Neuromuscular Flashcards

Question

Hypokalemia PP, hyperkalemic PP

Answer 1

Hyperkalemic PP - SCN4A - AD -trigger: rest after exercise, fasting Tx: snack, thiazide diuretic as maintenance Hypokalemia - AD - CACNA1S most common type 1 or SCN4A (type 2) -triggers: meals/carbs, during exercise. Tx: K sparing diuretics -can provoke with giving glucose Tx: carbonic anhydride inhibitors Andersen-Tawil - KCNJ2 mutation

Answer 2

CK normal, EMG nonspecific -histo: atrophy type II fibers

Answer 3

type 1 fibers - slow oxidative, - slow ATPase, large oxidative capacity -red, small 2 - fast oxidative-glycolytic -fast ATPase, large glycolytic capacity, moderate oxidative capacity, fatigue resistant -red, large 2b - fast oxidative-glycolytic fibers -low oxidative capacity, fatigable -pale, large Type I - myotonic muscular dystrophy, nemaline, centronuclear myopathies Type II - steroid induced myopathy

Answer 4

1. Progressive infantile 2. Severe X-L neonatal - myotubular myopathy most common - 3. Adult-onset Hypotonia + *ptosis , ocular palsy, bulbar weakness*; can get resp failure -CK mild elevation EMG: myopathic pattern with sharp waves and fibrillations Path: central nucleation, predominance type I fibers which are small and hypotropic Vs muscular dystrophy: normal CK, no CNS involvement X-linked myotubular myopathy -MTM1 gene dynamin 2 (DNM2), bridging integrator 1 (amphiphysin 2) (BIN1) mutations

Answer 5

In bimodal distribution, early peak, more common in women and present earlier vs men Not associated with HLA B27 Thyroid problems - lymphoid follicular hyperplasia Edrophonium - increases ACh at NMJ - Tensilon test - transient improvement of weakness -anti-striational muscle Ab positive in thymoma -if seronegative ACh, MUSK positive in 50% Repetitive nerve stim: 10% decrease CMAP amplitude -> if seronegative and normal repetitive nerve stim, can do single fiber EMG - most sensitive but not specific - JITTER on EMG - increase jitter/increase interpotential time Myasthenic crisis: intubate if Nif< -30 or FVC <15 or downtrend of Nif/VC +clinic evidence resp compromise NO: B blockers, aminoglycosides (gentamicin etc), neuromuscular blocking agents (succinylcholine) -penicillamine - zero positive myasthenic syndrome Thymectomy: if Sx before age 60 even if no thymoma can induce remission; myasthenic Sx can worsen peri-op - pre-op IVIG/plasma exchange

Answer 6

Inhibits exocytosis of *presynaptic* vesicles of ACh

Answer 7

All: Autosomal recessive except Bethlem -may have decreased movement in utero 1. Collagenopathies - *Ullrich’s congenital muscular dystrophy-Calcanei protrusion* - type VI collagen mutation **Bethlem myopathy - Autosomal dominant type VI collagen mutation** - contractures elbow, ankles, hyperextend interphalangeal joints 2. Merosinopathies - laminin-alpha 2 related CMD -reduced merosin on muscle staining -**EOM spared** -intelligence normal 3. Dystroglycanopathies - (note dystrophin is muscular dystrophy) muscle-eye-brain disease - muscle+brain+eye eyes less affected+less cortical change vs Walker-Warburg Walker-Warburg - brain, eye, muscle dystrophy, elvated CK, cataract, corneal opacity -Fukuyama: AR, fukutin mutation ; — frontal white matter changes - weakness, ocular problems , CNS abnormalities, contractures , seizures, intellectual disability biopsy: dystrophic; reduced alpha-dystroglycan

Answer 8

AD Central clearing b/c no mitochondria -RYR1 mutation -malignant hyperthermia association Weakness, hypotonia after birth; prox weakness -facial, bulbar, ocular muscles spared CK slight elevation

Answer 9

AD late onset -dysphasia, dysarthria, ptosis, EOM involved late -French Canadian, GCG repeat expansion in poly-A binding protein 2 gene PABP2 -biopsy: fiber size variation, rimmed vacuoles, intranuclear tubular filaments -no myotonia, CK and aldolase normal

Answer 10

AR except phosphorylase b kinease deficiency McArdle - myophosphorylase deficiency Tarui - PFK deficiency Cori - glycogenosis III-debranching enzyme deficiency; liver disease weakness adult or kid Andersen - glycogen branching enzyme deficiency - hepatomegaly , cirrhosis, liver fail (Von Gierke - type 1 - G6phosphatase deficiency in liver and kidney)

Answer 11

glycolytic disorder (glycogenosis type V) *myophosphorylase gene mutation PYGM*, no glycogen to G6P ->accumulate glycogen b/c myophosphorylase deficiency AR -exercise induced weakness -second wind phenomenon after rest b/c mobilize blood glucose -physiologic muscle contractures = silent on EMG

Answer 12

glycogenolytic disorder no phosphofructokinase No G6P to G1P in muscle + RBC -jaundice - hemolysis -*gouty arthritis* (“rui” “owie “)

Answer 13

1. glycogen storage - 2. FA oxidation 3. Mitochondrial

Answer 14

POMPE-acid maltase deficiency - Tx alpha-glucosidase alpha - early resp muscle fail

