Terms

Neuropathy Muscle Biopsy

Definitions
Chronic, takes time to produce -Atrophy -Fiber Type Grouping -Target Fibers

Myopathy Muscle Biopsy

-Atrophy -Degeneration of fibers -Increased endomysial connective tissue -Increased internal nuclei -Lots of inflammation -Variation in fiber size

Werdnig-Hoffman Disease

Infantile Spinal Muscular Atrophy -early onset, detected in utero (dec fetal activity) - floppy infant, poor control - Resp Distress (bulbar weakness, intercostal mm involvement) - Death

Intermediate Spinal Muscular Atrophy

-symmetrical prox weakness -Fasciculations, tongue atrophy, contractures, scoliosis - may survive into early adult, depends on resp involv - Tx= aggressive resp care, prevent deformities, PT, scoliosis bracing

Kugelberg-Welander Disease

Mild Spinal Muscular Atrophy - Prox mm weakness= waddling/lordotic gait with resembles musc dystrophy - minn resp involvement -good prognosis -Tx= promote ambulation

ALS

Clinical= asymm weakness and atrophy in arms/legs Lab= Normal sensory exam; EMG= denervation (fibrillations), fasiculations, large amplitude motor units ("Giant Motor Units"), CPK= WNL/mild elevation

Myasthenia Gravis

-Fatigable weakness, diplopia, ptosis, bulbar s/s, extremities, normal DTR -will have ACh recept AB's -Tensilon (Edrophonium) Test= positive, reduce mm weakness

by blocking ACh-esterase -EMG= response is high at 1st then will bottom out -Tx= Pyridostigmine (anticholinesterases), Corticosteroids and Immunosuppresion are mainstays, may have to do thymectomy Eaton-Lamber Syndrome - presynaptic disorder with a defect in Ach release -70% assoc with Oat Cell CA - Proximal weakness, increases with movement -decreased DTR's, increase with movement EMG= low amp resp, increasing with repetition Botulism C. botulini -toxin binds to nerve endings and decreases NM transmission -Adult= opthalmoplegia, bulbar diff, descending paralysis -PEDs= constipation, lethargy, hypotonia, weakness Polymyositis -Homogeneous, high CA, little CVD assoc, more severe -Females, 5-15/45-55 - most common is Hip weakness, muscle pain, shoulder weakness -Dx= Prox mm weak, increased CPK, mm pain on grasping or spontaneously (main ones) -Inc CPK -Biopsy= perivascular infil, interstitial fibrosis -Tx= corticosteriods Dermatomyositis - Heterogeneous, small CA, CVD, Mild -Females, 5-15/45-55 - most common is Hip weakness, muscle pain, shoulder weakness -Dx= Heliotrope rash, Prox mm weak, increased CPK, mm pain on grasping or spontaneously (main ones) -Inc CPK - Biopsy= perivascular infiltration, interstitial fibrosis, perifascicular atrophy -Tx= corticosteroids Inclusion Body Myositis >30, longer than 6mo - weakness of prox and distal UE/LE -finger/wrist flexors, quads -CPK < 12x norm - EMG= inflamm changes

-Biopsy= inflamm, vacuolated mm fibers -Tx= resistant to most Steroid Myopathy - features of cushings, Corticosteroid use - weakness begins in pelivfemoral mm's, progress to trunk, neck arms -CPK and EMG WNL Acute Hypokalemic Myopathy K<3.5= weakness, fatigue, myalgia K<2.5= moderate prox mm weakness, CPK inc K<2= prox limb weakness, mm pain Tx= improve soon after K Duchenne's Muscular Dystrophy - Sex Linked Recessive, short arm of chrom X (dystrophin) -delayed motor milestones, clumsiness, progressive weakness, mild mental retardation, cardiac -begins in pelicofemoral mm, shoulder girdle, distal/intercostals -wheelchair age 10, death by 20 -Gower Sign -CPK is massive elevated 1000 x norm, as mm mass falls so does CPK - Biopsy= interstit inflamm, adipose, fibrosis Myotonic Dystrophy Autosomal Dom, 20-25 onset - weakness distal UE/LE, bulbar, "hatchet faces" (temporalis atrophy) - Involve SM of all systems as well -increase in internal nuclei, ring fibers Myotonia Congenita Autosomal dom or reces - mm hypertrophy, no weakness, no systemic Facioscapulohumeral Dystrophy Autosomal dom -onset 5-20, facial weak, difficult with eye closure, scapular winging - "Popeye arm" (weak bicep/tricep, forearm spared), ant tib weakness -CPK= 2-3x norm Cerebellar Astrocytoma -PEDs - Cyst with mural nodule

