Myotonic Muscle Disorders and Periodic Paralysis Syndromes

SECTION VI • Clinical–Electrophysiologic Correlations
PART V • Disorders of Neuromuscular Junction and Muscle
Myotonic Muscle Disorders and

Periodic Paralysis Syndromes 36
The myotonic muscle disorders and periodic paralysis syn- myotonia congenita and paramyotonia congenita, where
dromes compose a group of disorders characterized by weakness is generally not a feature. Myotonia also occurs
muscle stiffness, pain, and sometimes weakness, which may in several of the periodic paralysis syndromes, both inher-
be intermittent or constant. Evaluation of these disorders ited and acquired, as well as on the EMG examination
in the electromyography (EMG) laboratory is particularly in some metabolic, inflammatory, congenital, and toxic
gratifying, as the EMG accompaniment of myotonia is myopathies, although clinical myotonia is generally not
easily recognized by the experienced electromyographer. apparent. Myotonia can be unmasked or precipitated by
Clinically, myotonia is characterized by delayed muscle various drugs. Very rarely, myotonic discharges are noted
contraction after activation. Myotonia can also be demon- on EMG examination in disorders of nerve associated with
strated after percussion of the muscle. On EMG, myotonic severe denervation. Although a single, brief run of myotonia
discharges produce a distinctive revving engine sound. This may be seen in denervating disorders, it is never the pre-
results from the spontaneous firing of muscle fibers that dominant waveform. Neuromyotonia, a rare phenomenon
wax and wane in frequency and amplitude, producing this associated with peripheral nerve as opposed to muscle dis-
unmistakable sound (Figure 36–1). The myotonic potential orders, may result in a delay in muscle relaxation. However,
may take the form of either a positive wave or a brief spike this can be distinguished from myotonia in the EMG
potential, thus identifying the source generator as a muscle laboratory by the spontaneous firing of motor unit action
fiber. Myotonia can be induced by mechanical stimulation, potentials (MUAPs) as opposed to muscle fiber action
such as percussion of the muscle or movement of the EMG potentials.
needle, or may follow voluntary muscle contraction. Clini- Genetic linkage and mutational analyses have identified
cally, myotonia is noted most frequently in the myotonic the molecular basis for several of the myotonic muscle
muscle disorders and in some of the periodic paralysis disorders and periodic paralysis syndromes, resulting in the
syndromes (Box 36–1). Patients describe an inability to classification of these disorders based on a specific ion
relax their muscles after contraction, such as during hand channel or protein kinase defect. Classification of these
grip. In addition, myotonia may be experienced by the disorders now can be accomplished based on clinical, elec-
patient as muscle stiffness. trophysiologic, and molecular findings (Table 36–1). Once
Traditionally, the myotonic muscle disorders have been myotonia is identified on clinical or needle EMG examina-
classified into those with dystrophic changes on muscle tion, the electrophysiologic evaluation is directed toward
biopsy, such as the myotonic dystrophies, resulting in weak- answering several key questions to arrive at the correct
ness, and those without dystrophic changes, such as diagnosis. To answer these questions, a variety of tests can
be performed in the EMG laboratory to distinguish among
the dystrophic and nondystrophic myotonic muscle disor-
ders, the periodic paralysis syndromes, and other disorders
50 µV of muscle with accompanying EMG myotonia. In addition
200 ms to routine nerve conduction studies and needle EMG,
muscle cooling, exercise testing, and repetitive nerve stimu-
lation often are very helpful in differentiating among these
disorders (Box 36–2).
FIGURE 36–1 Myotonic discharge. A myotonic discharge is the
spontaneous discharge of a muscle fiber that waxes and wanes in
both amplitude and frequency. An individual myotonic potential may MUSCLE COOLING
have either a positive wave or a brief spike morphology (identifying
the source generator as a muscle fiber). Myotonic discharges are In some of the myotonic disorders, muscle cooling can be
characteristically seen in myotonic dystrophy, myotonia congenita, used to enhance myotonic discharges or bring out other
paramyotonia congenital, and in some patients with hyperkalemic
periodic paralysis. They also may occur in some myopathies, e.g., acid
characteristic abnormalities (see sections on Myotonia
maltase deficiency, polymyositis, myotubular myopathy, hyperkalemic Congenita and Paramyotonia Congenita). Muscle cooling is
periodic paralysis. best accomplished by wrapping the limb in a plastic bag
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564 SECTION VI Clinical–Electrophysiologic Correlations
Box 36–1. Classification of Myotonic and Periodic Paralysis Disorders

