, in lipid metabolism disorders,
585
Trinucleotide repeats, 227
Triosephosphate isomerase deficiency, 575t,
577
Triple arthrodesis, in Charcot-Marie-Tooth
disease, 199, 200f
Trivalent equine botulism antitoxin, 474
Tropical spastic paraparesis, HTLV-­
associated, 356
Trypanosoma cruzi infection (Chagas disease),
107
TTN, 508
TTR, 283t–284t
Tumor necrosis factor, 144
Tumor necrosis factor-α antagonists,
neuropathy with, 366
Typical CIDP, 321
U Vinca alkaloids, autonomic neuropathy with,
Ullrich syndrome, 493t–494t, 517–518
Ulnar neuropathy, 395, 400–401, 402t, 404–407
after coronary artery bypass graft surgery,
395
clinical features of, 402t, 405
in diabetes mellitus, 530–531, 533
diagnosis of, 405–406, 406b
pathoanatomy of, 404–405
physical examination in, 8f, 405
treatment of, 406–407, 407b
Ulnar neuropathy at the elbow (UNE), 402t,
404–407, 406b
Ultrasonography
in carpal tunnel syndrome, 403
in plexopathy, 392
in ulnar neuropathy, 397–398
Uremia, 539–542
autonomic neuropathy with, 105
myopathy with, 540b, 542
neuropathy with, 539–542, 540t
polyneuropathy with, 539–540, 541f
vascular steal syndrome with, 541
Urinary retention, treatment of, 111–112
bethanechol in, 112
Urinary urgency, in amyotrophic lateral
sclerosis, 256, 257t
Utrophin up-regulation, in Duchenne
muscular dystrophy, 504
V Vitamin D
Vagus nerve injury, operative, 214
Valproic acid, in mitochondrial myopathy,
591
Valsalva maneuver, 101, 101f
Vamorolone, 147–148
Variegate porphyria, 305, 306t
Vasa nervorum, 120–121
Vascular steal syndrome, 541
Vasculitis, 330–334
Vecuronium, in tetanus, 422
Velcro seal, 164–165
Venlafaxine, in painful polyneuropathy, 126t,
134t, 135
Ventilator
cuirass, 46, 46f
negative pressure (iron lung), 46
Very-long chain acyl-CoA dehydrogenase
deficiency, 582t, 583, 585
VGKC, 423–424
Vibration detection threshold, 10, 15f
Viets sign, in cervical radiculopathy,
384–385
Vigabatrin, in stiff-person syndrome,
418–419, 420t
Vinblastine, neuropathy with, 364t–365t
107
Vincristine, neuropathy with, 364t–365t,
365
Viper bite, 372t
Virus-based gene therapy, 239
Visceral myopathy, 88
Vital signs, orthostatic, 99–100
Vitamin A, deficiency of, 542–543
postoperative, 214
Vitamin B, deficiency of, postoperative,
214
Vitamin B6
deficiency of, 543–544
intoxication with, autonomic neuropathy
with, 106
neuropathy with, 347–348
INDEX 611
Vitamin B12
deficiency of, 544–545
autonomic neuropathy with, 105–106
diagnosis of, 545, 545b, 546t
etiology of, 544, 545b
motor myelopathy with, 253
metabolism of, 544, 544f, 545t
supplementation with, 545–546
bariatric surgery and, 215
in fascioscapulohumeral muscular
dystrophy, 514
Vitamin B1, deficiency of, 543
Vitamin B3, deficiency of, 543
deficiency of, 537, 546
postoperative, 214
supplementation with, 546–547
bariatric surgery and, 215
Vitamin E
deficiency of, 547
ataxia with, 283t–284t, 298
postoperative, 214
supplementation with, 547
W
Waldenstrom macroglobulinemia, 333
Walid-Robinson Pain Index, 127
Walkers, 168–169, 169f
Walker-Warburg syndrome, molecular patho-
genesis of, 493t–494t, 495f
Wartenburg syndrome, 283t–284t
Water intake, in orthostatic hypotension,
109–110
Weakness, 2, 4b, 14t
distribution of, 2
rehabilitation for, 161–164, 161t. See also
Exercise/training.
Weight loss, dysphagia and, 81
Welander muscular dystrophy, 7f, 511f
West Nile virus infection, 350–352
Wheelchairs, 169
Whole exome sequencing (WES), 229
Whole genome sequencing (WGS), 229, 231
Workplace modifications, 173
Wrist-hand orthoses, 166, 166f
X
Xerostomia, 268
XL-R mutations, 226
Z
Zalcitabine, neuropathy with, 366–367
Zidovudine, myopathy with, 369
Zilucoplan, 152–153
ZNF9, 515