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Neuromuscular > Buzz > Flashcards

Buzz Flashcards

1
Q

Motor neuron diseases with only LMN involvement

A

Progressive muscular atrophy, spinal muscular atrophy, benign focal amyotrophy

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2
Q

Post- gastric bypass neurologic syndrome

A

Copper deficiency

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3
Q

Paraplegia + loss of pain/temp below lesion. Preserved proprio + vibration

A

Anterior spinal artery infarct

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4
Q

Watershed region of spinal cord, sensitive to hypotension

A

T4-T8

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5
Q

Chronic progressive myelopathy associated with T cell lymphoma and leukemia

A

HLTV-1 (aka tropical spastic paraparesis)

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6
Q

Spinal cord blood supply

A

1 anterior spinal artery (anterior 2/3)
2 posterior spinal arteries (posterior 1/3)
From vertebral arteries
There are also radicular and segmental arteries from iliac/aorta

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7
Q

Patient comes in febrile, encephalopathic and with progressive flaccid quadriparesis and areflexia

A

West Nile virus (a Flavivirus)

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8
Q

Ipsilateral loss of motor function and vibration/proprio below lesion, contra lateral loss of pain and temp

A

Brown Sequard syndrome (hemi section)

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9
Q

ABCD1 mutation on Xq28

A

Adrenomyeloneuropathy (x linked)

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10
Q

C9orf72 mutation

A

Most common cause of familial FTD-ALS

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11
Q

Split-hand phenomenon

A

Feature of ALS
weak/atrophic lateral hand (thenar and first dorsal Inteross)
Sparing of medial hand (hypothenar)

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12
Q

nerves of the lumbar plexus (in order)

A

Iliohypogastric
Ilioinguinal
Genitofemoral
Lateral femoral cutaneous
Obturator
Femoral

“I (twice) Get Laid On Fridays”

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13
Q

innervates forearm extensors

A

radial nerve

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14
Q

innervates intrinsic hand muscles

A

ulnar nerve

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15
Q

PMP22 deletion

A

HNPP - autosomal dominant, liability to pressure palsies (peroneal most commonly affected)

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16
Q

PMP22 duplication

A

CMT1A - most common inherited demyelinating neuropathy. AD but variable expression. chromo 17

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17
Q

inherited demyelinating neuropathy in boys

A

CMTX - X-linked, second most common inherited demyelinating neuropathy. connexin 32 gene

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18
Q

CMT2

A

axonal, not demyelinating
later onset than CMT1

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19
Q

severe infantile demyelinating neuropathy

A

CMT3, Dejerine-Sottas syndrome

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20
Q

symmetric sensory neuropathy (loss pain/temp) and orange tonsils

A

Tangier’s disease
ATP cassette transporter gene, ABCA1
orange tonsils due to triglyceride deposits

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21
Q

innervation of medial thigh(roots?)

A

obturator nerve (L2-L4)

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22
Q

innervation of anterior thigh

A

femoral nerve (L2-L4)

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23
Q

nerve roots of lumbar plexus nerves

A

2 from 1 (both iliohypogastric and ilioinguinal from L1)
2 from 2 (genitofemoral L1-L2; lateral fem cut L2-L3)
2 from 3 (both obturator and femoral from L2-L4)

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24
Q

hypokalemic periodic paralysis

A

Calcium!! CACNA1A mutation. dihidropyridine receptor
long attacks of weakness after carbs/exercise, typically the next morning. carbs –> insulin –> K into cells.
risk of malignant hyperthermia

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25
Q

hyperkalemic periodic paralysis

A

SODIUM SCN4a channelopathy! triggered by brief rest/exercise/cold, shorter episodes. treat with low K diet. can have myotonia too (remember PMC is sodium too)

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26
Q

paramyotonia congenita genetics

A

SCN4a mutation! triggered by cold. worse with repeated movement

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27
Q

myotonia congenita - defect?