Answer 15

Head movement triggers-exaggerated response to baroreceptor stim -syncope + asystole x 3 sec or fall in 50 mm Hg SBP when pressure on carotid sinus -or hypotension without bradycardia -reproduce Sx with carotid massage -CN IX innervates -Nuc solitarius Vs vasovagal: bradycardia, hypotension, triggered by neck turn

Answer 16

1. Vasovagal - inhibit vascular symathetic tone, increase vagal tone 2. Carotid sinus hypersensitivity - increase parasympathetic response, reduce sympathetic tone 3. 3rd ventricular tumor - colloid cyst - postural change then obstruct 3rd ventricle ->increase ICP

Answer 17

Severe pharynx, tongue, ear pain + hypotension + bradycardia /syncope -post traumatic or neck tumors

Answer 18

Early adult onset distal myopathies: 1. Nonaka myopathy - *AR* distal muscle weakness LEGS first, foot drop, anterior tibial muslcle weakness, onset 20s; extensor forearm muscle weak, no proximal/bulbar involvement GNE gene mutation = Nonaka GNAT (tubular filaments, rimmed vacuoles) Histo: *rimmed vacuoles* microscopy: tubular filaments like IBM 2. Miyoshi myopathy - DYSF / dysferlin gene - AR Dysferlin -transmembrane protein- Calcium-mediated sarcolemma resealing + repair -[ANO5 mutation (LGMD)-anterior compartment weak] -CK elevated, calf muscle atrophy -DISTAL myopathy vs limb/girdle biopsy: necrotic fibers + inflammation- Laing myopathy - distal, anterior tibial + neck flexors then finger extensors/shoulder/hip girdle - myosin heavy chain MYH7 Late adult onset: 3. Recessive Limb Girdle Muscular Dystrophy Type 2 - DYSF mutation LGMD2B dysferlin protein (fusion/repair) - AR -account for about a quarter of LGMD mutations -distal localization of weakness, late onset -shoulder girdle + hip + gastroc/plantar flexion weak ( no foot drop )-> difficulty walking UP stairs b/c can't plantarflex ; contractures -spares facial muscles -absent reflexes, fatty muscle replacement -significant elevation of CK -biopsy: inflammation, dystrophic; NO rimmed vacuoles -no cardiac or pulm involvement 4. Markesbery-Griggs distal myopathy - AD - ZASP gene mutation; foot drop then wrist drop; late adulthood ("marcus wallberg titin with achilles foot drop, AD") - rimmed vacuoles 5. Welander - AD - onset 40-60 yrs - weak HANDS then legs ("Weleda hand cream") -biopsy: rimmed vacuoles 6. IBM - rimmed vacuole, inflammatory invasion of fibers -NO deltoid weakness vs dermato/polymyositis -thumb flexion weakness with interossei strong

Answer 19

GI Sx side effect - muscarinic R activation -excess dosing: cholingergic crisis, worsening weakness, respiratory involvement (wet Sx N/V/diarrhea is cholinergic crisis vs MG crisis) -no CNS Sx, doesn’t cross BBB -inhibits AChesterase, no destruction

Answer 20

Orthostatic hypotension, no HR variability, anhidrosis, dry mouth, early satiety, constitution - over weeks (vs primary autonomic failure ) -Ab vs *ganglionic nicotinic ACh R* in 50% -autoimmune or paraneoplastic (SCLC) -may be triggered by illness Tx: plasma exchange, IVIG, no full recovery

Answer 21

1. Dermatomyositis -mi2 - nail prob TIF1y - cancer NXP-2 - cancer MDA-5 - ILD 2. Antisynthetase - AntiJo1 - mechanic’s hands, Raynaud 3. Immune mediated necrotizing SRP - aggressive , myocarditis , CK>10,000-**myonecrosis but no inflammation** EMG: fibs, intertional activity, positive sharps. Tx: immunosuppression HMG-CoA - cancer

Answer 22

Statin + fibrates increases risk toxicity SLCO1B mutation associate with risk of developing statin toxicity 10x CK elevation

Answer 23

including myotonic dystrophy, Emery-Dreifuss muscular dystrophy, and LGMD types 1A (myotilin); 1B (laminin); 1C (caveolin); 1E (desmin); 2C, 2D, 2E, and 2F (sarcoglycans); 2G (telethonin); and 2I (fukutin-related protein).

Answer 24

Autosomal dominant: 1A (myotilin);-Myot 1B (laminin LMNA/emerin); A/C; Emery Dryfuss - Life threatening cardiac problems, **early contractures**, *biceps and triceps weakness* -NO pseudohypertrophy of calves -start adolescence -mutation in EMD/LMNA genes (encodes lamin A/C) Cardiac conduction problems LMNA - AD; Emerin- X linked 1C (caveolin); rippling muscle disease 1E (desmin) Autosomal recessive: 2A: CapN3, calpain3-related - scapular winging, *ankle contractures*, peroneal weakness,, high CK (vs FSHMD), difficulty going up stairs 2B: Dysferlin - DYSF mutation LGMD2B dysferlin protein (fusion/repair) - AR - calf weakness, difficulty walking UP stairs -no pulm/resp involved (Myoshi related dysferlin) 2C-F - sarcoglycans gamma, alpha, beta, delta 2I fukutin-related protein=FKRP 2L- fukutin Cardiac conduction problems: 1A (myotilin); 1B (laminin); 1C (caveolin); 1E (desmin); 2C, 2D, 2E, and 2F (sarcoglycans); 2G (telethonin); and 2I -if dysphagia, use feeding tube

