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Cheng-Ching > Neuromuscular > Flashcards

Neuromuscular Flashcards

1
Q

CMT

A

CMT1 (all AD) - CMT1A - duplication PMP22 (most common) - peripheral myelin protein 22-PMP22
(Vs HNPP -AD- PMP22 deletion)
-starts 10s-20s
peripheral N hypertrophy (palpable) hammertoes, high arched feet (pes cavus), ue late
NC: conduction velocity slowed no conduction block
-CMT1 and CMTX- demyelinating form
-Roussy-Levy like CMT1A+tremor+ataxia
-biopsy: onion-bulb appearance-Schwann cell proliferation (also in CIDP), not specific

CMT1B - mutation in myelin protein 0 gene
-more severe vs CMT1A

CMT demyelinating (1 and TX) - get CV and over time secondary axonal loss
axonal form - normal CV, decreased SNAP, CMAP

CMT2: axonal less severe, Sx later in life
-mitofusin2 MFM2
CMT2A2-optic atrophy
CMT2B - foot ulceration
CMT2C - diaphragm weak, VC paralysis
CMT 2D - HANDS more than feet involved

CMTX - 2nd most common-demyelinating, limited to CMT1 but X linked-males worse
-connexin 32 gene

CMT3 - Dejerine-Sottas - hypertrophic neuropathy of infancy - as infant, pain and dysesthesias, no reflexes, hypertrophy peripheral nerves
-AD or AR, multiple myeline gene mutations

CMT4 - demyelinating + axonal = RECESSIVE - rare, severe, young age, scoliosis, hearing loss + vision loss (only CMT4 AR; CMT1, FAP, HNPP, HSAN1 all AD)

CMT vs muscular dystrophy: nerve conduction different and hammertoes/high arches specific for CMT

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2
Q

Irregular firing pattern

A

Fasciculations

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3
Q

giant axonal neuropathy

A

intermediate filaments in axonal swellings
-CNS and PNS Sx
-curled hair
-walk on insides of feet
(vs metachromatic leukodystrophy-elevated urine sulfatides)

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4
Q

Refsum disease

A

AD peroxisome disorder, build up of intermediary phytanic acid build up
-retinitis pigmentosa (night blindness, VF constriction)
-hearing loss, anosmia, ataxia-cardiomyopathy
-large fiber sensorimotor neuropathy
-short 4th toe

Tx: reduce phytanic acid in diet

vs KSS - no neuropathy

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5
Q

Abetalipoproteinemia / Bassen-Kornzweig

A

AR-defect in TG transport
-DEAK deficiencies
-low serum Beta-lipoprotein + vit E
-acanthocytes
-retinitis pigmentosa, neuropathy, ataxia
-mutation in microsomal triglyceride transfer protein MTTP

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6
Q

Kearns Sayre syndrome

A

mitochondrial disease
ophthalmoplegia; oculobulbar weakness
cardiac conduction defects
retinitis, hearing loss, ataxia
NO neuropathy

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6
Q

Myotonic dystrophy

A

Autosomal dominant
DM1 DMPK (myotonic dystrophy protein kinase gene) CTG repeats on 19q; anticipation, Moderate-severe Sx age 20s-30s
“Cataracts-toupee-gonads”
-distal predominant weakness - hand and peroneal; atrophy masseters, temporalis (rare)
-laryngeal, pharyngeal muscles spared vs oculopharyngeal muscular dystrophy
-megacolon, esophageal dilation, lenticular opacities, cataracts, infertility, intellect disability
-CK slightly elevated (vs muscular dystrophy)
-EMG: myotonic discharge, early recruits MUAP, fibrillations
-histo: central nucleation, type I fiber atrophy, peripherally placed sarcoplasmic masses, ring fibers, pyknotic nuclear clumps

DM2 CNBP (cchc type nucleic acid binding protein); CCTG repeats on Zinc finger (PROMM-proximal myotonic myopathy)
protein 9 gene, no anticipation Mild-moderate Sx, average age 50
-PROXIMAL myopathy vs DM1

DM1, DM2: repeats cause sequester RNA binding proteins; causes mispliced transcripts

Sx: leg weakness, myalgia, myotonia; neck flexion weakness

Tx handgrip/oropharyngeal myotonia: mexilitine if ok for cards
Cardiac and GI muscle involved
sleep study
get lipid panel, TSH, screen for DM
-higher cancer risk

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7
Q

acid maltase deficiency =POMPE
ALS, MG, phrenic N injury

A

early respiratory muscle weakness
-orthopnea - gravity working against diaphragm
-hypoventilate daytime sleepiness, morning HA during to hypercarbia

