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Neurology

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Question
Answer
ALS: Dx   UMN & LMN sx in 3 regions; UMN: clinical; LMN: EMG; CK nml or high  
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ALS Tx   Riluzole; cough assist device, chest PT, BiPAP; PEG feeding tube;  
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PLS: path   degeneration of lateral corticospinal tract  
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PLS clin findings   usu legs before arms; leg weak/stiff; spasticity; ave duration >8 yrs; many pts develop LMN sx & transition to ALS  
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PLS: dx   EMG, MRI (br & spcord), LP, evoked potls; B12, Lyme, RPR, long chain fatty acids  
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PMA   pure LMN dz; slower progress than ALS; often spares bulbar mx; CK very high  
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Kennedy dz   X-linked rec, TNR; mutation in androgen receptor; sx onset (wide age range); facial fasciculations, weakness mouth/tongue; dysphagia, limb weakness; gynecomastia, DM, oligospermia  
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Disorders of neuromuscular transmission (NMJ):   MG (most common), LEMS, botulism  
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MG: pathology   Acquired autoimmune: Ach receptor insufficiency & Abs to Ach receptor protein; possibly also thymus hyperplasia  
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MG S/S   Insidious; fluctuating mx weakness (worse w/reps); asymmetric ptosis; tired face, difficulty chewing/swallowing; SOB. Normal DTRs. F 20-30 yo, M 70-80  
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MG Dx   Tensilon test (or neostigmine); Ach receptor & MuSK Abs; Repetitive nerve stim; Single fiber EMG; CT Chest to exclude thymoma  
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MG Tx   Symptomatic (Cholinesterase inhibitors, eg pyridostigmine & neostigmine); Firstline: steroids (alt immunosupp: CellCept, Cyclosporine); thymectomy  
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MG exacerbations   d/t infxn, PG, meds; may worsen resp sx; tx w/ plasmapheresis or IVIg, supportive respiratory care  
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MG: drugs to avoid   NM blockers; quinine; macrolides, FQ; botox; beta/CCB; IV contrast  
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LEMS   usu paraneoplastic (autoimm rare); proximal weakness / autonomic sx (dry mouth); hypo/absent reflexes; voltage gated Ca channel Abs; facilitation w/ RNS  
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Botulism MOA   irreversible blockade of Ach release  
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Botulism S/S   Diplopia, ptosis, dilated pupils; facial / resp weakness; descending paralysis; Autonomic dysfunction  
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Botulism Tx   supportive; horse serum antitoxin? (months to recover)  
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MD classified by:   distribution, inheritance and clinical features  
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MD: labs/studies   ultrastructural protein abnormalities; mx bx: mx fiber necrosis  
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Duchenne   onset at 3-5 yrs; calf pseudohypertrophy; loss of ambulation by teens; cardiomyopathy; death in 20s  
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Duchenne/Becker: Dx   Mx bx; genetic testing (need complete sequencing); CK sometimes >10,000; FH  
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Duchenne/Becker Tx   Prednisone (age 5) for Duchenne; Supportive (orthotics, resp, cardiac, PT/OT); cardiac TP in Becker  
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FSHD   auto dominant; asymmetric; eye or mouth closure weakness: may sleep w/ eyes open; pectoral & biceps/triceps atrophy (but normal deltoid); also scap winging; no fx on life exp; orthotics & counseling  
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FSHD Dx   genetic testing (95%); FH; mx bx rarely helpful  
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Emery Dreifuss   Humeroperoneal / scapuloperoneal weakness w/ early contractures (ankle neck elbow); teen onset (very thin); scap winging/deltoid sparing; x linked or auto dom; cardiac conduction block/arrhythmia (need pacemaker)  
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Most common MD’s   Duchenne/Becker; myotonic; FSHD  
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Myotonic dystrophy   auto dom; any age; TNR  
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Myotonic dystrophy S/S   tenting upper lip; distal weakness; frontal bald; cataracts; conduction block; DM, infertile; cognitive impairment; percussion myotonia  
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MG tx: pyridostigmine dose   15-90 mg Q6h and 180 mg of long acting version HS  
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MG tx: neostigmine dose   15 mg before excessive physical activity  
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Young kid with difficulty standing from seated position. Calf muscle wasting   Muscular dystrophy (weakness begins at pelvic girdle)  
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fluctuating weakness/fatigability of voluntary mx (diplopia, blurry vision, ptosis, difficulty swallowing); resp difficulty, limb weakness (worsened w/activity); bulbar sxs (dysarthria, dysphagia, fatigable chewing)   Myasthenia gravis  
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MG pathophys   Abs vs acetylcholine receptors  
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LEMS pathophys:   defective release of Ach in response to nerve impulse; may be assoc with small cell ca  
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MG vs LEMS: S/S   LEMS: power increases w/sustained contraction; MG: fatigability  
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Kennedy dz genetics   X-linked rec, TNR; mutation in androgen receptor  
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Kennedy dz S/S   facial fasciculations, weakness mouth/tongue; dysphagia, limb weakness; gynecomastia, DM, oligospermia  
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Disorders of neuromx transmission (NMJ):   MG, LEMS, botulism  
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MG: pathophys   Acquired autoimmune: Ach receptor insufficiency  
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MG S/S   fluctuating mx weakness (worse w/reps); asymmetric ptosis; tired face, difficulty chewing/swallowing; SOB  
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LEMS S/S   usu paraneoplastic (autoimm rare); proximal weakness / autonomic sx (dry mouth); hypo/absent reflexes; voltage gated Ca channel Abs; facilitation w/ RNS  
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Botulism MOA   irreversible blockade of Ach release  
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Duchenne MD   onset at 3-5 yrs; calf pseudohypertrophy; loss of ambulation by teens; cardiomyopathy; death in 20s  
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Emery Dreifuss   Humeroperoneal / scapuloperoneal weakness w/ early contractures (ankle neck elbow); teen onset (very thin); scap winging/deltoid sparing; x linked or auto dom; cardiac conduction block/arrhythmia (need pacemaker)  
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Most common MD’s   Duchenne/Becker; myotonic; Facioscapulohumeral dystrophy  
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Myotonic dystrophy   auto dom; any age; TNR  
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Myotonic dystrophy S/S   tenting upper lip; distal weakness; frontal bald; cataracts; conduction block; DM, infertile; cognitive impairment; percussion myotonia  
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