Answer 25

1. Norepinephrine = neurotransmitter (epi - hormone from adrenal medulla, similar action at alpha1) -activates alpha-1, Vasoconstriction, increase MAP Presynaptic alpha2 R - norepinephrine decrease presynaptic release of norepi -beta-1-increases HR B2-**bronchodilation vasodilation** Alpha1 - vasoconstriction arteries, increase peripheral arterial resistance and MAP, and increase venous return (venocontrict), mydriasis, urethral spine contraction, urinary retention Beta1 - sinus node - cardiac contractility, vasoconstriction Beta2 - bronchial smooth muscle, blood vessels Sketchy: Alpha coupled Q - QISS - alpha1, alpha2, beta1, beta 2 - coupled go Gq, Gi, Gs, Gs receptors 2. ACh - M1-R on autonomic ganglia - decrease expresan release norepi, ACh M2-sinus node - REDUCE HR M3-salivary -(SNS) increase secretions, bronchodilation

Answer 26

Rash: puffy eyelids, diplopia, dysphasia, strabismus, myalgias, proximal weakness High eosinophils Muscle biopsy: trichinella spiralis parasite (pork with larvae), survive in muscle as calcified cysts GI Sx then 1 month later fever, myalgia, fatigue, *EOM weakness* Dx: ELIZA for trichinella, muscle biopsy, *eosinophilia* Tx: thiabendazole, steroids Vs HIV, Lyme ->neuropathy. Leptospirosis - affects muscle + other organs (thin coil bacteria)

Answer 27

1. Nemaline - severe neonatal congenital to adult onset - AD or AR (not XL vs centronuclear) -*respiratory dysfunction, cardiac dysfunction * Neonate: *dysmorphic features* Various muscle protein mutations -histo: fibers - sarcoplasmic rods beneath sarcolemma = nemaline bodies/rods; type 1 fibers small 2. Central Core (RYR) 3. Centronuclear -Progressive infantile -Severe X-L neonatal - myotubular myopathy most common - -Adult-onset Hypotonia + *ptosis , ocular palsy, bulbar weakness*; can get resp failure -CK mild elevation Path: central nucleation, predominance type I fibers which are small and hypotropic

Answer 28

Normal: transient decrease BP then increase HR - -tilt table-> *SBP decrease 5-15, 5-10 increase DBP, 10-15 bpm increase HR* *Late hypotension -Neurocardiogenic* hypotension delayed then happens with bradycardia Early hypotension - insufficient sympathetic tone and baroreceptor problems Hypotension + tachycardia = hypovolemia Sudor motor function: -qualitative - sudomotor thermoregulatory sweat test TST - look for patterns of hypo/ anhidrosis -global hypohidrosis: MSA, pure autonomic failure, autonomic neuropathy -distal hypohydrosis: large, small fiber neuropathies -quantitative: sudomotor axon reflex test, **sympathetic post ganglionic axon** - sweat cell applied to skin, give current, ACh stimulates sweat glands, sweat production measure from adjacent sweat glands - if low response, lesion of postganglionic sympathetic axon -test small fiber neuropathy

Answer 29

Type II glycogenosis - Acid Maltese (alpha-1, 4 glucosidase) deficiency, no glycogen to glucose; glycogen accumulation AR -biopsy: *vacuolated sarcoplasm* with glycogen accumulation, stains with acid phosphatase Pompe - infantile - 1st months life - macroglossia, cardiomegaly, hypotonia, die after months Childhood: 2nd yr - motor delay, large calves, MR, **pulm problems**, rare cardiac prob Adult: slow progressive proximal weakness *respiratory weak*, no MR, no cardiomegaly, no hepatolomegaly -enzyme replacement therapy: alpha glucosidase

Answer 30

Present at birth or childhood/adult Facial diparesis, ptosis, ophthalmoparesis in infancy, limb weak ACH R deficiency - most common - AR or sporadic Vs *acetylcholinesterase deficiency *- *delayed pupillary response* - axial + resp weak in infancy - do NOT response to ACHE inhibitors (Edrophonium does not improve) Edrophonium - transient improves Sx No immunosuppressant or thymectomy EMG: decrement on repetitive nerve stim, jitter on single fiber Vs transient myasthenic Sx - if mom has MG - improve within 2 weeks

Answer 31

all preganglionic: ACh -nicotinic R at ganglia SNS: short preganglionic neurons, ganglion in interomediallateral column *T1-L2*->preganglionic white rami synapse on paravertebral ganglia-(release ACh) - T1-L2 superior cervical, mid cervical, stellate, celiac ganglion, superior/inf mesenteric ganglia postganglionic fibers = gray rami-carry through spinal nerves -> long post-synpatic, release norepi or Ach if sweat-M3 PNA: cranial (III, V, IX, X CN) and sacral portion (S2-S4) long presyn, short post-synaptic ganglion, release ACh - ganglia close to target site M2-sinus node - REDUCE HR

Answer 32

superior cervical ganglia then post-synaptic ganglia travel along common carotid A -ICA: sphincter pupillae - (dilation) - anisocoria more prominent in dim light -can still constrict to light and accommodation b/c parasympathetic intact Muller's smooth muscle/superior tarsal muscle apparent enophthalmos - eye appear sunken, no lid retractors *NO anhidrosis vs apical lung mass/Pancoast tumor* ECA - fibers for sweat glands of face