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8
Q

spinobulbar muscular atrophy

A

gynecomastia 2/2 androgen insensitivity

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9
Q

central core disease

A

rhabdomyolysis, myoglobinuria

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10
Q

arsenic toxicity

A

red swollen feet with Mees lines (white horizontal lines on fingernails)
-hair loss

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11
Q

Lambert-eaton LEMS

A

P/Q type Ca channels Ab

Antibodies from patients with LEMS inhibit the function of the VGCCs

Autoimmune (SOX Ab negative) or paraneoplastic (SCLC) - SOX1 Ab positive
prox muscle weakness, ANS dysfxn, areflexia (vs MG)
-still need malignancy w/u; SOX antibody
-facilitation of reflexes after exercise

NC: LOW CMAP (vs MG) initally
RAPID rep stim (20-50 Hz vs MG-slow 2Hz rep stim) incremental response CMAP amplitudes

with postactivation facilitation. Decrement <10% on repetitive nerve stim increasing 100% after muscle contraction

Tx: Sx-3,4 diaminopyridine (3,4-DAP = amifampridine) blocks efflux K+ ions, prolonging depolarization, ACh exocytosis -> keep Ca channels open longer (ACHEI don’t work)
-, if severe IVIG, plasma exchange
-if autoimmune: steroids, IVIG, PLEX;
-if cancer Tx cancer and LEMS will improve
-PDE-5 inhibits for ED

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12
Q

botulinum

A

presynaptic cleavage SNARE proteins to prevent ACh release
Botulinum toxin A - SNAP-25 (snare protein)
botulinum toxin B - VAMP (snare protein)
NO sensory symptoms

2,3 HZ repetitive nerve stim - mild/moderate post-activation facilitation

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13
Q

neuromuscular blockers

A

general anesthesia
macrolide, quinolone ABx
checkpoint inhibitors

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14
Q

immune checkpoint inhibitor related myositis

A

myasthenia gravis, myositis, myocarditis, lymphopenia
-neck extensors affected, limb girdle, ocular muscle weakness
-CK not as high myositis
Tx: steroids, IVIG is refractory

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15
Q

antisynthetase syndrome

A

myositis, ILD, Anti-Jo-1, Raynaud, mechanic’s hands, arthralgias

path: perimysial fragmentation+ macrophages,
no lymphs; no capillary pathology vs dermatomyositis

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16
Q

immune mediated necrotizing myopathy

A

SRP: very high CK, evere rapid progression, rare cancer

cancer risk: if seronegative
-anti-HMG-CoA reductase IgG Ab

path: no inflammation but necrosis

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17
Q

dermatomyositis

A

anti-Mi2 nail abnormalities

highest cancer risk: TIF, NXP
anti-TIF1-gamma, anti-NXP-2 antibodies

path: capillary dropout , perifascicular atrophy (white lines around muscle fascicles) + perifascicular inflammation
-Tx: steroids, azathioprine, methotrexate (but contraindicated in ILD)

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18
Q

inclusion body myositis

A

Dx: flexors weak
early-flexor digitorum profundus weakness (forearm flexor muscle atrophy)
-quad muscle weakness
-anterior tibial muscle weakness (plantar flexion weakness)
-dysphagia
* +endomysial inflammation/rimmed vacuoles *

If histo unrevealing ->anti-NT5C1A Ab but not specific for only IBM
No Tx, does not respond to steroids

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19
Q

Dystrophinopathies

A

DMD gene mutation on X chr- largest gene, lots of spontaneous de novo mutations, deletion/duplication common
produces dystrophin protein that is dysfxnal

females rarely symptomatic - if Turner’s, uniparental disomy

female carriers - can get cardiac involvement even if no skeletal involvement, need surveillance

reading-frame rule:
in-frame mutations = milderBecker phenotype
out-of-frame predicts Duchenne

dystrophin: stabilizes membrane and protects from cell damage

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20
Q

Type 1 Duchenne, type 2 Becker muscular dystropy

A

XL recessive, most common muscle disease
1/3 caused 2/2 spontaneous mutations in dystrophin gene

Sx at young childhood, gross motor delay, toe walking
-gait: widened, equinus contracture, waddling
Limb girdle + pretibial muscles weak
Scapular winging
lumbar lordosis
cardiomyopathy
enlarged calves (+CK elevation specific to becker/duchenne) hhhghg

Duchenne - nonambulatory by 13

Becker nonambulatory by 16

CK: 5-10x elevated

path: absent dystrophin, endomysial fibrosis, fat, loss type I fibers
Tx: genetic or muscle biopsy showing no staining of dystrophin