A

chloride channelopathy
Thompson (AD) - presents in baby/childhood
Becker (AR) - less severe
risk of malignant hyperthermia in both
WARM UP PHENOMENON WITH MYOTONIA CONGENITA

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28
Q

tabes dorsalis phases

A
  1. pre-ataxic phase: lancinating pain in legs, sphincter and sexual dysfunction
  2. ataxic phase: proprio loss, Charcot joint development
  3. post-ataxic/paralytic phase: spastic paraparesis, autonomic dysfunction
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29
Q

cauda equina syndrome vs conus medullaris

A

conus: saddle anesthesia (bilateral and symmetric), symmetric pain with no radicular pain. LE weakness, areflexia, bowel and bladder dysfunction, sexual dysfunction early on

cauda equina: radicular pain! asymmetric! asymmetric weakness! bowel/bladder ok until later

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30
Q

sensory levels of base of neck, nipple line, belly button, groin, anus

A

C4 neck
T4 nipple
T10 belly button
L1 groin
S5 anus

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31
Q

intramedullary spinal cord tumors

A

ependymoma (adults) - including myxopapillary variant from filum terminale

astrocytoma - kids

present with LMN signs early

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32
Q

extramedullary spinal cord tumors

A

meningioma (T spine)
schwannomas
neurofibromas

p/w local pain, radicular, early UMN signs

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33
Q

neuropathy where patient walks on insides of feet, UMN signs, vision loss and curly hair

A

Giant Axonal Neuropathy
AR
death by teens

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34
Q

increased serum phytanic acid levels

A

Refsum’s disease
retinitis pigmentosa and neuropathy

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35
Q

H reflex

A

equivalent to monosynaptic stretch reflex

stimulate the tibial nerve (soleus muscle) or median nerve (flexor carpi radialis) or femoral nerve (quads)

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36
Q

difference between Type I, IIa, IIb muscle fibers

A

Type I: slow oxidative, slow ATPase, large oxidative capacity, SMALL.

LARGE:
Type IIa: fast oxidative, glycolytic, resistant to fatigue(Astudentsdontfatigue)
IIb: fast oxidative, glycolytic - fatiguable

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37
Q

what 2 nerves come from sciatic nerve

A

tibial nerve (medial) and common peroneal nerve (lateral)

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38
Q

sciatic nerve - nerve roots?

A

L4-S3

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39
Q

motor neuropathy, normal sensory NCS, conduction block on EMG, + anti-GM1 antibody. diagnosis and treatment?

A

multifocal motor neuropathy. antibody and conduction block not required for diagnosis, and don’t inform prognosis.

tx with IVIG, rituximab, cyclophosphamide. steroids and PLEX not beneficial and may worsen

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40
Q

inheritance pattern of CMT4

A

autosomal recessive

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41
Q

inheritance pattern of HSAN, HNPP, and familial amyloid polyneuropathies

A

autosomal dominant

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42
Q

short head of biceps femoris in leg

A

peroneal nerve (petite peroneal and short head, vs tall tibial and long head)

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43
Q

long head of biceps femoris in leg

A

tibial nerve(tall+long-tibial,petite+short-peroneal)

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44
Q

old man with impotence, later orthostatic hypotension worse after meals/heat, nocturia, urinary hesitancy. normal cerebellar and sensory exam

A

pure autonomic failure
alpha-synuclein deposition in autonomic nervous system. lewy bodies too.
not MSA b/c normal cerebellar exam, not familial amyloid polyneuropathy I b/c normal sensory exam

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45
Q

rimmed vacuoles on pathology

A

inclusion body myositis

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46
Q

perifascicular atrophy

A

dermatomyositis

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47
Q

autonomic ganglionopathy vs pure autonomic failure

A

symptoms over weeks in autoimmune autonomic ganglionopathy (aka acute pandysautonomia) vs slowly over time in pure autonomic failure. pure autonomic failure more likely to present mid-late adulthood

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48
Q

endomysial inflammation on muscle biopsy

A

polymyositis
inflamm around individual muscle fibers

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49
Q

different manifestations of statin induced myopathy (5)

A
  1. asymptomatic CK elevation
  2. myalgia +/- CK elevation
  3. muscle weakness + CK elevation
  4. rhabdo + CK > 15,000
  5. necrotizing autoimmune myopathy - CK > 6000, rapid onset severe weakness, progresses even after stopping statin. needs immunosuppression
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50
Q

Asian adult man with new onset episodes of periodic paralysis, anxiety, tachycardia, tremor

A

thyrotoxic periodic paralysis
more common in asian males
give K+ during attacks, beta blockers may prevent. Diamox doesnt work.