-90% can have disease free survival -periphery of cerebellum, ipsilateral ataxia Brainstem Glioma -slow growing, infiltrative -Present as CN palsy followed by long tract signs - resistant to Chemo/XRT, removal is impossible Colloid Cyst -Ant portion of 3rd Vent - Recumbent= foramen open= ICP WNL - Standing= foramen blocked= Inc ICP -Shunt/removal Medulloblastoma - PEDs, roof of 4th ventricle - Seed CSF - Highly radiosensitive, 60% 5yr survival -truncal ataxia Pineal Tumor -Parinaud's Syndrome= limitation of upgaze and dilated pupils -Affects Superior Colliculus and Edg Westfall Nucleus Trigeminal Neuralgia -sharp, shooting, unilateral pain in distribution of one or more branches -most common is mandibular division -compression of CN5 entry zone by vascular loop (AICA) -Tx= carbamazepine, sx Facial Nerve Paralysis UMN= contralateral paralysis of mm, forehead spared LMN= ipsilateral paralysis of all mm -usually get dual involvement with CN6, b/c the nuclei are very close Bell's Palsy -Inflammatory Reaction, Herpes Zoster -Retroaural pain, followed by sudden onset of facial weakness -Tx= prednsione, antiviral agents do not help, protect eye Ramsey Hunt Syndrome Bulbar Palsy -Herpes zoster on external ear -CN IX, X, XI, XII (lower motor palsy of 1+) -IX= dysphagia, decreased gag reflex -X,XI= dysphagia, decreased gag, dysarthria, horseness, nasal quality to voice, nasal regurgitation of liquid

-XII= atrophy/fasciculations of tongue, deviates to side of lesion -Due to= polio, motor neuron disease, myasthenia gravis Pseudobulbar Palsy -UMN paralysis of bulbar mm -hyperactive gag, dysphagia, spastic dysarthria, reduced volitional activity, normal spontaneous and emotional activity, pathologic laughter and crying -Due to= stroke, ALS Cerebellopontine Angle Syndrome Wallenberg's Syndrome -Acoustic neuroma, meningioma -Affect CN 5,7,8, cerebellum -Lateral Medullary Syndrome -In the territory of PICA, must commonly due to Vert Art -Lateral Spinothalamic Tract= contralateral pain/temp loss over trunk/extremities -Nucleus Ambiguous= paralysis of pharynx and larynx, dec gag, dysarthria, dysphagia -Nucleus and Tract of 5= ipsilateral pain/temp loss on face -Dorsal Spinocerebellar Tract= ipsilateral cerebellar ataxia -CN VIII= nystagmus, hearing loss, fall to ipsilateral side, dizziness -Horner's Inferior Alternating Hemiplegia -XII = deviation of tongue to ipsilateral -Corticospinal Tract= contralateral paresis -Medial Lemniscus Pathway (posterior columns run to)= vibration, position sense (contralateral) Trigeminal Alternating Hemiplegia CN V= Ipsilateral loss of facial sens, jaw deviates to ipsilateral side Corticospinal tract= Contralateral paresis and Babinski Millard-Gubler Syndrome CN VII= paralysis of upper/lower portions of ipsilateral face CN VI= can't abduct ipsilateral eye Corticospinal= contralateral hemiparesis Acoustic Neuroma CN VIII= ipsilateral hearing loss CN VII= ipsilateral facial weakness CN V= decreased corneal reflex, ipsilateral masseter atrophy Cerebellum= gait ataxia