Treat: steroids

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21
Q

limb girdle muscular dystrophy

A

AR - more common; younger onset, higher CK, more acute loss strength

AD - older, less aggressive

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22
Q

Facioscapulohumeral muscular dystrophy

A

Muscle cell death via misexpression double homeobox 4 (DUX4) - pathogenically turned on -
Fshd 1 and 2 clinically indistinguishable
-most AD

FSHD1 - 95% of pts - contraction of D4Z4 repeat array - the more contracted the worst - encodes pathologic variant - DUX4 gene turned on
-milder disease if longer repeats; short repeats have severe phenotype

facial weakness, orbicularis oculi, corners of mouth- zygomaticus major
-levator palpebrae, EOM spared

EMG - myopathic units

FSHD2 - SMCHD1 mutation - chromatin modifier genes

early Sx: signe de cils (can’t bury eyeliches), scapular winging
-Beevor sign - umbilicus moves upward with neck flexion
-dorsiflexion weakness (vs LGMD2B/R2), face is expressionless b/c weak
-CK normal or slight elevation (vs LGMDR1, scapular winging with elevated CK)

late Sx: LE weakness
EYES, EARS, LUNG (restrictive lung disease) problems
NO cardiomyopathy, no diplopia

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23
Q

Emery-Dreyfuss muscular dystrophy

A

Life threatening cardiac problems, early contractures, biceps and triceps weakness
-start adolescence
-mutation in EMD/LMNA genes
LMNA - AD
Emerin- X linked

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24
Q

Hypokalemia PP, hyperkalemic PP

A

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

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25
Q

Steroid myopathy

A

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

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26
Q

Type I vs type II muscle fiber atrophy

A

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

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27
Q

Centronuclear myopathy

A
  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

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28
Q

Myasthenia gravis

A

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

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29
Q

Botulinum toxin MOA

A

Inhibits exocytosis of presynaptic vesicles of ACh

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30
Q

Congenital muscular dystrophy

A

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

  1. Merosinopathies - laminin-alpha 2 related CMD
    -reduced merosin on muscle staining
    -EOM spared
    -intelligence normal
  2. 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

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31
Q

Core myopathy

A

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

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32
Q

Oculopharyngeal muscular dystrophy

A

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

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33
Q

glycogen storage disorders

A

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)

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34
Q

McArdle

A

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

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35
Q

Tarui

A

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

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36
Q

glycogen storage disease vs FA oxidation defect vs mitochondrial disorder

A
  1. glycogen storage -
  2. FA oxidation
  3. Mitochondrial
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37
Q

lysosomal storage diseases

A

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

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38
Q

Carotid sinus hypersensitivity

A

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

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39
Q

Syncope pathophysiology

A
  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
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40
Q

Glossopharyngeal neuralgia

A

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

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41
Q

Adult myopathies/muscular dystrophies

A

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

  1. 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

  1. 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
  2. Welander - AD - onset 40-60 yrs - weak HANDS then legs (“Weleda hand cream”)
    -biopsy: rimmed vacuoles
  3. IBM - rimmed vacuole, inflammatory invasion of fibers
    -NO deltoid weakness vs dermato/polymyositis
    -thumb flexion weakness with interossei strong
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42
Q

Pyridostigmine

A

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

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43
Q

Acute pandysautonomia

A

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

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44
Q

Inflammatory myopathies

A
  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
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45
Q

Statin toxicity

A

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

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46
Q

muscular dystrophies disorders of cardiac conduction and contractility,

A

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).

47
Q

LGMD

A

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

48
Q

Neurotransmitters of ANS

A
  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

  1. ACh -
    M1-R on autonomic ganglia - decrease expresan release norepi, ACh
    M2-sinus node - REDUCE HR
    M3-salivary -(SNS) increase secretions, bronchodilation
49
Q

Trichinosis

A

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)

50
Q

Congenital myopathy

A
  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
51
Q

ANS testing

A

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

52
Q

Acid Maltese deficiency

A

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

53
Q

Congenital myasthenia

A

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

54
Q

Sympathetic and parasympathetic nervous system anatomy

A

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

55
Q

Horner’s

A

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

56
Q

detrusor sphincter dyssynergia

A

detrusor muscle contracts, urethral sphincter unrelaxed

57
Q

Micturition reflex

A
  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

58
Q

Urinary incontinence lesions

A
  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
59
Q

enteric nervous system

A

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

60
Q

Myofibrillar myopathy -

A

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

61
Q

chloride channelopathy

A

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

62
Q

critical illness myopathy vs polyneuropathy

A

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

63
Q

Tx orthostatic hypotension

A

abdominal binder-shunts blood from splanchnic mesenteric circulation

-fludrocortisone-expands plasma volume
midodrine,
-pyridostigmine
droxidopa: converts to norepi