I. Inherited myotonic muscle/periodic paralysis disorders B. Secondary hypokalemic periodic paralysis (not
A. Dystrophic myotonic muscle disorders associated with myotonia) may be seen in association
1. Myotonic dystrophy, types 1 and 2 with:
B. Nondystrophic myotonic muscle disorders/periodic 1. Hyperthyroidism, especially in Asian adults
paralysis syndromes 2. Primary hyperaldosteronism
1. Chloride channel disorders 3. Diuretics
a. Autosomal dominant myotonia congenita 4. Inadequate potassium intake
(Thomsen) 5. Chronic licorice ingestion
b. Autosomal recessive myotonia congenita 6. Excessive potassium loss through sweat
(Becker) 7. Gastrointestinal or renal potassium wasting
2. Sodium channel disorders 8. Steroid use
a. Paramyotonia congenita (Eulenburg) III. Muscle disorders associated with electromyographic
b. Hyperkalemic periodic paralysis (±myotonia) myotonia
c. Sodium channel myotonia congenita A. Metabolic: acid maltase deficiency
d. Hypokalemic periodic paralysis type 2 (rare B. Inflammatory: polymyositis
form) C. Congenital: myotubular myopathy
C. Andersen–Tawil syndrome (no myotonia) D. Associated with systemic disorders: malignant
D. Hypokalemic periodic paralysis, type 1 (calcium channel, hyperpyrexia
no myotonia) E. Drug-induced hypothyroidism
E. Schwartz–Jampel syndrome (note: there is evidence that IV. Drugs that unmask or precipitate myotonia either clinically
the abnormal discharges on EMG are more likely or on electromyographic examination
neuromyotonic and not myotonic) A. Clofibrate
II. Acquired periodic paralysis disorders B. Propranolol
A. Secondary hyperkalemic periodic paralysis (may be C. Fenoterol
associated with myotonia) may be seen in association D. Terbutaline
with the following: E. Colchicine
1. Renal failure F. Penicillamine
2. Adrenal failure G. Cyclosporin
3. Hypoaldosteronism H. Hydroxymethylglutaryl coenzyme A (HMG-CoA)
4. Metabolic acidosis reductase inhibitors (lipid-lowering agents)
and submerging it in ice water for 10 to 20 minutes. After afterward, a CMAP is recorded. If a decrement in ampli-
the skin temperature is brought down to 20°C, needle tude is seen, then a CMAP is recorded every 10 seconds
EMG of the extremity is performed, with the electromyo- until the CMAP recovers to baseline (typically 1–2 minutes)
grapher looking for abnormalities. Note that the limb (Figure 36–2). If a decrement occurs after brief exercise
should always be removed from the ice water if weakness and then recovers, the same procedure is repeated several
develops. times to see if the decrement continues to occur or habitu-
ates, which can help differentiate among some of the myo-
tonic syndromes (discussed later).
EXERCISE TESTING
Exercise testing can play an important role in the periodic Prolonged Exercise Test
paralysis and myotonic syndromes. Both short and pro-
longed exercise tests can be performed. In both, a routine For the prolonged exercise test, the recording procedure
distal compound muscle action potential (CMAP) is evoked is the same. The patient is asked to rest for about 5
with supramaximal stimulation (e.g., stimulating the ulnar minutes while a CMAP is recorded every minute, to
nerve at the wrist, recording the abductor digiti minimi ensure the baseline is stable and does not decrease at rest.
[ADM]). The nerve then is stimulated at 1-minute inter- After ensuring a stable baseline, the patient is asked to
vals for several minutes to ensure a stable baseline, before voluntarily contract his or her muscle maximally for 5
exercise is begun. minutes, resting every 15 seconds for a few seconds. After
the 5 minutes of exercise are complete, the patient
relaxes completely. A CMAP is recorded immediately and
Short Exercise Test then every 1 to 2 minutes for the next 40 to 60 minutes.
For the short exercise test, the patient is asked to rest for In the periodic paralysis syndromes, both inherited and
about 5 minutes while a CMAP is recorded every minute, acquired, the CMAP amplitude may be unchanged or
to ensure that the baseline is stable and does not decrease slightly larger immediately after prolonged exercise and
at rest. The patient is then asked to perform maximal vol- then decline substantially over the next 20 to 60 minutes
untary contraction for 5 to 10 seconds. Immediately (Figure 36–3).
Table 36–1. Clinical Features of Myotonic and Periodic Paralysis Disorders
Myotonic Myotonic Myotonia Myotonia Sodium Hyperkalemic Andersen–
Dystrophy, Dystrophy, Congenita: Congenita: Channel Paramyotonia Periodic Hypokalemic Tawil
Type 1 Type 2 Dominant Recessive Myotonia Congenita Paralysis Periodic Paralysis Syndrome
Age at onset Teens to early Teens to Infancy Early childhood Childhood to Infancy Infancy to early Early teens Childhood or
adult mid-adult early teens childhood early teens
Inheritance Autosomal Autosomal Autosomal Autosomal Autosomal Autosomal Autosomal Autosomal Autosomal
dominant dominant dominant recessive dominant dominant dominant dominant dominant
Gene defect Protein kinase, Zinc finger Chloride Chloride Sodium Sodium Sodium Calcium channel, Potassium
chromosome protein-9, channel, channel, channel, channel, channel, chromosome 1q channel,
19q (DMPK chromosome chromosome chromosome chromosome chromosome chromosome (type 1) chromosome
gene) 3q (ZNF9 7q (CLCN 7q (CLCN 17q (SCN4A 17q (SCN4A 17q (SCN4A (CACNA1S gene) 17q (KCNJ2
gene) gene) gene) gene) gene) gene) Sodium channel gene)
chromosome
17q (type 2)
(SCN4A gene)
Myotonia Yes Yes Yes Yes Yes Yes Yes No No
Distribution of Distal more Proximal and Generalized Generalized Proximal more Face, hands, Generalized, if None None
myotonia than proximal distal than distal thighs present
Periodic No No No Yes, in some No Yes Yes Yes Yes, in some
weakness patients patients
Duration of N/A N/A N/A N/A N/A Minutes to days Minutes to days Hours to days
weakness
Progressive Yes Yes No Rarely No No Variable Yes Yes
weakness
Extramuscular Yes Yes No No No No No No Yes
involvement
Provocative None None Cold Cold Potassium, Cold, exercise, Cold, rest after Cold, rest after Rest after
factors delay after fasting exercise, exercise, exercise,
exercise emotional emotional stress, alcohol
stress, fasting, carbohydrates,
potassium alcohol
loading
Alleviating None None Exercise Exercise Unknown Warming Carbohydrates, Potassium, mild Mild exercise
factors mild exercise exercise
Box 36–2. Protocol for Evaluation of Myotonic and Periodic Paralysis Disorders
1. Routine motor and sensory nerve conduction studies should C. Have the patient perform maximum voluntary
be done first. Generally one or two motor and sensory contraction for 5 to 10 seconds.
conduction studies and corresponding F responses in an D. Record the CMAP immediately. If a decrement in
upper and lower extremity should be performed. Distal amplitude is seen, continue to record the CMAP every
CMAPs may be low in the dystrophic myopathies. Proceed 10 seconds until it recovers to baseline (typically 1–2
to needle EMG. minutes).
2. Needle EMG study is carried out after standard conduction E. In cases where a decrement is seen after exercise,
studies are completed. The study should include proximal repeat the same procedure several times to see if
and distal muscles of one upper and lower extremity, as well a decrement in the CMAP continues to occur or
as facial and paraspinal muscles. Careful note should be habituates.
made of abnormal spontaneous activity, including myotonic 5. Prolonged exercise test is performed if steps 1, 2, 3, and 4
discharges, complex repetitive discharges, fibrillation do not yield a definitive diagnosis.
potentials and positive waves, and MUAP potential A. Immobilize hand. Record supramaximal CMAP at
configuration and recruitment pattern. abductor digiti minimi, stimulating ulnar nerve at the
3. Muscle cooling is carried out if there is a clinical suspicion wrist.
of paramyotonia congenita. B. Record the CMAP once per minute for 5 minutes with
A. Wrap the limb in a plastic bag, submerge in ice water for muscle at rest to ensure a stable baseline.
about 10 to 20 minutes to bring skin temperature to C. Have the patient perform maximal voluntary muscle
20°C. Remove the patient’s hand from water. The hand contraction for 2 to 5 minutes, resting every 15 seconds
should always be removed from the ice water if for 3 to 4 seconds.
weakness develops. D. After the 5 minutes of exercise are complete, have the
B. Needle EMG of a distal forearm or hand muscle is patient relax completely.
performed, noting the presence of abnormal E. Record the CMAP immediately, then every 1 to 2
spontaneous activity (e.g., fibrillation potentials, minutes for 40 to 60 minutes afterward or until there is
myotonic bursts) and MUAPs with voluntary no further decline observed in the CMAP (this can go on
contraction. for >1 hour). Decrement is calculated as follows: (Highest
C. Allow muscle to rewarm to precooling temperature and CMAP amplitude after exercise − Smallest CMAP
continue to record EMG activity (may take >1 hour). amplitude after exercise)/(Highest CMAP amplitude after
4. Short exercise test is performed if steps 1, 2, and 3 do not exercise × 100). Any decrement >40% definitely is
yield a definitive diagnosis. abnormal.
A. Immobilize hand. Record supramaximal CMAP at F. Note that immediately after exercise, the CMAP may be
abductor digiti minimi stimulating ulnar nerve at the larger, before the slow decline in amplitude takes place.
wrist. This finding is more common when the pre-exercise rest
B. Record the CMAP once per minute for 5 minutes with produces a drop in CMAP, as seen in the periodic
muscle at rest to ensure no decrease in the baseline paralyses.
CMAP. 6. Repetitive nerve stimulation at 10 Hz.
CMAP, compound muscle action potential; EMG, electromyography; MUAP, motor unit action potential.
REPETITIVE NERVE STIMULATION and recruitment pattern are abnormal, are they
myopathic or neurogenic?
Many of the same findings on exercise testing can also be 3. Is there an effect of muscle cooling on the needle
found with repetitive nerve stimulation (RNS). Decre- examination?
ments are not uncommon with RNS in the myotonic syn- 4. What does the short exercise testing show?
dromes. Although decrements may be seen with slow 5. What does the prolonged exercise testing show?
repetitive stimulation (3 Hz), they are more common with
6. What does the repetitive nerve stimulation show?
faster frequencies, typically 10 Hz. Abnormalities are not
seen in all patients; when present, they are not specific to
any individual syndrome. DYSTROPHIC MYOTONIC
When all the available electrophysiologic techniques are MUSCLE DISORDERS
used, the correct diagnosis usually can be determined by
answering several key questions (Table 36–2): Myotonic Dystrophy
1. Are routine nerve conduction studies normal? The myotonic dystrophies are among the most common of
2. On concentric needle EMG: the myotonic muscle disorders. They are an autosomal
A. Are myotonic discharges present on needle EMG, dominant inherited, multisystem disorder characterized by
and, if present, are they widespread or focal? If progressive facial and limb muscle weakness, myotonia, and
focal, what is the distribution, proximal or distal? involvement of several organ systems outside of skeletal
B. Are the MUAPs and recruitment pattern on EMG muscle. Myotonic dystrophy type 1 (DM1) is the most
examination normal or abnormal? If the MUAPs common; it is due to a defect in the protein kinase
Chapter 36 • Myotonic Muscle Disorders and Periodic Paralysis Syndromes 567
15
5 mV
2 ms
62 8% fall
10
Amplitude (mV)
52
42
32
22 5
12 3 1/2 minutes
exercise
2
0
10-sec exercise 5 15 25 35 45 55
Minutes after exercise
15
FIGURE 36–2 Short exercise test in the myotonic syndromes. 39%