Answer 33

detrusor muscle contracts, urethral sphincter unrelaxed

Answer 34

1. voluntary micturition ->detrusor reflex (PNS)->external sphincter relax(SNS), detrusor contracts against relaxed internal sphinter (SNS) -if external sphincter contracted->detrusor relaxes automatically Voluntary contraction external urethral sphincter - L1-L2 ; bladder innervation by sympathetics L1-L2 Detrusor - paraympathetic nervous system -**pontine micturition center controls detrusor reflex** S2-S4-nerve roots relay afferent sensory info to GU, bladder, anorectal *Onuf-S2-S4-urethral and anal sphincters*

Answer 35

1. paracentral lobule (medial continuation precentral gyrus in frontal lobe) - NPH, tumor - no voluntary control external urethral sphincter = no voluntary suppression of detrusor reflex 2. Lesions above conus: flaccid bladder+ urinary retention /overflow ->over time then hyperreflexive, *overactive detrusor contraction - urge incontinence* -MS lesions 3. Cauda equina -* loss detrusor tone*>flaccid bladder, can't sense fullness->*overflow incontinence* -intermittent cath 4. detrusor sphincter dyssynergia- neurogenic detrusor overactivity- detrusor muscle contracts against unrelaxed urethral sphincter - SC disorders

Answer 36

myenteric/Auerbach plexus-btw innter+outer smooth muscle GI tract - motility + submucous/Meissner's plexus - secretory Hirschsprung - segments with no myenteric plexus, cannot relax ->constipation -some due to RET mutations

Answer 37

AD or AR, weakness distal LE>UE +/- cardiomyopathy, neuropathy hyporeflexia, myotilin mutation, desmin/alpha-crystallin path: focal dissolution of myofibril and subsarcolemma accumulation granular, filamentous material,* rimmed vacuoles*, central nucleation disintegration of the Z-disk, accumulation of myofibrillar degradation products, and -ectopic expression -desmin, αB-crystallin, dystrophin, congophilic material

Answer 38

ClCn1 AD - Thomsen AR - Becker (just like Becker muscular dystrophy is XLR) - beta recessive

Answer 39

polyneuropathy: low SNAPS, low CMAPs - axonal degeneration. Need EMG: neurogenic changes myopathy: normal SNAPs, low amp CMAPs -myopathy +/- polyneuropathy , myopathy improves first b/c muscle regeneration faster than nerve -flaccid weakness, limb+diaphragm -myosin loss -risk factors: SIRS associated, steroids, neuromuscular blocking agents, hyperglycemia, sepsis

Answer 40

abdominal binder-shunts blood from splanchnic mesenteric circulation -fludrocortisone-expands plasma volume midodrine, -pyridostigmine droxidopa: converts to norepi

Answer 41

CV = distance / latency (time) CV >50 in arms, >40 in legs -hereditary demyelinating - slow CV, **no conduction block or temp dispersion** acquired demyelinating slow CV, + conduction block + temp dispersion SNAPs -normal in radiculopathy b/c record postsynaptic (Dx on EMG) and damage is presynaptic despite sensory Sx CMAP CV - difference in onset latencies btw two stim sites vs SNAP [subtracts out time to NMJ and triggered muscle AP] conduction block: decrease CMAP BTW *prox and distal stim sites* F wave, H reflex - late responses F wave - supramax stim antidromic along motor axon then orthodromic to record at muscle H reflex - S1 ankle reflex arc - stim tibial N -orthodromic -to go spinal cord

Answer 42

insertional activity -needle insertion - increased in myotonia, denervation -decreased if dystrophic and during episodes of periodic paralysis Spontaneous: muscle at rest - fibs, fasics, myokymia, myotonic potentials - all abnormal voluntary movement - MUPs- 1. axonal loss: reduced recruitment = few MUPs firing more rapidly -denervation/renervation (prox to distal) - longer and bigger, polyphasic (axon loss, denervation, fibrillations, decreased recruitment, then large MUPs when reinnervation) 2. myopathic: short small MUPs, polyphasic 3. poor effort/CNS disordres causing weakness - recuirtment reduced, normal MUPs firing slow

Answer 43

time course=8 wks Dx: CSF, EMG, then sural N biopsy prolong F wave/absent F -partial conduction block, abnormal temporal dispersion vs MMN - sensory problems in CIDP Tx - plasmapharesis, steroids, IVIG, azathioprine

Answer 44

1. focal nerve injury->segmental demyelination (before axonal loss) ->conduction block without temp dispersion: -conduction block reversible 2. severe: axonal loss -> Wallerian degeneration - completed in 7-10 days ("pseudoconduction block" due to axon loss) -after 10 days: distal axon degenerates, can't conduct ->pseudoconduction block resolves -fibs - 3 weeks after injury

Answer 45

-thenar eminence sensory spared b/c palmar sensory branch outside carpal tunnel -motor branch distal to tunnel: thenar/recurrent motor branch - weakness thumb abduction, opposition