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51
Q

treatment of Lambert Eaton myasthenia

A

3,4-DAP, steroids, PLEX, IVIG

(mestinon doesn’t work)

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52
Q

ALS diagnostic criteria

A

clinical and/or EMG evidence of both UMN and LMN involvement in 3/4 regions: bulbar, cervical, thoracic, lumbosacral

EMG findings include denervation (fibrillations, reduced recruitment, polyphasic motor units) sensory NCS normal

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53
Q

ALS mimickers

A

spinocerebellar ataxia type 3 (Machado-Joseph dz)
adrenoleukodystrophy
multifocal motor neuropathy
hyperparathyroid
cervical spondylosis
GM2 gangliosidoses
poly glucosan body dz
paraneoplastic motor neuron dz
HIV
WNV

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54
Q

copper deficiency causes what?

A

myelopathy (similar to B12), peripheral neuropathy, CNS demyelination, myopathy, optic neuropathy, heme probs like anemia

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55
Q

MRI spine in copper deficiency

A

T2 hyperintensity at cervical level

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56
Q

lack of improvement after treating B12 deficiency…next step?

A

check copper

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57
Q

what happens if you take too much zinc

A

leads to copper deficiency, because zinc pushes copper into the enterocytes and then it is lost when they slough off

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58
Q

a male with proximal muscle weakness + face fasiculations + endo abnormalities
dz and genetic defect?

A

Kennedy’s disease (X linked)
CAG repeat in androgen receptor protein

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59
Q

where does spinal cord end

A

L1-L2

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60
Q

weakness after anesthesia

A

nitrous oxide toxicity
seen in patients with underlying cobalamin (btwelve)deficiency
myeopathy, neuropathy, encephalopathy
can also be seen in anesthesiologists, dentists after longterm exposure to small amounts of NO

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61
Q

Hirayama disease

A

hirallamaneck-young Asian patients with progressive wasting of one or both hands and forearms. cervical cord thins with neck flexion

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62
Q

spinal cord abscess work up and most common organism?

A

MRI is very sensitive
CSF not so much, plus risk of spreading infection with LP

most common organism is Staph

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63
Q

relationship between zinc and copper deficiency

A

too much zinc –> copper deficiency

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64
Q

patient with diabetes, recent weight loss, developed back/hip pain that worsened at night, now has atrophy and weakness of pelvic girdle and thigh muscles. no patellar reflex

A

diabetic amyotrophy (a polyradiculoneuropathy)

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65
Q

radial nerve is a continuation of which cord? which nerve roots does it carry fibers from?

A

posterior cord
C5, C6, C7, C8 fibers

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66
Q

truck driver who has numbness/tingling from his wrist to 4th and 5th digits, normal strength. dx and tx?

A

mild compressive ulnar neuropathy at elbow
conservative management only

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67
Q

how does a severe ulnar neuropathy at/above elbow present?

A

fine motor probs - weak 3rd and 4th lumbricals, when asked to make a fist patient will make a claw hand because the 4th and 5th digits are too extended at MCP and flexed at IPJ

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68
Q

what’s important about sensation over the hypothenar eminence?

A

palmar cutaneous branch supplies sensation to hypothenar eminence

arises from ulnar nerve, PROXIMAL to Guyon’s canal. so sensation will be spared with an ulnar neuropathy at the wrist

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69
Q

weak foot dorsiflexion - what nerve?

A

deep peroneal nerve

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70
Q

weak foot eversion - what nerve?

A

superficial peroneal nerve

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71
Q

both weak foot dorsiflexion AND weak foot eversion

A

common peroneal nerve (involves both deep and superficial)

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72
Q

retroperitoneal hematoma can compress what nerve

A

femoral nerve in the intrapelvic region

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73
Q

involvement of iliacus and psoas tells you femoral nerve injury is where?