After a brief maximal voluntary contraction, the compound muscle increase
10 62%
Amplitude (mV)
action potential (CMAP) immediately decrements in the myotonic decrease
syndromes. If subsequent CMAPs are evoked every 10 seconds,
the decrement recovers to baseline in 1 to 2 minutes in myotonic
dystrophy and myotonia congenita (top). Numbers on the left refer to
5 5 minutes
the time in seconds measured after the exercise. In paramyotonia
congenita, the recovery may be quite delayed, in the range of 10 to exercise
60 minutes.
(From Streib, E.W., 1987. AAEE minimonograph, no. 27: differential diagnosis of
0
myotonic syndromes. Muscle Nerve 10, 606, with permission.)
5 15 25 35 45 55
Minutes after exercise
FIGURE 36–3 Typical pattern of response on prolonged exercise
myotonin [dystrophia myotonica-protein kinase (DMPK)] test in periodic paralysis. After 3 to 5 minutes of prolonged
gene on chromosome 19q. The gene defect itself is an exercise, the compound muscle action potential (CMAP) amplitude
unstable expansion of a CTG trinucleotide repeat in the recorded every 1 to 2 minutes shows little change in normal controls
untranslated region of the myotonin gene. Age of onset and (top). In the periodic paralysis syndromes, there is frequently an
increment immediately after exercise, followed by a slow decrement
severity of symptoms are variable and proportional to the over the next 30 to 40 minutes (bottom). Decrements of more than
size of the abnormal CTG trinucleotide repeats, which 40% definitely are abnormal.
expands over subsequent generations. This phenomenon of (Reprinted from McManis, P.G., Lambert, E.H., Daube, J.R., 1986. The exercise
test in periodic paralysis. Muscle Nerve 9, 704, with permission.)
“anticipation” results in an earlier onset and more severe
course in subsequent generations. Myotonic dystrophy type
2 (DM2), also known as proximal myotonic myopathy
(PROMM syndrome) and proximal myotonic dystrophy resulting in a narrow, elongated face and horizontal smile,
(PDM), is due to a defect in the zinc-finger protein-9 with ptosis, and distal muscle wasting and weakness (Figure
(ZNF9) gene on chromosome 3q. The gene defect itself is 36–4). Patients with a smaller CTG repeat may not have
an unstable expansion of a CCTG repeat in intron 1 of the the typical facial appearance. Weakness of neck flexion is
zinc-finger protein-9 gene. also an early sign, and patients may notice difficulty lifting
their head off the pillow or a tendency for the head to fall
Myotonic Dystrophy Type 1 backwards during acceleration. DM1 is distinguished from
Clinical many of the other myotonic disorders by the progressive
Patients with DM1 generally present in their late teens distal weakness as well as involvement of several organ
with mild distal weakness and delayed muscle relaxation, systems outside of skeletal muscle resulting in cataracts,
such as difficulty releasing their hand grip. This disorder is cardiac conduction and pulmonary defects, endocrine dys-
distinguished from other muscle disorders by the distal function, testicular atrophy, hypersomnia, gynecologic
rather than proximal predominance of weakness, as well as problems, and, in some patients, mild to moderate cogni-
the myotonia. The myotonia is less marked than in the tive impairment. As in the other myotonic and periodic
myotonia congenitas. In classic myotonic dystrophy, paralysis syndromes, patients with myotonic dystrophy
patients experience stiffness that improves with repeated should be warned against potential anesthetic complica-
contractions. Thus, patients often report that repeated tions of succinylcholine and anticholinesterase agents.
opening and closing of the hand results in a faster relaxation The clinical examination in a patient suspected of having
time with each grip. As the weakness progresses over years, myotonic dystrophy is directed at recognition of the typical
the myotonic symptoms generally recede. facies, i.e., demonstration of bifacial, neck flexor, and distal
There is a distinctive clinical appearance characterized by wasting and weakness, and demonstration of grip and per-
bifacial weakness, temporal wasting, and frontal balding, cussion myotonia. Percussion myotonia can generally be
Table 36–2. Electrophysiologic Testing in Myotonic and Periodic Paralysis Disorders
Myotonic Myotonic Myotonia Myotonia Sodium Hyperkalemic Hypokalemic
Dystrophy, Dystrophy, Congenita: Congenita: Channel Paramyotonia Periodic Periodic Andersen–Tawil
Test Type 1 Type 2 Dominant Recessive Myotonia Congenita Paralysis Paralysis Syndrome
Nerve conduction Normal or Normal Normal Normal Normal Normal Normal between Normal between Normal
studies decreased distal attacks; attacks;
CMAPs decreased decreased
CMAP CMAP
amplitude amplitude
during attack during attack
of weakness of weakness
EMG Myotonia ++D >P ++D >P (upper +++P and D +++P and D ++P and D ++P and D ++P and D, No myotonia No myotonia
MUAPs Myopathic D extremity); Normal Usually NL, Normal Normal especially Myopathic Normal
D = P (lower ±Myopathic during attack late in course
extremity) Myopathic late
Occasional in course
CRDs
Myopathic P
Muscle cooling No effect Unknown May lead to No effect Unknown Transient dense No effect No effect No effect
(20°C) on increased fibrillation potentials
electromyography duration of that disappear
myotonic below 28°C;
bursts; myotonic bursts
easier to disappear below
elicit 20°C electrical
silence, long lasting
muscle contracture
at 20°C
Short exercise Drop in CMAP Not well Variable drop Large drop in Unknown Normal or small No effect or No effect or No effect
amplitude; quick documented in CMAP CMAP increment in a warm transient transient
recovery over 2 amplitude; amplitude; muscle; marked increase in increase in
minutes; drop is quick delay in drop in CMAP CMAP CMAP
smaller or does recovery recovery may amplitude and very amplitude amplitude
not persist on over 2 become slow recovery over during an during an
subsequent trials minutes progressive 1 hour in cooled attack of attack of
over time muscle weakness weakness
Prolonged exercise Small decrement Unknown Unknown Small decrement Unknown Moderate decrement Most with initial Most with initial Most with initial
immediately immediately immediately after increase in increase in increase in
after exercise, after exercise, exercise, maximal at CMAP CMAP CMAP
with recovery with recovery 3 minutes, with slow amplitude amplitude amplitude
over 3 minutes over 3 minutes recovery over 1 (∼35%); (∼35%); (∼35%);
hour in cooled progressive progressive progressive
muscle drop in CMAP drop in CMAP drop in CMAP
amplitude amplitude amplitude
(∼50%) over (∼50%) over (∼50%) over
20 to 40 20 to 40 20 to 40
minutes with minutes with minutes with
slow recovery slow recovery slow recovery
over 1 hour over 1 hour over 1 hour
10 Hz RNS Decrement Not well Decrement Large decrement Not Normal Normal Normal Normal
documented documented
CMAP, compound muscle action potential; CRD, complex repetitive discharge; D, distal; EMG, electromyogram; MUAP, motor unit action potential; NL, normal; P, proximal; RNS, repetitive nerve stimulation.
1. Routine motor and sensory nerve conduction studies