64
Q

Nerve conduction studies

A

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

65
Q

EMG

A

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)

  1. myopathic: short small MUPs, polyphasic
  2. poor effort/CNS disordres causing weakness - recuirtment reduced, normal MUPs firing slow
66
Q

CIDP

A

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

67
Q

peripheral nerve injury

A
  1. focal nerve injury->segmental demyelination (before axonal loss) ->conduction block without temp dispersion:

-conduction block reversible

  1. 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

68
Q

carpal tunnel syndrome

A

-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

69
Q

familial amyloid polyneuropathy - AD

A

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)

70
Q

brachial plexus

A

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

71
Q

benign fasciculation syndrome

A

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

72
Q

Lumbrosacral plexus

A

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

73
Q

HNPP

A

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

74
Q

paraneoplastic Ab

A

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

75
Q

tangier

A

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

76
Q

Multi focal motor neuropathy

A

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

77
Q

Diabetic amiotrophy

A

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

78
Q

Radial N

A

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

79
Q

Ulnar N

A

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

80
Q

diabetic neuropathy

A

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

81
Q

Arm/forearm/hand anatomy

A

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

82
Q

Median N

A

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

83
Q

Ischemic monomelia

A

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

84
Q

Parsonage turner

A

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

85
Q

anterior spinal A infarct

A

Dorsal columns spared

86
Q

AIDP

A

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

87
Q

Spinal accessory nerve

A

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

88
Q

musculocutaneous vs lateral cord lesion

A

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

89
Q

axillary neuropathy

A

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

90
Q

C5/C6 differentiation

A

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

91
Q

fabry

A

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

92
Q

thoracoabdominal polyradiculopathy

A

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

93
Q

hereditary sensory and autonomic neuropathy HSAN

A

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

94
Q

mononeuritis multiplex

A

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

95
Q

cryoglobulinemia

A

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

96
Q

primary erythromelalgia

A

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

97
Q

sensory neuronopathy/ganglionopathy

A

neuronopathy = cell bodies +axons involved
-sensory ataxia, areflexia

cause: pyridoxine intoxication, paraneoplastic (anti-Hu, SCLC)

98
Q

Hereditary amyotrophy

A

SEPT 9 gene
Familial brachial plexopathy

99
Q

ALS

A

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

100
Q

spine tumors

A

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

101
Q

B12 deficiency

A

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

102
Q

upper motor neuron disease

A
  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

  1. tropical spastic paraparesis - HTLV1 - painful, bladder dyxfxn, LE weakness/spasticity (vs HIV Myelopathy-no pain)
    -associated with lymphoma, leukemia
  2. 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
  3. Adrenomyeloneuropathy -ABCD1 gene on Chr Xq28
    -adrenal insufficiency, cog change, peripheral neuropathy

Friedreich ataxia - hypertrophy cardiomyopathy, optic atrophy, hearing loss, nystagmus, peripheral neuropathy

103
Q

lower motor neuron disease

A
  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.

104
Q

spine vascular supply + anatomy

A

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

105
Q

spinal epidural hematoma

A

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

106
Q

radiation induced myelopathy

A

transient form: 3-6 months after Tx; dysesthesias, resolve

delayed: 6 months after, insidious, increase T2 signal in MRI

107
Q

toxic myelopathy

A

lathyrism - neurotoxin - subacute spastic paraparesis - Lathyrus sativus - legume

Konzo - spastic pareparesis - visual problem - cassava - cyanide

108
Q

epidural lipomatosis

A

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

109
Q

copper deficiency

A

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

110
Q

nmo

A

NMO-IgG: aquaporin 4 on astrocyte foot processes

-not encephalopathic vs ADEM (ADEM can get transverse myelitis-over multiple segments; Tx: steroids)

111
Q

adrenomyeloneuropathy

A

X linked ABCD1
-accumulate VLCFA

-starts at 20s: paraparesis, sphincter control problem, hypogonadism; cognitive/hearing/vis impairment
-adrenal insufficiency

increase VLCFA in plasma, fibroblasts

112
Q

superficial siderosis

A

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

113
Q

conus medullaris vs cauda equina

A

conus medullaris: saddle anesthesia, symmetric pain (not radicular)
-bowel and bladder dysfxn early

cauda equina: hyporeflexia, asymmetric, radicular, bowel/bladder spared early

114
Q

spinocerebellar ataxia

A

spinocerebellar ataxia type 3-Machado Joseph

115
Q

Nitrous oxide toxicity

A

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

116
Q

spinal epidural abscess

A

NO LUMBAR PUNCTURE - spread disease
-MCC Staph

Cheng-Ching (17 decks)

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