A

intrapelvic, NOT inguinal

iliacus and psoas are innervated by femoral nerve in the intrapelvic region, prior to reaching inguinal region

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74
Q

SNAPs in radiculopathies

A

NORMAL! because radiculopathy is proximal to DRG

if SNAPs are reduced, think plexopathy or peripheral neuropathy

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75
Q

posterior interosseous nerve palsy

A

pure motor nerve –> weak wrist extension in ulnar direction

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76
Q

weak forearm extension and absent triceps reflex

A

C7 radiculopathy

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77
Q

paraspinal fibrillations present

A

radiculopathy

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78
Q

iliacus muscle nerve roots

A

L2-L3

79
Q

quadriceps femoris nerve roots

A

L3-L4

80
Q

tibialis anterior nerve roots

A

L4-L5

81
Q

neuralgic amyotrophy (Parsonage Turner syndrome)

A

acute shoulder/arm pain after surgery/vaccination/viral illness which resolves and is followed by weakness

82
Q

when to EMG a patient with GBS, what findings to expect?

A

early, and repeat in 3 weeks if indicated.

EMG will show demyelination - prolonged distal latencies, slow conduction velocities, abnormal late (F) responses and H reflex, reduced amplitude of CMAP, conduction block

83
Q

painless arm weakness years after cancer treatment

A

radiation induced brachial plexopathy

can see myokymia on EMG

84
Q

Miller Fisher triad and antibody

A

ataxia, ophthalmoplegia, areflexia

Anti-GQ1b antibodies in 90%

85
Q

someone who does repetitive forceful pronation of forearm (work, golf) now comes in with deep ache in forearm and weak finger flexion, wrist flexion and thumb abduction. dx?

A

pronator teres syndrome

normal strength of pronator teres, but compression of median nerve as it passes between the 2 heads of pronator teres

86
Q

conditions that predispose people to carpal tunnel syndrome

A

diabetes, rheumatoid arthritis, chronic renal failure, amyloidosis, acromegaly, pregnancy, obesity, hypothyroid

ganglion cysts and neurofibromas can also compress

87
Q

painful, circumferential sensory loss in multiple nerve distributions, forearm weakness. happens after AV shunt placement for dialysis rarely

A

ischemic monomelia

88
Q

anterior interosseous nerve syndrome

A

pure motor branch of median
patients complain of weakness grasping things with pincer grasp, can’t make “ok” sign

innervates flexor digitorum profundus to 2nd and 3rd digits, flexor pollicus longus, pronator quadratus
no sensory loss

can occur with trauma, fracture, neurlagic amyotrophy

89
Q

old man with ataxia and tremor, some mental retardation runs in the family. MRI shows hyperintensity of inf cerebellar peduncle/cerebellum

A

Fragile X tremor-ataxia syndrome
X linked
typically the grandparent of a kid with Fragile X
CGG repeat in FMR1 gene
clinically resembles MSA

90
Q

spinal accessory nerve injury

A

can happen during radical neck dissection

weak SCM and trapezius - can’t turn head or shrug shoulder

91
Q

jugular foramen syndrome

A

compression of foramen magnum –> vagus nerve, glossopharyngeal nerve, and spinal accessory nerve affected

92
Q

MADSAM

A

Multifocal Acquired Demyelinating Sensory And Motor neuropathy

demyelinating neuropathy with conduction block
asymmetric motor and sensory sx
CSF protein high
no antibodies
tx steroids

93
Q

multifocal motor neuropathy antibody

A

anti-GM1

94
Q

numb over back of hand, due to tight handcuffs, watches, surgery

A

superficial sensory radial neuropathy

95
Q

pt with acute stroke, small fiber neuropathy, dark-purplish punctate lesions on trunk, dad had renal failure. dx? inheritance?

A

Fabry’s disease
Funky autonomics (and small fiber neuropathy), Angiokeratomas, BP, renal failure, y strokes

X linked
a-galactosidase A deficiency, lysosomal enzyme

96
Q

previously healthy patient now with myalgias, proximal weakness, eye puffiness and double vision. mildly high CK and eosinophilia.

A

trichinosis - ingestion of uncooked pork

mild gastro –> edema of eyelids, myalgias, ocular muscle weakness - can involve cardiorespiratory

tx: thiabendazole, albendazole

97
Q

nemaline myopathy - how does it present?