are normal as a rule. Generally, one motor and
sensory nerve conduction study and F responses in
an upper and lower extremity will suffice. A mild
neuropathy has been described, perhaps secondary to
the accompanying endocrine changes. Low CMAP
amplitudes may be noted secondary to the distal
myopathy in patients with severe disease.
2. Concentric needle EMG of at least one upper and
one lower extremity should be performed, in addition
to sampling facial and paraspinal muscles. Most but
not all patients with DM1 will demonstrate myotonic
discharges on EMG. In very mild cases (e.g., in
patients with a small increase in the number of
repeats), myotonic discharges may be difficult to find.
Otherwise, myotonic discharges are generally most
prominent in the distal hand, forearm extensor, foot
dorsiflexor (tibialis anterior), and facial muscles but
FIGURE 36–4 Typical facies in myotonic dystrophy. Note frontal
usually are not found in proximal muscles. The
balding, ptosis, temporal wasting, elongated face, horizontal smile. distribution of myotonic discharges follows the same
(Reprinted from Brooke, M.H., 1986. A clinician’s view of neuromuscular pattern as the weakness. Myotonic discharges in DM1
disease. Williams & Wilkins, Baltimore, with permission.)
are the classic waxing and waning muscle fiber action
potentials (Figure 36–5A). MUAP analysis may be
difficult because of the myotonic discharges provoked
elicited most easily over the thenar muscles and long finger by needle insertion or muscle contraction. However,
extensors. Eyelid myotonia is not seen. Deep tendon careful examination reveals myopathic (low ampli-
reflexes often are reduced or absent in the lower extremi- tude, short duration, polyphasic) MUAPs with early
ties as the disease progresses. Slit lamp examination reveals recruitment, which are generally noted in the forearm
posterior capsular cataracts, which early on have a charac- extensor and tibialis anterior muscles, consistent with
teristic multicolored pattern. Approximately 10% of cases the distal predominant weakness on clinical
are congenital, characterized by severe weakness and hypo- examination.
tonia at birth and mental retardation. Children with the 3. Muscle cooling to 20°C has no appreciable effect on
congenital form are floppy at birth, have a typical tented the EMG examination.
upper lip with poor sucking and swallowing, and often have
4. The short exercise test produces a drop in the CMAP
contractures. Surprisingly, clinical myotonia is not present
amplitude immediately after exercise. If the CMAP
the first year of life. The congenital form nearly always is
then is recorded every 10 seconds up to 2 minutes, it
maternally inherited. In many cases, the mother may be so
recovers to baseline. If short exercise is repeated, the
minimally affected that her diagnosis is not made until the
decremental response habituates after one or two
infant is born with severe hypotonia and a myopathic facies.
cycles, with no further decrement in the CMAP
Creatine kinase (CK) levels may be mildly to moderately
occurring immediately after exercise.
elevated. Muscle biopsy typically reveals a mild increase in
5. Repetitive nerve stimulation at 10 Hz produces a
connective tissue, increased variation in fiber size, atrophy
decrement, similar to the short exercise test.
of type I muscle fibers, increase in central nuclei, ring
fibers, and occasional small angulated fibers. When electrophysiologic testing is completed, one has
The clinical severity of DM1 is directly related to the established the presence of myotonia with myopathic
number of CTG repeats. In normals, the number varies MUAPs on the needle examination, with a distal and facial
between 5 and 37, whereas in patients with DM1 the muscle predominance. There is no effect of muscle cooling.
number of CTG repeats may range into the thousands. In The short exercise test demonstrates a decrement that
patients with a very small increase in the number of repeats recovers over 1 to 2 minutes and habituates with further
(50–100), less than a half of these patients are sympto- cycles. This pattern of abnormalities strongly suggests the
matic, and most of these patients have cataracts only. More diagnosis of myotonic dystrophy type 1. Note that when a
typically symptoms and signs of DM1 are present in patients patient presents with typical signs and symptoms of myo-
with over 100 repeats. tonic muscular dystrophy, muscle cooling, exercise testing,
and repetitive nerve stimulation are not necessarily done
Electrophysiologic Evaluation on a routine basis, but may be helpful in some clinical situ-
The electrophysiologic evaluation of DM1 (Table 36–2) ations, when the diagnosis is still in question after standard
consists of routine nerve conduction studies, electromyog- nerve conduction studies and EMG needle examination are
raphy, muscle cooling, and exercise testing. completed.
100 µV
100 ms
B
50 µV
200 ms
FIGURE 36–5 Myotonic discharges. A: Two-second myotonic discharge in a patient with DM1 showing typical waxing and waning frequency
and amplitude; maximal frequency about 60 Hz, minimal frequency about 8 Hz. B: Four-second myotonic discharge (two successive oscilloscope
sweeps) in a patient with DM2 in which frequency and amplitude gradually decline with no waxing component; maximal frequency toward onset
about 23 Hz, minimal frequency toward termination about 19 Hz.
(With permission from Logigian, E.L., Ciafaloni, E., Quinn, L.C., et al., 2007. Severity, type, and distribution of myotonic discharges are different in type 1 and type 2
myotonic dystrophy. Muscle Nerve 35, 479–485.)
Myotonic Dystrophy Type 2 2. Concentric needle EMG of at least one upper and
Clinical one lower extremity and paraspinal muscles should
DM2 has many features in common with DM1. Like be performed. In contrast to DM1, the myotonic
DM1, it is an autosomal dominant inherited muscle disor- discharges tend to be predominantly waning potentials
der recognized by a constellation of signs, including bifa- (Figure 36–5B). These potentials are less specific
cial weakness, ptosis, progressive weakness, myotonia, and than the classic waxing and waning discharges typi-
involvement of several organ systems outside of skeletal cally associated with myotonia. The distribution of
muscle. Patients typically present after the age of 40 with the myotonic discharges in the upper extremities in
progressive weakness. Unlike myotonic dystrophy, DM2 is surprisingly more prominent in the distal than
however, the weakness involves predominantly proximal, in the proximal muscles, similar to DM1. The leg,
as opposed to distal, muscles. The pattern of weakness however, is different. Although myotonic discharges
typically involves the hip flexors and extensors, neck are present in distal muscles (e.g., the tibialis ante-
flexors, elbow extensors, and finger and thumb flexors. rior), the number of myotonic discharges is not
Anticipation is generally not seen between generations of significantly greater in distal than in proximal muscles
affected family members. Like DM1, the multisystem (e.g., tensor fascia lata). Thus, the presence of
involvement may include posterior capsular cataracts, myotonic discharges in the proximal lower extremity
frontal balding, testicular atrophy, and cardiac conduction muscles is much more common in DM2 than DM1.
defects. However, CNS involvement does not occur or is Similar to DM1, the absence of myotonic discharges
much less common. does not exclude the diagnosis of DM2. Complex
Patients are recognized by their presentation of proximal repetitive discharges are noted occasionally. MUAP
greater than distal weakness, with mild bifacial weakness analysis reveals myopathic (low amplitude, short
and ptosis in the setting of grip and percussion myotonia. duration, polyphasic) MUAPs with early recruitment,
Many patients have a peculiar intermittent pain syndrome which are generally noted in the proximal lower
in the thighs, arms, or back. CK may be mildly to moder- extremity muscles.
ately elevated, and the muscle biopsy reveals a nonspecific Once the nerve conduction studies and EMG are
myopathic pattern, including increased variation in fiber completed, the presence of myotonia with myopathic
size, small angulated fibers, pyknotic nuclear clumps, pre- MUAPs has been established on needle examination,
dominant atrophy of type II fibers, and increased central present primarily in proximal muscles of the lower
nuclei. Rare cases of isolated elevated CK (“hyper-CKemia”) extremity, and distal muscles of both the upper and
without other clinical or electrical abnormalities have been lower extremities. Few disorders associated with
reported in DM2. myotonia have a proximal predominance with myo-
pathic MUAPs. Rarely, prominent myotonic dis-
Electrophysiologic Evaluation charges, complex repetitive discharges, and myopathic
See Table 36–2. MUAPs in the very proximal muscles are noted in
1. Routine motor and sensory nerve conduction studies patients with adult-onset acid maltase deficiency. In
are normal as a rule. Generally, one motor and this disorder, however, the myotonic discharges are
sensory nerve conduction study and F responses in an generally restricted to the paraspinal muscles. Myot-
upper and lower extremity will suffice. onic discharges also may be seen in some cases of
polymyositis, where abnormal spontaneous activity childhood. Patients generally present with painless myoto-
and MUAP changes are more prominent proximally. nia resulting in muscle stiffness that is nonprogressive.
However, myotonic discharges are only infrequently Muscle hypertrophy is common, secondary to the almost
seen in polymyositis. In the myotonia congenitas, constant state of muscle contraction. The stiffness worsens
myotonic discharges are noted mostly in proximal after rest or with cold and diminishes with exercise. The
muscles as well, but with rare exception (i.e., some myotonia may also be exacerbated during pregnancy, from
cases of recessive generalized myotonia congenita), hunger, and secondary to emotional upset. Patients typi-
there are no myopathic MUAP changes. cally describe a warm-up period, during which they can
3. The effects of muscle cooling and the short and work through the muscle stiffness. For example, it is not
prolonged exercise tests have not been well described uncommon for a patient to describe difficulty rising from
for this disorder. Short exercise testing in one patient a chair after sitting for a few minutes or difficulty climbing
personally examined by the authors revealed no drop up the first few steps of a stairway, which then improves.
in the CMAP amplitude recording from a distal hand In the autosomal dominant form, muscle hypertrophy is
muscle. This negative finding may reflect the proximal often noted in the proximal arms, thighs, and calves. Grip
predominance of weakness. and percussion myotonia are easily elicited. CK levels may
be slightly elevated in the dominant form and moderately
elevated in the recessive form. Muscle biopsy may show a
NONDYSTROPHIC MYOTONIC lack of type IIB fibers.
MUSCLE DISORDERS AND
PERIODIC PARALYSIS SYNDROMES Electrophysiologic Examination
See Table 36–2.
Myotonia Congenita
1. Routine motor and sensory nerve conduction studies
Myotonia congenita is distinguished from the dystrophic are normal as a rule. Generally, one motor and
muscle disorders by the lack of weakness in most patients sensory nerve conduction study and F responses in an
and by the absence of extramuscular abnormalities. Two upper and lower extremity will suffice.
forms of myotonia congenita have classically been recog- 2. Concentric needle EMG of at least one upper and
nized. An autosomal dominant form, Thomsen disease, was one lower extremity and paraspinal muscles gener-
first described in 1876 by Julius Thomsen, who was himself ally shows widespread myotonic discharges, which
affected. Thomsen noted the great variability among his are easily elicited with minimal needle movement
own affected family members; it was barely apparent in or muscle contraction in proximal and distal
his mother and uncle, but very severe in his younger brother muscles. In the dominant form, the MUAPs and
and sister. An autosomal recessive form of generalized myo- recruitment pattern are normal. In the recessive
tonia congenita was first described by Becker. The recessive form, there may be mildly myopathic MUAPs with
form is characterized by later onset, marked myotonia, and early recruitment.
moderate muscular hypertrophy. Late in the course, there
3. Muscle cooling to 20°C in the dominant form may
may be minor weakness and atrophy of the forearm and
produce myotonic bursts of longer duration that may
neck muscles, though it is still considered a nondystrophic
be more easily elicited than at room temperature.
syndrome. Some patients with recessive myotonia congenita
4. The short exercise test produces a drop in CMAP
also experience transient attacks of weakness that are re-
amplitude immediately after exercise, which recovers
lieved with exercise. Both the recessive and dominant forms
over 1 to 2 minutes with repeated recording of the
of myotonia congenita arise from a skeletal muscle chloride
CMAP every 10 seconds (Figure 36–2). Muscle
channel-1 (CLCN) gene defect on chromosome 7q.
cooling has no appreciable effect on the exercise test.
Other myotonia congenita phenotypes have also seen
This is unlike paramyotonia congenita (see section on
described, but with mutations on the muscle sodium
Paramyotonia Congenita), in which a decremental
α-subunit (SCN4A) gene on chromosome 17. These atypi-
response recovers very slowly over many minutes, if
cal myotonia congenitas include potassium aggravated myo-
the muscle is cooled. In the recessive form of myoto-
tonia (PAM), myotonia permanens, myotonia fluctuans,
nia congenita, the initial drop in amplitude often is
and acetazolamide responsive myotonia. This is the same
profound with a delay in recovery that may become
sodium channel gene with mutations that result in hyper-
progressive over time. In the dominant form, the
kalemic periodic paralysis, paramyotonia congenita, and
decrement is variable with a quick recovery.
rare cases of hypokalemic periodic paralysis. These atypical
myotonia congenitas are discussed with the periodic paraly- 5. Repetitive nerve stimulation at 10 Hz may result in
ses and paramyotonia congenita disorders below to which large decrements (often greater than 40%) in two
they are more closely related. thirds of patients with recessive myotonia congenita,
in contrast to only one third that demonstrate a
Clinical decrement using the short exercise test. Thus, RNS
Onset of the dominant form is generally in infancy or early may be a useful adjunct in the evaluation of patients
childhood; onset of the recessive form is usually later in with recessive myotonia congenita.
The electrodiagnosis of myotonia congenita is based on Sodium Channel Myotonia Congenita