Answer 46

Autosomal dominant - amyloid deposition - mutations in *transthyretin FAP1/2*- (made in liver and transports thyroxine) -loss *pinprick and temp* , relative sparing of proprioception **FAP1 - loss pain/temp + autonomic SX + cardiac/renal Sx 30s-40s, polyneuropathy pain+temp, relative spares dorsal columns -cardiac + renal involved ** -congo green stain **FAP2 - carpal tunnel+ *no autonomic features* - 40s-50s, no ANS dysfxn, slow polyneuropathy loss pain and temp** FAP3, FAP4 - not transthyretin FAP 3 - apolipoprotein A1 gene -like Fap1 but more renal, GI involvement FAP4-start in 20s - amyloid protein gelsolin mutation - CN VII, VIII, XII affected, no ANS fxn vs primary amyloidosis - AL amyloid deposition ; vs secondary amyloidosis (AA amyloid deposition)

Answer 47

formed by ventral/*anterior Rami* of nerve roots dorsal ramus-motor innervation to the deep (a.k.a. intrinsic or true) muscles of the back, and sensory innervation to the skin of the posterior portion of the head, neck and back

Answer 48

no weakness, no atrophy, normal exam -need to rule out bad things with EMG - EMG-fasciculation potentials without denervation

Answer 49

L5 - normal SNAPS in L5 radiculopathy although H reflex reduced/absent Plexopathy: SNAPs abnormal; no paraspinal fibrillations **Radiculopathy - paraspinal fibrillations, normal SNAP** -paraspinal abnormal in L5, normal in plexus (T12-L4) -foot inversion normal = common peroneal neuropathy not L5 neuropathy b/c inversion posterior tibial (innervated by tibial N) -L5 - glut muscle weakness -**tibialis anterior - L5 deep peroneal innervated and L4** -fem N injury intrapelvic vs inguinal ligament: if after inguinal ligament, no hip flexion weakness b/c iliacus and psoas innervation intact Lumbar plexus: T12-L4 - 3 minor N - (T12-L1), iliohypogastric, (T12-L1) ilioinguinal (L1-L2)-genitofemoral 3 major N - L2-3 - **lateral femoral cutaneous** - pure sensory, meralgia paresthetica , worse with standing, walking, better with flexion at hip L2-4 anterior division- obturator - medial thigh sensation + adduction L2-4 posterior division- femoral - quads, anterior thigh sensation- thigh flexion+leg extension (patellar reflex) -inntervates psoas major, iliacus then under inguinal canal -**intrapelvic injury: hip flexion weakness and iliacus fibrillation potentials; if after inguinal ligament, no hip flexion weakness** -in intrapelvic region: iliacus fibrillations, psoas weak, hip flex weak L4/L5-lumbrosacral trunk joins sacral plexus to give off sciatic nerve Sacral plexus: Lumbrosacral trunk L4/5 + S1-S4 L4-S3 - Sciatic nerve - first gives off superior/inferior gluteal nerves L4-S1 - * superior gluteal nerve - glut med+min+tensor fascia lata* L5-S2- *inferior glueal N- glut max - extends and externally rotates hip* sciatic nerve-Tibial division - adductor magnus/semimembranous/semitendinous, long head biceps femoris (long winded mnemonic) flexes knee sciatic N common peroneal division - short head biceps femoris - only peroneal innervated above the knee Long head biceps femoris-tibial nerve Hamstring-Semitendonosus and semimembranosus - sciatic/tibial nerve L4-S3 anterior division - tibial - in knee - gastros, tibialis posterior - A-TIP -tibial gives off sural N after knee - sensory innervation to lateral leg+ foot -tibial nerve at tarsal tunnel: plantar pain, sense loss on sole, no weakness L4-S2 posterior division - common peroneal - P-PED -deep peroneal - tibialis anterior (L5), extensor hallucis, extensor digitorum - foot drop; sensory to web space btw first two toes -**superficial peroneal - eversion** S1-S3 -posterior femoral cutaneous nerve lower buttock/post thigh sensation S2, 3, 4 - pudendal nerve - sensory info to genitals glut med out - abductor, lifts pelvis up trendelenberg gait glut min - internal rotator

Answer 50

PMP22 deletion, autosomal dominant conduction block sites -peroneal most common N involved, then ulnar -Hx compression/traction -**NO pain** - distinct vs. hereditary neuralgic amyotrophy (Parsonage Turner) -prolonged distal latency, focal slowing at compressive sites -biopsy: sausage thickening in myelin = **tomacula**- demyelination, axon loss; not inflammation

Answer 51

Anti-Hu - SCLC - dorsal root ganglionopthy, peripheral neuropathy anti-yo - ovarian cancer, almost all females cerebellar degeneration Anti-Ri - lung (NSCLC, SCLC), breast - opsoclonus myoclonus Anti-Ma - NSCLC, testicular cancer, young males - limbic encephalitis, brain stem encephalitis KLHL11- brainstem/cerebellar syndrome - testicular tumors young males Amphiphysin - stiff person-SCLC, breast cancer SOX1-LEMS

Answer 52

AR, mutation ATP-binding **cassette transporter protein** - ABCA1 gene, 9q31 symmetric polyneuropathy-loss pain + temp feet, can mimic syringomyelia -hand weakness, UE+LE weakness -or multi focal mononeurpathy -orange tonsils because TG deposited -low LDL, LOW HDL, high TG TG in reticuloendothelial -bone marrow biopsy: fat laden macrophages, premature atherosclerosis Histo: foamy macrophages Dx: clinical + lipid panel