A

can be severe neonatal to adult-onset forms with proximal weakness, cardiomyopathy and respiratory compromise

genetically AND phenotypically heterogenous - can be AD, AR

98
Q

abnormal tilt table test

A

with upright posture, sustained hypotension (>20 mmHg SBP) with no tachycardia –> insufficient sympathetic tone and impaired baroreceptor function.

if hypotension is delayed for several minutes but then suddenly occurs with bradycardia –> neurocardiogenic

99
Q

acid maltase deficiency (glycogenosis type II)

A

AR
acid maltase deficiency (AKA a-1,4-glucosidase)
leads to glycogen accumulation

3 forms:
Pompe’s - infantile form, big tongue big heart big liver, hypotonic
childhood - big calves, motor delays
adult - proximal weakness, diaphragm weak

100
Q

you’redoinggreat

A

yougotthis

101
Q

glycogenosis type V

A

McArdle’s disease

102
Q

congenital myasthenic syndrome which responds to edrophonium

A

congenital acetylcholine receptor deficiency (most common form)

103
Q

congenital myasthenic syndrome that does not respond to edrophonium or pyridostigmine

A

acetylcholinesterase deficiency

dont have any ACHe to inhibit

104
Q

Emery Dreifuss muscular dystrophy

A

contractures at elbows, ankles, neck
muscle weakness of upper arms/shoulder, then later girdle and distal leg muscles
normal IQ
heart involvement! need pacemaker

can be due to emerin (X linked) or Lamin A/C (AD)

105
Q

AR condition with muscular dystrophy, brain and ocular abnormalities, diffuse brain abnormalities and white matter changes.

A

Walker-Warburg

(muscle eye brain similar but milder corticla changes, focal WM changes and less eye involvement)

106
Q

neonatal weakness, contractures, distal hyperlaxity, protrusion of calcanei

A

Ullrich’s CMD, collagen type VI gene

related to Bethlem

107
Q

cranial nerves involved in parasympathetic NS

A

3 - oculomotor
7 - facial
9 - glossopharyngeal
10 - vagus

108
Q

nerve roots that control parasympathetics of GU system and colon

A

S2-S4

109
Q

neurotransmitter in parasympathetic vs sympathetic

A

parasympathetic - acetylcholine (nicotinic)
sympathetic - mostly norepi (except sweat glands where Ach is released and acts at muscarinic receptors)

110
Q

localizing Horner’s syndrome - anhidrosis present on half of face

A

preganglionic (pre-superior cervical ganglion)
fibers to facial sweat glands travel along ECA

think Pancoast tumor, medullary infarction, thoracotomy

111
Q

localizing Horner’s syndrome - no anhidrosis

A

postganglionic

lesions to ICA like dissection

112
Q

myotonicdystrophy type 1 vs type 2

A

type 1 - distal myopathy

type 2 - proximal myopathy

113
Q

sympathetic innervation to bladder

A

intermediolateral cell column of spinal cord at level L1 and L2

114
Q

nerve roots that relay sensory afferent info from GU system, bladder, anorectal area to spinal cord

A

S2-S4

115
Q

Onuf’s nucleus

A

S2-S4, control of urethral and anal sphincters

116
Q

mediates the detrusor reflex of bladder

A

pontine micturition center

117
Q

voluntary control of micturition localizes where

A

medial frontal micturition centers in paracentral lobules

118
Q

Thomsen’s vs Becker’s disease

A

both are myotonia congenita

Thomsen’s is AD (presents in first 10 years of life), Becker’s is AR (presents in second decade)
chloride channelopathy
myotonia, warm up phenomenon

tx mexelitine

119
Q

AD condition p/w weakness + contractures of elbows and ankles, plus hyperextensible interphalangeal joints. Collagen VI mutation

A

Bethlem myopathy (remember Bethlem and Ullrich are collagen,Ullrichmoresevere,neonatal)

120
Q

weak finger flexors, but ok finger abduction with weak knee extension and lower extremity weakness

A

inclusion body myositis
males > 50
no assoc with cancer
inflammatory

121
Q

Nonaka myopathy

A

looks like inclusion body myositis on histopath(rimmedvacuoles) but is hereditary, not inflammatory
weakness is more distal

122
Q

orthostatic hypotension meds

A

pyridostigmine (incr ACh and acts at nAChRs at ganglia)

fludrocortisone (expands plasma volume and increases vascular alpha receptor sensitivity)

droxidopa (converts to NE)

midodrine (vasopressor)

123
Q

anti-SRP antibodies and statins

A

necrotizing myopathy
antibody assoc with statin use, but discontinuing statin doesnt help. treatment with immunosuppression

124
Q

innervation of rhomboids

A

dorsal scapular nerve!
arises from C5

chronic denervation can lead to intrascapular wasting

C5 lesion can also lead to weakness of ipsilateral diaphragm (phrenic nerve C3-C5)

125
Q

suprascapular nerve entrapment - causes, symptoms?