the presence of widespread myotonic discharges with Patients with sodium channel myotonia congenita, also
normal MUAPs and recruitment pattern on needle exami- known as potassium-aggravated myotonia (PAM), present
nation. The responses to muscle cooling, the short exercise with episodes of generalized stiffness secondary to myoto-
test and RNS can then be used to differentiate it from nia. The disorder is quite potassium sensitive, with worsen-
paramyotonia congenita. ing of symptoms by potassium ingestion but in most
patients no worsening with cold. These patients do not
Paramyotonia Congenita, Hyperkalemic experience true episodic weakness. The myotonia may be
Periodic Paralysis, and Sodium Channel painful and has a peculiar feature in that it is exercise
Myotonia Congenita induced, with a delay in the onset of the myotonia for
several minutes after exercise. Several variants with various
Paramyotonia congenita, hyperkalemic periodic paralysis,
names, depending on the severity and quality of the fluc-
and sodium channel myotonia are associated with distinct
tuating stiffness and its response to treatment, have been
mutations of the voltage-gated sodium channel α-subunit
described. All are inherited in an autosomal dominant
(SCN4A) gene on chromosome 17q. Each of these condi-
fashion. These variants include myotonia fluctuans, myoto-
tions is inherited in an autosomal dominant fashion.
nia permanens, and acetazolamide-responsive myotonia.
Clinical Myotonia permanens is the most severe, often associated
Patients with paramyotonia congenita and hyperkalemic with continuous myotonic discharges on EMG. In some
periodic paralysis experience attacks of weakness; patients reported cases, retarded growth and dysmorphic facial fea-
with sodium channel myotonia congenita do not experience tures have been noted.
weakness.
Electrophysiologic Examination
Paramyotonia Congenita See Table 36–2.
Paramyotonia congenita was first described by Eulenburg in
1886. Patients present in infancy with muscle stiffness that Paramyotonia Congenita
primarily affects the bulbofacial, neck, and hand muscles. 1. Routine motor and sensory nerve conduction studies
In paramyotonia, muscle stiffness is brought on by repeated are normal as a rule. Generally, one motor and
muscle contraction or exercise, as opposed to myotonia, in sensory nerve conduction study and F responses in an
which a warm-up period of repeated muscle contraction upper and lower extremity will suffice.
alleviates the muscle stiffness. Thus, the designation is 2. Concentric needle EMG of at least one upper and
paradoxical, or paramyotonia. Muscle stiffness also is trig- one lower extremity and paraspinal muscles generally
gered by exposure to cold. In most patients, cold induces shows easily elicited myotonic discharges in proximal
attacks of stiffness followed by true weakness, especially and distal muscles, although not as easily elicited as in
during prolonged exercise in cold temperatures. It may take the myotonia congenitas. The myotonia may be more
hours to regain strength despite warming. The first signs prominent in distal muscles. The MUAPs are normal
often occur when the infant is noted to have prolonged eye in amplitude and duration with a normal pattern of
closure after crying or sleeping near a fan or after having recruitment.
his or her face washed with cool water. Patients often are Once the presence of myotonia has been established
very muscular. on needle examination, with normal MUAPs and
Hyperkalemic Periodic Paralysis recruitment pattern, muscle cooling and exercise
Patients with hyperkalemic periodic paralysis present in testing may be helpful.
early childhood with attacks of periodic weakness that are 3. Muscle cooling to 20°C may have a profound effect
provoked by rest after exercise, fasting, emotional stress, on the needle EMG, which is pathognomonic for this
cold, and potassium loading. Weakness commonly occurs disorder. Transient dense fibrillation potentials appear
in the morning after awakening from sleep. Some patients with cooling and eventually disappear below 28°C.
can forestall an impending attack with mild exercise. As the muscle cools down further, all myotonic
Attacks of weakness usually are brief, lasting from minutes discharges completely disappear below 20°C, giving
to hours, and generally are accompanied by hyporeflexia. way to paralysis of the muscle. At this point the
Rare patients experience prolonged attacks of weakness. muscle is inexcitable to electrical or mechanical
Weakness usually is generalized but spares the facial and stimulation as the muscle goes into a long-lasting,
respiratory muscles. The potassium level usually is elevated electrically silent contracture. This state may last over
during attacks, although in some patients it is normal. an hour after the muscle is warmed to room tempera-
Symptoms are relieved by ingesting carbohydrates or inhal- ture. Note that the hand should always be removed
ing a β-adrenergic agent. Myotonia, if present, can be vari- from the ice water if weakness develops.
able. In some patients, the myotonia is detected only on 4. Repetitive nerve stimulation at 10 Hz results in no
EMG testing, whereas in others myotonia is elicited on decrement.
physical examination. The frequency of attacks generally 5. The short exercise test results in no decrement and
lessens in middle age, and some patients develop fixed in some cases a slight increment when the muscle
progressive proximal weakness in adulthood. is warm at room temperature. However, with the
12 Baseline 3. Muscle cooling has no appreciable effect on the

needle EMG findings.
10
Once the presence of myotonia has been established
on needle examination, with normal or myopathic
Amplitude (mV)
MUAPs, the next step is exercise testing.

8 4. The short exercise test produces no decrement.
5. The prolonged exercise test often produces an
6 immediate increase in the CMAP amplitude, espe-
cially if the initial amplitude is low. This is followed,
however, by a progressive drop in the CMAP ampli-
4 After 10 seconds of exercise
tude by about 50% over 20 to 40 minutes, with most
of the decline occurring in the first 20 minutes
0 10 20 30 40 50 60 (Figure 36–3). It should be noted that a similar
Time (min) decline in the CMAP may be noted by simply
FIGURE 36–6 Typical response on the short exercise test immobilizing the muscle without exercise. If there is
in paramyotonia congenita. After a brief maximal voluntary a decline in the CMAP with rest, then exercise may
contraction, the compound muscle action potential immediately produce a brief increment in the CMAP.
decrements in the myotonic syndromes. In paramyotonia congenita,
the recovery may be quite delayed, in the range of 10 to 60 minutes, Sodium Channel Myotonia Congenita
especially if the muscle is cooled, compared with myotonic dystrophy
or myotonia congenita, in which the repair occurs over 1 to 2 1. Routine motor and sensory nerve conduction studies
minutes. are normal as a rule. Generally, one motor and
(From Streib, E.W., 1987. AAEE minimonograph, no. 27: differential diagnosis of sensory nerve conduction study and F responses in an
myotonic syndromes. Muscle Nerve 10, 603, with permission.)
upper and lower extremity will suffice.
2. Concentric needle EMG examination of at least one
upper and one lower extremity and paraspinal muscles
generally shows myotonic discharges, which are
muscle cooled, the short exercise may produce a large elicited in proximal and distal muscles. The MUAPs
drop in CMAP amplitude that shows a marked delay are normal in amplitude and duration with normal
in recovery to the baseline CMAP amplitude with recruitment.
repeated recording of the CMAP up to 1 hour (Figure 3. The effects of muscle cooling, short and prolonged
36–6). This is unlike myotonic dystrophy or the exercise testing, and repetitive stimulation are not
chloride channel myotonia congenitas, in which well documented.
the drop in CMAP amplitude recovers to baseline
over 1 to 2 minutes, although in recessive myotonia Hypokalemic Periodic Paralysis
congenita the delay in recovery may become
Hypokalemic periodic paralysis is not a myotonic disorder.
progressive over time.
However, the clinical features of periodic attacks of flaccid
Hyperkalemic Periodic Paralysis weakness and the development of fixed proximal weakness
1. As a rule, routine motor and sensory nerve conduction later in life resemble the sodium channel disorders dis-
studies are normal if performed between attacks of cussed earlier. This is an autosomal dominant inherited
weakness. Generally, one motor and sensory nerve disorder associated with a defect in the α subunit of a
conduction study and F responses in an upper and voltage-sensitive muscle calcium channel (CACNA1S)
lower extremity suffice. During an attack of weakness, gene on chromosome 1q (hypokalemic periodic paralysis
the CMAP amplitudes may decline proportionally to type 1). More recently, mutations were identified in the α
the degree of weakness. subunit of the sodium channel gene (SCN4A) on chromo-
2. Concentric needle EMG of at least one upper and some 17q, and the term hypokalemic periodic paralysis
one lower extremity and paraspinal muscles between type 2 was used to designate this small group of patients,
attacks may be normal in amplitude and duration with who are clinically indistinguishable from those with hypo
a normal pattern of recruitment, but in some patients kalemic periodic paralysis type 1. Both types result from
myopathic MUAPs may be found. In patients with missense mutations in the voltage-sensor domains of their
hyperkalemic periodic paralysis with myotonia, respective channel. This similarity suggests a common func-
myotonic discharges may either increase or appear for tional defect produced by these voltage-sensor mutations,
the first time during an attack of weakness in patients and may explain why different mutations on two different
whose baseline EMG does not show myotonic channels result in hypokalemic periodic paralysis.
discharges. Myotonic discharges are seen early in the At least 20% of cases remain genetically undetermined.
attack but then disappear as weakness progresses.
During an attack of weakness, there is a reduction in Clinical
the size and number of MUAPs recruited in weak Patients with hypokalemic periodic paralysis present in
muscles. their teenage years with attacks of periodic weakness.
Attacks are provoked by cold, carbohydrate ingestion, Andersen–Tawil Syndrome