Answer 53

Pure motor, no sensory Sx **CSF: normal protein** Can have anti-GM1 Ab, doesn’t mean anything EMG: if other demyelination features don’t need conduction block to Dx and **block does not correspond to Tx response** Tx: IVIG, NOT plasmapharesis or steroids; ritux, cyclophosphamide

Answer 54

Significant weight loss or during adjustment of insulin -low back/hip PAIN radiates down leg, worse at night, sensory deficit then weakness, atrophy, absent patellar reflex; unilateral EMG: denervation in myotomes Pain can resolve spontaneously then weakness better L2, L3, L4 distribution

Answer 55

Radial - sole triceps innervation Innervates brachioradialis Mostly extensor except abductor pollicis longus Sensory: posterior +*lateral *arm, posterior forearm R neuropathy **proximal to spiral groove: triceps weak, posterior arm sense loss** - sat night palsy, crutches; triceps reflex can be absent but pronation strong (pronator teres C7) -**if not axillary/posterior cord: strong deltoid and teres minor ** Distal to spiral groove: intact triceps and upper arm sensation Posterior interosseus nerve - pure motor syndrome; no wrist drop obvious b/c only weakness wrist extension in ulnar direction -supinator syndrome: posterior interosseus N compressed as it travels through supinator; pain with supination -diabetic mononeuropathy Handcuffs/watch injury- superficial sensory radial neuropathy - numbness over dorsolateral hand

Answer 56

Compression at elbow - postcondylar groove entrapment - proximal to wrist - flexor carpi ulnaris, flexor digitorum profundus weak, *loss of sensation to hypothenar eminence* -truck driver leaning arm on window -conservative management , surgery rare Compression at wrist - Guyon’s canal - hypothenar eminence sensation spared (palmar cutaneous branch proximal to canal) sensory: only to anterior/posterior 4th and 5th digit to hand vs. neurogenic Thoracic outlet syndrome: C8/T1 nerve root compression - scalene triangle (scalenes+first rib), fibrous band forms - holding up pompoms -intrinsic hand muscle weakness + sensory loss medial forearm (t1+C8) -arm abduction, external rotation precipitates Sx and decreases radial pulse

Answer 57

Small fiber - DM neuropathy - pain burning, no vib/propio abnormalities -alpha-delta and C fibers (unmyelinated) -can come with ANS symptoms b/c ANS neuropathy Complications: Charcot joint - ankle arthropathy - loss of sensation and sensory ataxia

Answer 58

Flexor pollicis longus - Median - in forearm Flexor pollicis brevis- ulnar - in hand + median in hand Adductor pollicis - ulnar in hand

Answer 59

All anterior forearm muscles except flexor carpi ulnarnis and flex digitorium profundus (DIPs) in 4th, 5th digit (ulnar), flexor pollicis longus (anterior interossei branch median nerve) In hand: 1/2 LOAF brev - 1/2 lumbricles 1 and 2 OAF - opponens policis, abductor pollicis brevis (palmar abduction away from plane of palm), flexor pollicis brevis (Ulnar: adductor pollicis, flexor pollicis brevis (MCP join flexion), interossei, digiti minimi ) Radial: forearm = abductor pollicis longus = radial abduction in plane of palm Extensor pollicis longus (extend at Inter phalange al joint), extensor pollicis brevis )extent at MCP joint) Median N injury: brachial N in antecubital fossa **Anterior interosseus N syndrome: NO sensory Sx** can’t make OK sign - deep muscles flex dig profundus, flex pollicis longus, pronator quadratus Pronator teres syndrome - forceful pronation +/- medial epicondylitis ; compresses median N as goes through pronator teres; strength full in pronation but pain

Answer 60

AV shunt for dialysis -painful circumferential sensory loss in multiple distributions

Answer 61

Acute brachial plexitis/neuralgic amyotrophic -acute shoulder arm PAIN RESOLVES THEN weakness -brachial plexus or lumbrosacral plexus -monophasic -hereditary neuralgic amyotrophy- autosomal dominant - SEPT9 gene Ddx after surgery - hematoma

Answer 62

Dorsal columns spared

Answer 63

Aidp - prolonged lantency, slow conduction velocity MADSAM - demyelinating - asymmetric, upper limbs then lower limbs , no GM1 Ab vs MMN Acute motor and sensory axonal neuropathy - no demyelination; low sensory and motor amplitudes Acute motor axonal neuropathy - reduced motor amplitude, no demyelination

Answer 64

Lower medulla +C1-C4 fibers -innervates SCM and trap (arm abduction >90 degrees; elevates scapula) -no sensory deficit Radical neck dissection injury *Vs cervical plexus*: C1-C4 ventral rami, neck muscles and **sensory** innervation to post head/neck

Answer 65

musculocutaneous: sensory to lateral forearm coracobrachialis, brachialis, biceps brachii if stronger forearm supination when extended = brachioradialis strong- (not C6 radiculopathy or RADIAL) -lateral cord lesion: C5, C7 muscles affected - flexor carpi radialis, pronator teres, hand sensory loss

Answer 66

anterior shoulder dislocation -C5/C7 continuation posterior cord -deltoid (abducts 30-90 degrees), teres minor sensory lateral arm