A

can occur in athletes or trauma (shoulder dislocation, scapular fracture)

poorly localizable shoulder pain, weakness of supraspinatus (abducts arm during first 30 degrees) and infraspinatus (externally rotates shoulder when elbow is flexed)

126
Q

long thoracic nerve injury

A

C5, 6, 7
scapular winging
(innervates serratus anterior)

scapular winging can also occur with rhomboid weakness

127
Q

thoracodorsal nerve - what cord? what muscle?

A

arises from posterior cord
innervates latissimus dorsi (adducts arm)

128
Q

obese man with diabetes presents with pain and patchy sensory/motor changes in thoracic and abdominal area

A

thoracoabdominal polyradiculopathy

usually unilateral, can be bilateral
thought to be ischemic radiculopathy

absent superficial abdominal reflexes and patchy sensory loss around T10-T12

129
Q

neurogenic thoracic outlet syndrome(roots?sx?)

A

compression of C8 to T1 with repetitive movements, as brachial plexus passes through scalene triangle

worse with arm abduction and external rotation

weak intrinsic hand muscles and sensory loss in C8-T1 distribution

medial ventral forearm sensory from C8
lateral forearm is T1

130
Q

HSAN Type I

A

Most common - AUTOSOMAL DOMINANT (only HSAN that is AD)
presents in young adulthood
Painful sensory symptoms - shooting pains in limbs
pain and temp loss > proprio/vibr
dont sweat - hearing loss

131
Q

HSAN Type II

A

AUTOSOMAL RECESSIVE
begins in infancy - the CCHMC girl who scraped her foot in the pool
generalized loss of sensation, insensitivity to pain
normal cognitive function
areflexia and retinitis pigmentosa
not a lot of autonomic symptoms

132
Q

HSAN Type III

A

Riley-Day syndrome, familial dysautonomia
“THREE BP” - prominent dysautonomia
AUTOSOMAL RECESSIVE!!! doesnt follow Sam’s rule
prominent autonomic symptoms in infancy - BP all over the place, dysphagia, vomiting, infections
emotion –> hyperhidrosis, skin flushing, HTN
but no crying
absent fungiform papillae on tongue (smooth tongue)

133
Q

HSAN Type 4

A

AUTOSOMAL RECESSIVE!!

congenital insensitivity to pain
cognitive delay
heat intolerance, lots of fevers but never sweat

134
Q

causes of mononeuritis multiplex

A

2+ nerves, acute/subacute, irregular intervals

vasculitic neuropathy - polyarteritis nodosa, Wegener’s, Sjogren’s, Churg Strauss, cryoglobulinemia, Lyme, HIV

less common causes - sarcoidosis, paraneoplastic, amyloidosis, leprosy, lupus, rheumatoid arthritis, lymphoma, diabetes

135
Q

cryoglobulinemia - symptoms and diagnosis

A

constitutional symptoms, palpable purpura, joint pain, big lymph nodes, big spleen/liver, peripheral neuropathy (mononeuritis multiplex)

can cause CNS stroke

assoc with Hep C (c for cryo), sometimes HIV , multiple myeloma, connective tissue disease

dx: protein precipitation with cold, decreased complement levels

tx: steroids, cyclophosphamide

136
Q

pain and redness of limbs with exercise and warm weather. otherwise healthy. dad with similar sx

A

primary erythromelalgia
AD
SCN9A gene –> hyperactive dorsal root ganglia

secondary causes include myeloproliferative d/o, lupus, autoimmune probs
distinguish from Fabry’s because Fabry’s will show small fiber neuropathy and will not be so episodic

137
Q

progressive sensory deficits that are not length-dependent, patchy and asymmetric. sensory ataxia and areflexia common but normal strength - what is it? work-up?