alcohol, emotional stress, and rest after exercise. Some
patients can forestall an impending attack with mild Andersen–Tawil syndrome (ATS) is characterized by a clini-
exercise. Attacks of weakness may be quite prolonged, cal triad of periodic paralysis, ventricular arrhythmias, and
generally occurring on awakening from sleep and rarely dysmorphic facial features. This is an autosomal dominant
involving respiratory muscles. Weakness often is accompa- inherited disorder associated in most families with muta-
nied by hyporeflexia. The potassium level usually is low tions in the Kir2.1 subunit of the inward rectifying potas-
during attacks, although in some cases it is normal. Myot- sium channel (KCNJ2) gene on chromosome 17q, resulting
onia is not present either clinically or with EMG testing, in dysfunctional inward rectifier potassium channels.
with the exception of eyelid myotonia in some patients. Genetic heterogeneity is likely, as no mutations in Kir2.1
Attacks are more frequent in males than females. It is have been found in some families with Andersen–Tawil
not uncommon for females to be so minimally affected syndrome. These families may have mutations in other
or completely unaffected by periodic weakness that they genes that regulate Kir2.1.
are unaware that they have the disorder. All patients,
however, invariably develop progressive proximal weak- Clinical
ness during adulthood, whether or not they have had Patients present in childhood or adolescence, with some or
attacks of periodic paralysis. Muscle biopsy shows a vacu- all features of the clinical triad of periodic paralysis, pro-
olar myopathy. longed QT interval and ventricular arrhythmias, and dis-
tinctive physical features. Characteristic physical features
Electrophysiologic Examination include short stature, high arched palate, low-set ears,
See Table 36–2. broad nose, micrognathia, hypertelorism, clinodactyly of
1. Routine motor and sensory nerve conduction studies the fingers, short index finger, and syndactyly of the toes
are normal as a rule. Generally, one motor and (Figure 36–7). Some patients may have minor neurocogni-
sensory nerve conduction study and F responses in an tive deficits, among them, difficulties with complex
upper and lower extremity will suffice. During an problem-solving, attention and concentration, and solving
attack of weakness, the CMAP amplitudes generally abstract problems. Scoliosis may be present. Neurologic
decline proportionally to the degree of weakness. examination between paralytic attacks may reveal general-
ized limb and neck flexor weakness. There is no associated
2. Concentric needle EMG findings of at least one upper
grip or percussion myotonia. Paralytic attacks may occur
and one lower extremity and paraspinal muscles
spontaneously or may be triggered by rest after exercise or
should show no myotonic discharges. The MUAPs and
alcohol. Some patients report intermittent muscle pain
recruitment pattern are generally normal in the early
without attacks of weakness.
stages of the disorder. As in hyperkalemic periodic
As with other types of periodic paralysis, some patients
paralysis, however, there is a reduction in the size and
can work through the muscle pain by continuing with
number of MUAPs recruited in weak muscles during a
mild exercise. The periodic paralysis may be associated
paralytic attack. As patients develop fixed proximal
with hypo-, hyper-, or normal potassium levels. Prolonged
weakness, myopathic MUAPs with early recruitment
QT interval is the most consistent cardiac manifestation,
are noted in proximal muscles. We studied one elderly
present in about 80% of patients, and may be the only
female patient in the later stages of the disorder with
finding in some individuals from a family with typical ATS
fixed proximal weakness who had large, prolonged
syndrome. In some patients, the long QT interval may be
MUAPs with reduced recruitment in proximal more
asymptomatic. However, patients may present in child-
than distal muscles. Thus, in very chronic myopathies,
hood with cardiac arrest, with no history of periodic paral-
the EMG changes may resemble those of chronic
ysis, although they may experience periodic paralysis in
neurogenic disorders.
later years. Some patients with periodic paralysis and
3. Muscle cooling has no appreciable effect on the
characteristic facial features do not have a prolonged QT
needle EMG findings.
interval at rest, although other electrocardiographic find-
4. The short exercise test produces no decrement. ings may be seen, such as a prominent U wave in the
5. The prolonged exercise test often produces an chest leads.
immediate increase in the CMAP amplitude, espe-
cially if the initial amplitude is low. This is followed,
Electrophysiologic Examination
however, by a progressive drop in the CMAP ampli-
tude by about 50% over 20 to 40 minutes, with most See Table 36–2.
of the decline occurring in the first 20 minutes. It 1. Routine motor and sensory nerve conduction studies
should be noted that a similar decline in the CMAP are normal as a rule. Generally, one motor and
may be noted just by immobilizing the muscle sensory nerve conduction study and F responses in an
without exercise. If there is a decline in the CMAP upper and lower extremity will suffice. During an
with rest, exercise may produce a brief increment in attack of weakness, the CMAP amplitudes generally
the CMAP. decline proportionally to the degree of weakness.
Schwartz–Jampel Syndrome
(Chondrodystrophic Myotonia)
Schwartz–Jampel syndrome (SJS) is a rare, inherited
myotonic-like disorder characterized by distinctive physical
features, skeletal deformities, and muscle stiffness. The
syndrome usually is inherited as an autosomal recessive
condition, but in occasional families, the inheritance pattern
suggests an autosomal dominant disorder. SJS is linked to
chromosome 1q, 1p, or 5p in different families. SJS type
1 is associated with mutations in the gene encoding perle-
can (HSPG2) on chromosome 1p. Perlecan is a heparan
sulfate proteoglycan present in all basement membranes
and is involved in cell adhesion and growth factor signaling.
SJS type 2 is associated with mutations in the leukemia
inhibitory factor receptor (LIFR) gene on chromosome 5p.
The variability in severity of SJS within and between
families suggests that the phenotype may be modified by
several genes.
Clinical
The clinical manifestations of SJS may vary among
affected members of the same family. In general, patients
have muscle stiffness and chondrodysplasia. There is
often predominantly distal weakness and atrophy, which
may be accompanied by prominent proximal upper and
lower extremity muscle hypertrophy. In contrast to the
pseudohypertrophy seen in dystrophinopathies, proximal
limb muscles in SJS are genuinely enlarged. Characteris-
tic facial and physical appearance include short stature,
FIGURE 36–7 Characteristic facial features in Andersen–Tawil short neck, and multiple facial anomalies (micrognathia,
syndrome. Note low-set ears, broad nose, and hypertelorism. low-set ears, pursed lips, prominent eyebrows, upward
(Reprinted from Sansone, V., Griggs, R.C., Meola, G., et al., 1997. Andersen’s
syndrome: a distinct periodic paralysis. Ann Neurol 42, 305–312, with
slanting eyes, blepharophimosis, exotropia, and micro-
permission.) cornea) (Figure 36–8). Approximately 20% of patients
have some degree of cognitive impairment. SJS type 1
manifests at birth or during early childhood with moder-
ate bone dysplasia, muscle hypertrophy, stiffness, and
2. Concentric needle EMG findings of at least one upper dysmorphic facial features. SJS type 2 is the more severe,
and one lower extremity and paraspinal muscles manifesting at birth with contractures, severe long bone
should show no myotonic discharges. The MUAPs and bowing, prominent stiffness, and severe facial and pharyn-
recruitment pattern are generally normal. As with the geal deformities that preclude normal feeding, usually
other periodic paralyses, there may be a reduction in leading to infantile death. Other features include malig-
the size and number of MUAPs recruited in weak nant hyperthermia and susceptibility to carpal tunnel
muscles during a paralytic attack. syndrome.
3. Muscle cooling has no appreciable effect on the SJS had been initially described as a myotonic disorder.
needle EMG findings. However, on EMG, there is increasing evidence that the
4. The short exercise test produces no decrement. abnormal discharges are not myotonic discharges, but
5. The prolonged exercise test often produces an rather neuromyotonic discharges. The discharges can be
immediate increase in the CMAP amplitude, espe- abolished by curare, which strongly implies that the abnor-
cially if the initial amplitude is low. This is followed, mal discharges are of peripheral nerve origin. The discharges
however, by a progressive drop in the CMAP ampli- also persist immediately after nerve transection but com-
tude by about 50% over 20 to 40 minutes, with most pletely disappear when wallerian degeneration has been
of the decline occurring in the first 20 minutes. It completed, which strongly suggests a distal axonal localiza-
should be noted that a similar decline in the CMAP tion of the spontaneous discharges.
may be noted just by immobilizing the muscle
without exercise. If there is a decline in the CMAP Electrophysiologic Examination
with rest, exercise may produce a brief increment in 1. Routine motor and sensory nerve conduction studies
the CMAP. are normal as a rule. Generally, one motor and
physical features, dwarfism, and stiffness accompanied by