Answer 67

C5 - rhomboids - at C5 root - dorsal scapular - intrascapular wasting, scapular wining -C5 contributes to phrenic N (C3, C4, C5 - diaphram) -prox to C5 lesion-diaphragm weakness biceps - C5 innervated (C5-C6-C7) Long thoracic N - innervates serratus anterior - scapular winging suprascapular N - 30 decrees abduction, entrapment *thoracodorsal* - posterior cord - arm adduction-lat dorsi

Answer 68

alpha-galactosidase A , X linked lysosomal storage disorder -**angiokeratomas - dark lesion, axilla, scrotum** -**small fiber , Autonomic neuropathy** **strokes** dolieoctasia , deposites of globotriasylceramide -painful acroparesthesias (numbness, tingling, prickling, and reduced sensation, affecting fingers + toes) worse with heat and exercise -vs. primary erythromelalgia (SCN9A, AD) -no small fiber neuropathy

Answer 69

bulges in abdominal wall, unilateral ab pain, fibrillation, loss reflexes in abdominal wall in DM weakness of abdominal wall

Answer 70

HSAN -** sensory+autonomic Sx, motor ok** -stress fracture, Charcot joints, calluses, ulcers, **infection, osteomyelitis** **HSAN1 - most common - AD - adult, lancinating pain, temperature/pain sense loss, hypohidrosis** -serine palmitoyltransferase mutation- rate limiting sphingolipid synthesis **HSAN2 - infancy - insensitivity to pain, NO ANS symptoms, cognitive fxn normal, retinitis pigmentosa**, no SNAPS on NC **HSAN3 - Riley Day familial dysautonomia - AR, IKAP gene, infancy, SWEAT with stimulation, no lacrimation** mutation-abnormal mRNA splicing, dysfxn endocytosis start infancy; vomiting, infections, dysphagia, smooth tongue biopsy: decrease unmyelianted axons **HSAN4- AR insensitivity to pain+cog dysfxn+NO SWEAT; fevers; hyperactivity** - tyrosine kinase R mutation for nerve growth factor NTRK1 vs CMT: CMT has motor weakness, no early dysphagia, no autonomic dysfxn

Answer 71

two or more mononeuropathies -vasculitis - polyarteritis nodosa, granulomatosis with polyangiitis, Sjogren's, Churg/Strauss, cryoglobinlinemia, HIV, lyme, sarcoid, RA, Diabetes

Answer 72

constitutional Sx, palpable purpura, LAD, HSM, *peripheral neuropathy, mononeuritis multiplex, ischemic stroke** -hep C, HIV, multiple myeloma association Tx: steroids, cyclophosphamide

Answer 73

**AD inheritance, SCN9A mutation ->hyperactivity dorsal root ganglia** *episodic burning pain and redness worse with heat, no small fiber neuropathy* secondary erythromelalgia - polycyethemia, SLE DDx Fabry: alpha-galactosidase A - heat triggered acroparethesias but biopsy with small fiber neuropathy DDx HSAN1 - symptoms not episodic like primary erythromelalgia

Answer 74

neuronopathy = cell bodies +axons involved -sensory ataxia, areflexia cause: pyridoxine intoxication, paraneoplastic (anti-Hu, SCLC)

Answer 75

SEPT 9 gene Familial brachial plexopathy

Answer 76

Onuf nuc spared, sphincter functional, rare sensory and rare dysautonomia -present LMN findings first -riluzole - inhibits glutamate release - slows disease, extends survival by 3 months pseudobulbar affect - dextromethorphan-quinidine Familial ALS: C9orf72 ; SOD1 (copper/zinc superoxide dismutase), TDP-43, and FUS.17,18,20 -autosomal dominant DDx: spinocerebellar ataxia 3, adrenoleukodystrophy, MMA (GM1 Ab), anti-Hu paraneoplastic Ab (SCLS-dorsal root ganglionopathy, peripheral neuropathy), hyperparathyroidism

Answer 77

metastatic - more symptoms and deficits since grow faster primary - slow growing, Sx less than imaging meningioma: T1- iso to hyperintense T2- isointense to cord intradural, extra vs intra medullary -intramedullary: astrocytoma (more common in kids), ependymomas (most common SC tumor in adults) -myxopapillary ependymoma - from filum terminale -extramedullary: meningioma, neurofibroma, schwannoma rare metastatic intramedullary mets breast lung prostate kidney most common

Answer 78

B12-cofactor methionine synthase - convert homocysteine to methionine -B12 can be normal in deficiency ->check homocysteine + MMA MCC malabsorption -high gastrin levels, anti-IF Ab, antipareital (achlorhydria (no HCl from stomach) 2/2 pernicious anemia) -2/2 nitrous oxide toxicity makes B12 inactive -*white matter vacuolization*

Answer 79

1. Primary lateral sclerosis-UMN only for 4 years Sx in 60s, spastic tetraparesis, CN involved, -spasticity more than weakness/atrophy -no autonomic Sx Autopsy: loss Betz cells layer 5 motor cortex DDx cervical myelopathy, MS, 1 (tropical spastic paraparesis), stiff person, hexosaminidase A deficiency Tx: baclofen: GABA-B agonist tizanidine: alpha 2 agonist 2. tropical spastic paraparesis - HTLV1 - painful, bladder dyxfxn, LE weakness/spasticity (vs HIV Myelopathy-no pain) -associated with lymphoma, leukemia 3. Hereditary spastic paraparesis - variable inheritance and expression; but commonly AD SPG4 gene mutation -LE spasticity, excludes UE -cog chances, seizures, hearling loss, optic atrophy, ataxia 4. Adrenomyeloneuropathy -ABCD1 gene on Chr Xq28 -adrenal insufficiency, cog change, peripheral neuropathy Friedreich ataxia - hypertrophy cardiomyopathy, optic atrophy, hearing loss, nystagmus, peripheral neuropathy