A

sensory neuronopathy (DRG affected)
B6 overdose, paraneoplastic (anti Hu in small cell lung), malignancy, Sjogren’s

diagnostic work-up: Schirmer’s test, SSA and SSB antibodies, lip biopsy to detect inflammation in small salivary glands. Also consider HIV, HTLV1, EBV, VZV, measles, etc.

138
Q

erb’s palsy

A

upper trunk lesion - common birth injury
waiter’s tip - arm adduction, internal rotation, forearm extention, pronation,

normal pronator teres, triceps, triceps DTR because C7 not affected (that would be middle trunk)

normal rhomboids means it’s not a root problem of C5/C6

139
Q

rhomboids affected

A

C5 C6 nerve ROOT

rootboids!

140
Q

how to tell L5 radiculopathy from common peroneal neuropathy

A

both cause foot drop

but NCS is key:
common peroneal –> abnormal superficial peroneal SNAPs
L5 –> normal superficial peroneal SNAPs(radiculopathies-normalNCS)

ALSO, involvement of tibialis posterior and flexor digitorum longus means L5 because those are innervated by tibial nerve and not common peroneal

141
Q

gluteus maximus

A

inferior gluteal nerve

142
Q

gluteus minimus and medius

A

superior gluteal nerve

143
Q

myotonic dystrophy inheritance

A

autosomal dominant (both types - Type I and II)

144
Q

myokymia assoc with…

A

radiation
GBS
intramedullary pontine tumor
demyelinating dz

145
Q

can’t make the “OK” sign, sensation intact

A

anterior interosseous nerve compression (median nerve branch)

146
Q

MRI of metachromatic leukodystrophy vs Krabbe disease

A

MLD - symmetric subcortical demyelination, corpus callosum and cerebellar WM changes

Krabbe - abnormalities in internal capsule, brainstem, small thalami and splenium, normal callosum signal

both will have tigroid appearance

147
Q

SMA Type 1 genetics (inheritance, gene, chromo)

A

AR
deletion/mutation of SMN1 on chromosome 5q
impaired splicing of precursor mRNA

148
Q

what 2 things are elevated in the Marfanoid syndrome with ectopia lensis and strokes? tx?

A

homocysteinuria
elevated homocysteine and methionine

tx low protein diet, pyridoxine (some forms are responsive)

149
Q

what % of NF1 cases are sporadic?

A

50% sporadic, 50% inherited

150
Q

palmitoyl protein thioeterase

A

infantile form of NCL
progressive motor dysfunction starting at 6 months, vision loss by 1 year

151
Q

most common MELAS mutation

A

MTTL1 gene encoding for mitochondrial tRNA

152
Q

NARP syndrome

A

mitochondrial heteroplasmic mutation
neurogenic muscle weakness, ataxia, retinitis pigmentosa, periph neuropathy

heteroplasmy of NARP = 70-90%
>90% = Leigh syndrome

153
Q

alpha-iduronidase mutation

A

Hurler’s!

154
Q

iduronate sulfatase deficiency

A

Hunter’s! - hunters have no SOULfatase

155
Q

DYT1 genetics

A

autosomal dominant - GAG deletion
TOR1A - torsin A protein affected
low penetrance - 30-40% of ppl with mutation will have phenotype

156
Q

myotonia congenita channel affected

A

chloride CLCN1

157
Q

low HDL, low total cholesterol, orange tonsils

A

Tangier disease
ATP cassette transporter mutation

158
Q

familial amyloid polyneuropathies - types 1-4

A

FAP type 1 - presents in 20s-40s - pain and Temp affected, dysautonomia

FAP type 2 - later onset, no dysautonomia, carpal tunnel syndrome

FAP Type 3 - heart, kidneys, liver involved, laryngeal dysfunction

FAP type 4 - cutis laxa - loss of skin elasticity and tone

159
Q

muscle eye brain vs Walker Warburg

A

muscle eye brain is less severe than Walker Warburg

Walker Warburg - severe retinal/eye malformations - microophthalmia, dysplasia, cataracts, optic atrophy
and more severe/diffuse brain changes

both are AR, WW on chromo 9 and MEB on chromo 1

160
Q

split hand phenomenon in ALS

A

intrinsic hand muscles affected more

APB and FDI
abductor pollicis brevis and first dorsal interosseous more involved (thenar eminence)

161
Q

the sound of fibs on EMG

A

regular repeating pattern
muscle continuously depolarizing itself

162
Q

sound of fasciculations on EMG

A

slow, irregular(sloooowertosayfasiculations)

more random than fibs

163
Q

man in 30s, weak upper arms then pelvic girdle then distal legs. cardiomyopathy. dx and genetics?