muscle enlargement.
OTHER CONDITIONS ASSOCIATED

WITH MYOTONIA
Occasionally, myotonia and periodic paralysis are noted in
the clinical and EMG examinations of various other disease
states (Table 36–1), including acquired periodic paralyses;
various metabolic, inflammatory, and congenital myopa-
thies; and some disorders associated with systemic diseases.
Furthermore, certain drugs can either unmask or precipi-
tate myotonia.
EXAMPLE CASES
Case 36–1
History and Physical Examination
A 29-year-old man was referred for mild distal weakness
and difficulty releasing his hand grip. He first noted dif-
ficulty with releasing his grip approximately 10 years ago,
especially while shaking hands, driving his car, or using a
hammer. Symptoms were not worse in the cold. Family
history was notable for the following: his mother had
early cataracts, several miscarriages, and very mild distal
weakness that began in her late 40s; a maternal aunt had
mild diabetes; and a younger sister had similar complaints
of occasional muscle stiffness.
On examination, the patient’s mental status was unre-
FIGURE 36–8 Typical appearance of Schwartz-Jampel syndrome. markable. On cranial nerve examination, the face was
Note skeletal and facial anomalies including short neck, small mouth,
narrow and elongated, with mild bilateral ptosis, bifacial
micrognathia, pursed lips, upward slanting eyes, blepharophimosis,
low-set ears, and prominent eyebrows. Proximal upper and lower weakness with wasting of the temporalis muscles, and
extremity muscle hypertrophy and distal predominant generalized mild frontal balding. Extraocular movements were full.
weakness and atrophy also are noted. Early cataracts were noted bilaterally. Neck flexors and
(Reprinted from Spaans, F., Theunissen, P., Reekers, A.D., et al., 1990.
Schwartz–Jampel syndrome: I. Clinical, electromyographic, and histologic
distal hand and foot muscles were slightly weak. Marked
studies. Muscle Nerve 13, 516–527, with permission.) percussion myotonia of the tongue and thenar muscles
was noted, with marked hand grip myotonia that
improved with repeated contractions. Deep tendon
sensory nerve conduction study and F responses in an reflexes were depressed in the lower extremities bilater-
upper and lower extremity will suffice. ally, with plantar flexor responses. Sensation and coordi-
nation were normal throughout. Laboratory studies were
2. Concentric needle EMG findings of at least one upper
notable for a mildly elevated CK level (three times
and one lower extremity and paraspinal muscles
normal), normal electrolyte levels and thyroid function
generally show continuous discharges. As noted above,
studies, and normal electrocardiographic findings.
these discharges have a myotonic quality, but close
inspection reveals that they are more likely Summary
neuromyotonic discharges (with a motor unit action
The history is that of a young man in his late 20s with
potential morphology, waning amplitude and
mild distal weakness and difficulty releasing his hand
frequency, and very high initial firing rates). In some
grip. Neurologic examination is notable for a normal
cases, complex repetitive discharges are seen. In
mental status; a long, narrow face with bilateral ptosis,
others, myokymic discharges have been described.
bifacial weakness, temporal wasting, frontal balding, early
3. The effects of muscle cooling, short exercise, and cataracts, mild neck flexion, and distal weakness; hypoac-
prolonged exercise testing are unknown. tive reflexes in the lower extremities; and percussion and
The clinical presentation of SJS is so characteristic that grip myotonia of distal muscles. The myotonia improves
the differential diagnosis is quite limited. The diagnosis is with repeated contractions. In summary, there is clinical
usually established by the combination of characteristic evidence of a dystrophic muscle disorder with key
CASE 36–1. Nerve Conduction Studies

Amplitude
Motor = mV; Conduction F wave Latency
Sensory = µV Latency (ms) Velocity (m/s) (ms)
Nerve Stimulation Recording
Stimulated Site Site RT LT NL RT LT NL RT LT NL RT LT NL
Median (m) Wrist APB 10.2 ≥4 3.6 ≤4.4 28 ≤31
Antecubital APB 10.1 8.2 56 ≥49
fossa
Ulnar (m) Wrist ADM 12.6 ≥6 2.9 ≤3.3 31 ≤32
Below elbow ADM 12.2 6.9 58 ≥49
Above elbow ADM 12.1 8.4 62 ≥49
Median (s) Wrist Index finger 28 ≥20 3.2 ≤3.5 53 ≥50
Ulnar (s) Wrist Little finger 24 ≥17 2.8 ≤3.1 51 ≥50
Tibial (m) Ankle AHB 6.2 ≥4 5.2 ≤5.8
Popliteal fossa AHB 5.6 12.6 46 ≥41
Sural (s) Calf Posterior 9 ≥6 3.9 ≤4.4 47 ≥40
ankle
Short exercise test:
Ulnar (m) Wrist ADM Immediate drop in baseline CMAP amplitude by 50% on first trial of exercise,
which recovers over 2 minutes. Next trial produces similar results. Third and
fourth trials produce no drop in CMAP amplitude after short exercise.
m = motor study; s = sensory study; RT = right; LT = left; NL = normal; APB = abductor pollicis brevis; ADM = abductor digiti minimi; AHB = abductor
hallucis brevis; CMAP = compound muscle action potential.
Note: All sensory latencies are peak latencies. All sensory conduction velocities are calculated using onset latencies. The reported F wave latency
represents the minimum F wave latency.
CASE 36–1. Electromyography Needle Examination

Spontaneous Activity Voluntary Motor Unit Action Potentials
Configuration
Insertional Fibrillation
Muscle Activity Potentials Fasciculations Activation Recruitment Duration Amplitude Polyphasia
Right first dorsal Myo 0 0 NL Early −1 −1 +1
interosseous
Right abductor pollicis Myo 0 0 NL Early −1 −1 +1
brevis
Right extensor Myo 0 0 NL NL NL NL NL
digitorum communis
Right biceps brachii NL 0 0 NL NL NL NL NL
Right medial deltoid NL 0 0 NL NL NL NL NL
Right C7 paraspinal NL 0 0 NL NL NL NL NL
Right C8 paraspinal NL 0 0 NL NL NL NL NL
Right tibialis anterior Myo 0 0 NL Early −1 −1 NL
Right medial NL 0 0 NL NL NL NL NL
gastrocnemius
Right vastus lateralis NL 0 0 NL NL NL NL NL
Muscle cooling to 20°C: No effect on needle EMG.
Myo = myotonic discharges; NL = normal.
features of distal weakness, myotonia, and extramuscular symptoms. A paternal aunt and several first cousins had
manifestations including cataracts. Family history is similar symptoms.
notable for maternal diabetes and cataracts. The CK level On examination, her mental status was unremarkable.
is mildly elevated. Before proceeding to electrodiagnostic On cranial nerve examination, the face was notable for
testing, the possibility of a dystrophic myotonic muscle fairly prominent masseter muscles. There was no bulbo-
disorder (the most likely diagnosis being DM1, given the facial weakness or ptosis. Forceful eye closure produced
distal weakness) should be considered. a lid lag. The muscles were very well developed through-
On nerve conduction studies, the right median, ulnar, out, especially in the proximal arms, thighs, and calves,
and tibial motor and F response studies reveal normal with good muscle strength in the neck and upper and
CMAP amplitudes, distal motor latencies, and conduc- lower extremities bilaterally. Marked percussion and
tion velocities. The right median, ulnar, and sural sensory hand grip myotonia were apparent but diminished after
studies are normal, which is expected given the normal a few contractions. Deep tendon reflexes were normal
sensation on clinical examination. The short exercise test, throughout, with flexor plantar responses. Sensation and
stimulating the wrist and recording from ADM, shows a coordination were normal throughout.
drop in the CMAP amplitude immediately after exercise Laboratory study findings were notable for a normal
that recovers after 2 minutes. After the third trial of CK level, electrolyte levels, and thyroid function studies.
short exercise, the immediate drop in amplitude is no
Summary
longer noted. This pattern is different from paramyotonia
congenita, in which the drop in CMAP amplitude may The history is that of a woman who presents with gen-
persist but recovers slowly over 1 hour, especially in a eralized muscle stiffness exacerbated by cold and
cooled muscle. relieved with repeated muscle contractions, dating back
On needle EMG study, myotonic discharges are noted to early childhood. The neurologic examination reveals
in the right distal hand, extensor forearm, and tibialis no weakness, but eyelid, percussion, and grip myotonia
anterior muscles but not in the more proximal and par- and well-developed musculature are obvious. There is
aspinal muscles. MUAPs in distal muscles are brief in a strong family history of similarly affected family
duration and low in amplitude, with an early recruitment members, with an autosomal dominant pattern of inher-
pattern. These findings are characteristic of a dystrophic itance. In summary, there is evidence of myotonia and
myotonic muscle disorder. No effect of muscle cooling is large muscles in the absence of weakness or extramus-
seen. We now are ready to formulate our electrophysio- cular manifestations. Therefore, before proceeding to
logic impression. electrodiagnostic testing, the possibility of a myotonic
muscle disorder without dystrophic changes should be
IMPRESSION: The electrophysiologic findings are considered.
consistent with a myopathy with myotonic features and On nerve conduction studies, the left median, ulnar,
a distal predominance, as seen in myotonic dystrophy and tibial motor and F response studies reveal normal
type 1. CMAP amplitudes, distal motor latencies, and conduc-
tion velocities. The left median, ulnar, and sural sensory
studies are normal, which is expected given the clinical
The history, physical examination, and laboratory
examination. The short exercise test, stimulating the
studies are consistent with myotonic dystrophy. The elec-
wrist and recording from ADM, shows a drop in the
trodiagnostic studies show the presence of myotonic dis-
CMAP amplitude immediately after exercise that recov-
charges with a distal predominance, in the context of
ers after 1 to 2 minutes. This pattern is seen in myotonic
myopathic MUAPs and early recruitment, consistent
dystrophy and myotonia congenita, although some cases
with DM1. This patient was seen in consultation with an
of recessive myotonia congenita may show a delay in
ophthalmologist, who confirmed the presence of poste-
recovery that becomes progressive over time. In para-
rior subcapsular cataracts. DNA testing confirmed the
myotonia congenita, the drop in amplitude recovers
presence of an abnormal expansion of the CTG repeat
slowly over an hour, especially in a cooled muscle.
in the DMPK gene on chromosome 19q in the patient,
On needle EMG, myotonic discharges are noted dif-
his sister, and his mother. The repeat expansion was
fusely in the proximal and distal muscles of the left upper
slightly larger in the patient than in his mother, likely
and lower extremities, including paraspinal muscles.
accounting for the earlier onset and greater severity of
MUAPs are normal throughout, and recruitment pattern
symptoms.
is normal. Muscle cooling to 20°C has no appreciable
effect on the needle examination. We now are ready to
Case 36–2 formulate our electrophysiologic impression.
A 35-year-old woman was referred for generalized muscle IMPRESSION: The electrophysiologic findings are
stiffness first noted around age 5 years. The stiffness was consistent with a myotonic muscle disorder with no
worse after rest or in the cold and improved with activity evidence of dystrophic features. The response on the
such as after walking a few steps. Family history was short exercise test and lack of effect of muscle cooling
notable for her father and one brother having similar are consistent with myotonia congenita.