Answer 80

1. Hexosaminidase A deficiency is a rare cause of lower motor neuron dysfunction- limb weakness and atrophy, +/- dysphagia and dysarthria- HEXA gene. +/- cerebellar atrophy -psychiatric Sx 2. Kennedy disease - - X linked CAG repeat androgen receptor, fertility problems, gynecomastia, diabetes -proximal muscle start vs progressive muscle atrophy -face fasciculations -bulbar dysfxn late -rare in females 2/2 random X inactivation 3. Monomelic amyotrophy/Hirayama - young Asian pts -asymmetric wasting of hands/forearms -atrophy + fasciculations, no sensory deficits, no pain; does not progress -may be caused by neck flexion-cervical collar 4. Progressive muscle atrophy - ALS but LMN signs only (need isolated LMN signs at least 3 years from Sx onset) -starts as **focal distal weakness** -presents earlier vs ALS + live longer; bulbar involvement late; progresses over 3-5 yrs -CK only mild elevation -vs SMA: indolent progression + prox muscle - vs IBM -only finger flexor + quad weak 5. SMA -AR SMN1 mutations, lose survival motor neuron proteins, anterior horn cells type 1 - infantile - Werdnig-Hoffman - hypotonia, areflexia, dysphagia, death by 2 yrs - type 2 - intermediate - Sx 1-2 yrs of life type 3 - juvenile - Kugelberg Welander - tremor, prox muscle weakness, fasciculations. EMG-complex repetitive discharges SMA 4- adult /pseudomyopathic - prox muscle weakness esp quads, fasciculations -rare CN, respiratory involvement **CK: 10x normal for juvenile forms** EMG: large polyphasic motor units, chronic and acute denervation/renervation Biopsy: atrophy of muscle fascicles, some neighboring normal and hypertrophied fascicles.

Answer 81

watershed infarct : T4-T8 - watershed (vs A Adamkiewicz-T8-L3) ASA+PSAs from vertebrals ASA infarct - paraplegia + STT loss bilaterally Brown Sequard: ipsilateral loss vibes+proprioception+ motor, contralateral loss pain/temp -segmental A from aorta, internal iliac ->thoracic, lumbar -epidural venous plexus connects pelvic venous plexus + intracranial venous system -odontoid process-C2 Horner’s syndrome: above T1 superficial abdominal reflex: T6 atlantoaxial dislocation - Klippel-Feil syndrome, Morquio (odontoid process aplastic/absent), Downs, RA spinal cord: dorsal to posterior longitudinal ligament -enlargements at cervical + lumbosacral levels -denticulate ligament: from pia mater to dura mater on both sides of cord cervical nerves: exit above vertebral body except C8 -> exits between C7-T1 foramen all others exit below

Answer 82

T2: hypointense (if acute blood) SWI/T2*: blooming artifact -Sx over days vs dural AV fistula - chronic Sx with acute exacerbations ->venous infarcts

Answer 83

transient form: 3-6 months after Tx; dysesthesias, resolve delayed: 6 months after, insidious, increase T2 signal in MRI

Answer 84

lathyrism - neurotoxin - subacute spastic paraparesis - Lathyrus sativus - legume Konzo - spastic pareparesis - visual problem - cassava - cyanide

Answer 85

Hypertrophy extramedullary adipose tissue in spinal canal causing stenosis -Tx: stop steroids

Answer 86

excess zinc -> metallothionein activity increased -> copper binds metallothionein ->sloughed off in mucosa->decreases copper -T2 hyperintensity cervical spinal cord -can get optic neuronopathy -peripheral neuropathy

Answer 87

NMO-IgG: aquaporin 4 on astrocyte foot processes -not encephalopathic vs ADEM (ADEM can get transverse myelitis-over multiple segments; Tx: steroids)

Answer 88

X linked ABCD1 -accumulate VLCFA -starts at 20s: paraparesis, sphincter control problem, hypogonadism; cognitive/hearing/vis impairment -adrenal insufficiency increase VLCFA in plasma, fibroblasts

Answer 89

recurrent bleeding into SAH (unknown source) -> hemosiderin deposits in subpial layers -unknown cause, possibly risk of prior bleeds -Sx: gait ataxia + hearing loss -anosmia, cognitive problems, myelopathy CSF: xanthrochromia **MRI: T2 hypointensity** around brain, brainstem, spinal cord

Answer 90

conus medullaris: saddle anesthesia, symmetric pain (not radicular) -bowel and bladder dysfxn early cauda equina: hyporeflexia, asymmetric, radicular, bowel/bladder spared early

Answer 91

spinocerebellar ataxia type 3-Machado Joseph

Answer 92

anesthesia paresthetica: myelopathy, neuropathy +/- encephalopathy **NO inactivates B12** -if B12 deficiency can get myelopathy after one exposure to NO -chronic exposure from healthcare workers + acute exacerbations if big NO load MRI: T2 hyperintensity in cord

Answer 93

NO LUMBAR PUNCTURE - spread disease -MCC Staph