A

emery dreifuss syndrome
X linked version - emerin
AD version - laminin A/C
need pacemaker and PT

164
Q

distal hypermobility and protrusion of calcanei in a baby with contractures

A

Ullrich CMD
collagen mutation

165
Q

Klumpke’s paralysis nerve roots

A

C8-T1
rough delivery or rock climber/tree swinger

166
Q

calpain 3 deficiency

A

weak abdominals and hamstrings and scapular winging

AR

166
Q

calpain 3 deficiency

A

weak abdominals and hamstrings and scapular winging

AR

167
Q

first SMA treatment and MOA

A

nusinersen - antisense oligonucleotide (intrathecal)
alters the splicing of SMN2 mRNA to basically convert it to functional SMN1 protein

168
Q

the 2 other SMA treatments after nusinersen

A

onasemnogene abeparvovec (IV-administered adenovirus vector gene therapy )

risdiplam (oral small molecule modifier of SMN2 pre-messenger RNA splicing)

169
Q

Lab findings in POEMS syndrome

A

Polyneuropathy
Organomegaly
Endocrinopathy
M protein
Skin changes

labs: high VEGF, low EPO

170
Q

Most acquired neuropathies are what: axonal or demyelinating?
What are the 2 exceptions?

A

Most acquired are axonal

Exceptions: CIDP, MGUS

171
Q

Heavy metals that cause peripheral neuropathy

A

Mercury
Arsenic
Lead
Thallium

(MALT)

172
Q

Heavy metal causes wrist drop

A

Lead

173
Q

Which CMT are demyelinating

A

CMT1
CMT3
CMTX

CMT4 is both demyelinating and axonal

174
Q

Which CMT are axonal

A

CMT2

CMT4 is both axonal and demyelinating

175
Q

Onion bulb on nerve biopsy(not brain biopsy!)

A

CMT1A or CIDP

Demyelinating, remyelinating

176
Q

Baby with Palpable peripheral nerves, no reflexes, proximal hypotonia and onion bulb nerves on biopsy

A

CMT3 dejerine sottas

177
Q

Which CMT is AR

A

CMT4

It’s also axonal & demyelinating so it’s just kinda weird overall

178
Q

Fabry disease inheritance, gene, accumulate

A

X linked
A-galactosidase mutation
Globotriaosylceramide build up

179
Q

Refsum disease tx

A

Low branched fatty acids in diet

180
Q

SOD1

A

Familial ALS

181
Q

ALS meds and MOA (2)

A

Riluzole- glutamate inhibitor

Edaravone - free radical scavenger

182
Q

Multi focal motor neuropathy tx

A

IVIG

183
Q

TDP 43 inclusions

A

ALS

184
Q

Bunina bodies

A

ALS

185
Q

Most sensitive test for MG

A

Single fiber EMG —- > jitter

186
Q

50 Hz stim shows incrementation

A

Lambert Eaton MS

Also botulism

187
Q

MG with sparing of ocular muscles, prominent facial, bulbar, neck involvement

A

Anti MuSK

188
Q

3rd most common antibody in myasthenia

A

Anti- LRP4

(After MuSK and AchR)

189
Q

Striational antibodies

A

Myasthenia with thymoma

Anti-titin

Anti ryanodine

190
Q

Amifampridine

A

Same thing as 3,4- diaminopyridine (3,4 DAP)

Tx for LEMS
Blocks presynaptic K+ channels - let’s calcium for its thing

191
Q

DMD medication

A

Eteplirsen
Antisense oligomer - exon 51 - exon skipping of dystrophin mRNA

192
Q

Dysferlin mutation

A

Limb girdle muscular dystrophy

“dis for limb girdle”

193
Q

how to tell inherited vs acquired demyelinating neuropathy on NCS

A

temporal dispersion only seen in acquired demyelinating

no temporal dispersion or conduction block –> more likely inherited (only exception is Hereditary liabiliity Pressure Palsies has conduction block)

Neuromuscular (2 decks)

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