Amplitude
fossa
Ulnar (m) Wrist ADM 11.3 ≥6 2.6 ≤3.3 31 ≤32
Sural (s) Calf Posterior 14 ≥6 3.6 ≤4.4 48 ≥40
ankle
Ulnar (m) Wrist ADM Immediate drop in CMAP amplitude by 40% on first trial of exercise, which
recovers over 2 minutes. After several trials, the CMAP drop is no longer seen.
CASE 36–2. Electromyography

Configuration
Left first dorsal Myo 0 0 NL NL NL NL NL
interosseous
Left abductor Myo 0 0 NL NL NL NL NL
pollicis brevis
Left pronator teres Myo 0 0 NL NL NL NL NL
Left extensor indicis Myo 0 0 NL NL NL NL NL
proprius
Left biceps brachii Myo 0 0 NL NL NL NL NL
Left medial deltoid Myo 0 0 NL NL NL NL NL
Left C7 paraspinal Myo 0 0 NL NL NL NL NL
Left tibialis anterior Myo 0 0 NL NL NL NL NL
Left medial Myo 0 0 NL NL NL NL NL
gastrocnemius
Left vastus lateralis Myo 0 0 NL NL NL NL NL
The history, physical examination, and laboratory similar symptoms. A paternal aunt, grandfather, and
studies are consistent with myotonia congenita. The elec- several first cousins had similar symptoms.
trodiagnostic studies show the presence of myotonic On examination, his mental status was unremarkable.
discharges, which are widespread and easily elicited On cranial nerve examination, there was no bulbofacial
throughout. No myopathic MUAPs suggesting a dys- weakness or ptosis. There was normal muscle strength in
trophic process are noted. There is no effect of muscle the neck and upper and lower extremities bilaterally.
cooling. Therefore, the electrophysiologic findings are Percussion myotonia was noted over the thenar muscles.
consistent with a myotonic muscle disorder without Deep tendon reflexes were normal throughout with
dystrophic changes, suggesting a diagnosis of myotonia flexor plantar responses. Sensation and coordination were
congenita. Although the clinical history may suggest para- normal throughout. There were no dysmorphic facial
myotonia congenita, the lack of effect of muscle cooling features or unusual physical features.
would rule against this diagnosis in favor of myotonia Laboratory studies were notable for a normal CK level,
congenita. In addition, the fact that the patient’s stiffness electrolyte levels, and thyroid function studies. However,
improves rather than worsens with repeated contractions the potassium level had been noted to be slightly elevated
favors the diagnosis of myotonia congenita over paramyo- during episodes of weakness.
tonia congenita.
Summary
Case 36–3 The history is that of a young man who presents with
episodic weakness dating back to early childhood, lasting
minutes to hours, exacerbated by cold, and noted most
A 19-year-old male was referred for recurrent episodes often on waking. The neurologic examination reveals no
of weakness that began in childhood. The episodic weak- weakness, but there is percussion myotonia. There is a
ness usually was noted on waking in the morning and strong family history of similarly affected individuals,
lasted minutes to hours, affecting proximal and distal with an autosomal dominant pattern of inheritance. In
muscles of the upper and lower extremities but never summary, there is evidence of episodic weakness and
affecting respiration. Episodes of weakness often were myotonia in a young male, with no evidence of fixed
accompanied by pain in his legs. Family history was weakness or extramuscular manifestations. Therefore,
notable for his father, one brother, and one sister having before proceeding to electrodiagnostic testing, the

Amplitude
fossa
Ulnar (m) Wrist ADM 10.6 ≥6 2.8 ≤3.3 31 ≤32
Sural (s) Calf Posterior ankle 12 ≥6 3.8 ≤4.4 46 ≥40
Ulnar (m) Wrist ADM No drop of CMAP amplitude after short exercise.
Prolonged exercise test:
Ulnar (m) Wrist ADM Immediate increment of CMAP amplitude by 20%. Subsequent drop of CMAP
amplitude by 55% with lowest CMAP at 40 minutes. Recovery to baseline at
60 minutes.
CASE 36–3. Electromyography

Configuration
Right first dorsal NL 0 0 NL NL NL NL NL
interosseous
Right extensor Myo 0 0 NL NL NL NL NL
digitorum
communis
Right biceps brachii Myo 0 0 NL NL NL NL NL
Right medial deltoid Myo 0 0 NL NL NL NL NL
Right triceps Myo 0 0 NL NL NL NL NL
Right C7 paraspinal Myo 0 0 NL NL NL NL NL
Right tibialis anterior Myo 0 0 NL NL NL NL NL
Right medial Myo 0 0 NL NL NL NL NL
gastrocnemius
Right vastus lateralis NL 0 0 NL NL NL NL NL
possibility of an inherited periodic paralysis syndrome paralysis. The electrodiagnostic studies show the pres-
should be considered. ence of myotonic discharges in distal and proximal
Nerve conduction studies were carried out during an muscles, with normal MUAPs, consistent with a myo
attack-free interval. The right median, ulnar, and tibial tonic muscle disorder without dystrophic changes. In
motor and F response studies reveal normal CMAP addition, the prolonged exercise test shows a character-
amplitudes, distal motor latencies, and conduction veloc- istic decline in CMAP amplitude over time. Although the
ities. The median, ulnar, and sural sensory studies are prolonged exercise test does not distinguish hypokalemic
normal, which is expected given the normal sensory from hyperkalemic periodic paralysis, the presence of
examination. The short exercise test, stimulating the myotonia points toward hyperkalemic periodic paralysis,
wrist and recording from ADM, is normal. The prolonged as myotonia is not seen in the hypokalemic form of peri-
exercise test, stimulating the wrist and recording from odic paralysis. Although the periodic weakness and
ADM, shows an initial increment in CMAP amplitude abnormal prolonged exercise test also might suggest
of 20%, followed by a 55% drop in CMAP amplitude Andersen–Tawil syndrome, myotonia is not a feature of
that reached a nadir after 40 minutes and recovered to this syndrome, and there is no note made of the charac-
baseline after approximately 1 hour. teristic facial features seen in this syndrome, nor of any
On needle EMG study, myotonic discharges are noted abnormality on electrocardiogram in the patient or
in distal and proximal muscles of the upper and lower affected family members. Although periodic weakness
extremities. The MUAPs are normal throughout, and may also be seen in paramyotonia congenita, the lack of
recruitment pattern is normal. Muscle cooling to 20°C effect of muscle cooling, the normal short exercise test,
has no appreciable effect on the needle examination. and the abnormal prolonged exercise test rule against this
We now are ready to formulate our electrophysiologic diagnosis in favor of hyperkalemic periodic paralysis.
impression.
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IMPRESSION: The electrophysiologic findings are
consistent with a myotonic muscle disorder with no Aminoff, M.J., Layzer, R.B., Satya-Murti, S., et al., 1977.
evidence of dystrophic features. The drop in amplitude The declining electrical response of muscle to repetitive
nerve stimulation in myotonia. Neurology 27, 812.
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Arsenault, M.E., Prévost, C., Lescault, A., et al., 2006.
discharges noted on needle EMG are compatible with Clinical characteristics of myotonic dystrophy type 1
a diagnosis of hyperkalemic periodic paralysis. patients with small CTG expansions. Neurology 66,
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The history, neurologic examination, and laboratory Brooke, M.H., 1986. A clinician’s view of neuromuscular
findings are consistent with hyperkalemic periodic disease. Williams & Wilkins, Baltimore.
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Myotonic Muscle Disorders and Periodic Paralysis Syndromes

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Myotonic Muscle Disorders and Periodic Paralysis Syndromes

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SECTION VI • Clinical–Electrophysiologic Correlations

PART V • Disorders of Neuromuscular Junction and Muscle

Myotonic Muscle Disorders and

©2013 Elsevier Inc

Box 36–1. Classification of Myotonic and Periodic Paralysis Disorders

FIGURE 36–2 Short exercise test in the myotonic syndromes. 39%

1. Routine motor and sensory nerve conduction studies

The electrodiagnosis of myotonia congenita is based on Sodium Channel Myotonia Congenita

12 Baseline 3. Muscle cooling has no appreciable effect on the

MUAPs, the next step is exercise testing.

Attacks are provoked by cold, carbohydrate ingestion, Andersen–Tawil Syndrome

physical features, dwarfism, and stiffness accompanied by

OTHER CONDITIONS ASSOCIATED

CASE 36–1. Nerve Conduction Studies

CASE 36–1. Electromyography Needle Examination

CASE 36–2. Nerve Conduction Studies

CASE 36–2. Electromyography

CASE 36–3. Nerve Conduction Studies

CASE 36–3. Electromyography

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