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Peds neuro boards, V2 > Neuromuscular > Flashcards

Neuromuscular Flashcards

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1
Q

Infantile neuroaxonal dystrophy

  1. what is it characterized by?
  2. Symptoms
  3. MRI findings
A
  1. Large axonal eosinophilic spheroids (from axonal swelling)
  2. Symptoms
    1. Normal development until ~9 months
    2. Hypotonia, weakness, hyporeflexia
    3. Progressis to spastic quadraparesis, optic atrophy, cognitive reression, and involuntary movements
  3. MRI: high iron content in BG > progressive cerebellar atrophy
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2
Q

Ullrich’s congenital muscular dystrophy: main features (4)

A
  1. Main symptoms
    1. Persistent global hypotonia
    2. absent reflexes
    3. proximal joint contractures
    4. distal joint hyperlaxity
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3
Q

Mechanism by which Statins can cause myopathy (2)

A
  1. Direct toxic attack on muscle
      1. Immune-mediated
    2. anti-HMG-CoA reductase antibodies
    3. Anti-SRP
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4
Q

Miller-Fisher syndrome

Antibodies to ____

Symptoms (3)

A
  1. Antibodies to GQ1B
  2. Symptoms
    1. Ataxia
    2. Areflexia
    3. opthalmoplegia
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5
Q

Herpes Zoster vasculopathy

Affected vessels
Clinical syndromes (6)

CSF findings (5)

A
  1. Large and small
  2. Clinical syndromes
    1. Stroke
    2. TIA
    3. Carotid dissection
    4. aneurysm
    5. SAH
    6. cerebral hemorrhage
  3. CSF findings
    1. Mononuclear pleocytosis
    2. oligoclonal bands
    3. elevated protein
    4. Normal glucose
    5. Normal protein
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6
Q

Most common extraocular muscle affected in myastenia gravis

A

Medial rectus

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7
Q

Percentage of patients with ocular-only MG who will eventually develop generalized MG

A

80%

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8
Q

Anderson Syndrome

Onset:

Timeline of attacks

Situation

Other features (3)

A
  1. Onset within first two decades of life
  2. Timeline: Occurs monthly, lasts for days at a time
  3. Situation: rest after periods of exercise (like hypokemic periodic paralysis)
  4. Other features
    1. Dysmorphic features
    2. long QT interval
    3. Ventricular arrythmias
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9
Q

Electrodiagnostic findings for radiculopathy

A

Dermatomal somatosensory evoked potentials

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10
Q

Diabetic Amyotrophy

Population (2)

Features (5)

Biopsy finding

A
  1. population
    1. DM II > DM I
    2. Unrelated to glycemic control
  2. Features
    1. Pain, weakness, and wasting of pelvifemoral muscles (MC thigh)
    2. Typically asymmetric but may affect contralateral side at some point
    3. minimal / absent sensory impairment
    4. Reduced / absent DTR
    5. Ankle jerk normal / slightly diminished
  3. Nerve biopsy features
    1. microvasculitis
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11
Q

Polymyalgia rheumatica

Onset

Features (3)

Associated disease

Diagnostic findings (4)

Treatment

A
  1. Onset after 50
  2. Can be seen in isolation or with patients with giant cell arteritis
  3. Features
    1. stiffness
    2. pain
    3. NO muscle weakness
  4. Diagnostic findings
    1. EMG = Normal
    2. Biopsy = Normal
    3. CK = normal
    4. ESR = elevated
  5. Treatment: Low-dose prednisone
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12
Q

Parsonage-Turner syndrome

AKA
timeline (2)
Most common affected nerves (5)
Prognosis

A
  1. AKA Neuralgic Amyotrophy
  2. Symptoms
    1. sudden-onset upper shoulder / girdle pain
    2. >>followed by weakness of 1+ brachail plexus nervesover 1 day to 2 weeks after onset
  3. MC affected nerves
    1. long thoracic
    2. suprascapular
    3. radial
    4. axillary
    5. anterior interosseus
  4. Prognosis
    1. pain usually resolves around time of onset of weakness, but strength recovery can take months to years
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13
Q

Oculopharyngeal muscular dystrophy

Inheritance
Common population
Mutation / Gene
symptoms (4)

A
  1. Mostly autosomal Dominant, rare early onset variant is AR
  2. Common among french canadian ancestry
  3. Mutation
    1. GCN repeat expansion in PABPN1 gene
  4. Symptoms
    1. Dysphagia
    2. Dysarthria
    3. ptosis
    4. Distal and proximal muscle weakness
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14
Q

Features (6) of diabetic peripheral autonomic neropathy

A
  1. Hyperthermia (most common early sign)
  2. skin color changes
  3. periopheral edema
  4. Pruritis
  5. aching / cramping
  6. dry skin
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15
Q

Features of Cardiovascular autonomic neuropathy

(6)

A
  1. Resting tachycardia
  2. Postural tachycardia
  3. Orthostatic hypotension / syncope
  4. exercise intolerance
  5. silent MI
  6. (late) fixed heart rate at 80-90
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16
Q

Features of genitourinary autonomic neuropathy

(4)

A
  1. urinary retention with overflow incontinence
  2. erectile dysfunction
  3. retrograde ejaculation
  4. decreased vaginal lubrication
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17
Q

mechanism behind malignant hyperthermia

A
  1. mutation in ryanodine receptor in skeletal muscle
  2. Excess calcium release from sarcoplasmic reticulum during muscle contraction
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18
Q

Multifocal acquired demyelinating sensory and motor neuropathy

AKA
Features (2)

Diagnostic findings (2)

Treatment

A
  1. AKA MADSAM or Lewis-Summer syndrome
  2. Features
    1. asymmetric motor and sensory loss affecting UE first
    2. multifocal Conduction block affecting distal limbs
  3. Diagnostic findings
    1. CSF protein normal, no pleocytosis
    2. EMG
      1. sensorimotor abnormalities suggesting demyelination and conduction block
  4. Treatment
    1. Steroid / IgG therapy
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19
Q

Muscle fiber characteristics

Type I

Type II

A
  1. Type I (“slow”)
    1. predominately aerobic / oxidative metabolism > more vascular
  2. Type II (“fast”)
    1. Higher rate of myosin ATPase hydrolesis (2-3x)
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20
Q

Monomeilic Amyotrophy

AKA
etiology
+ clinical features (4)
does NOT __(3)__

Helpful test (1) and findings (2)

A
  1. Hirayama disease
  2. etiology unknown
  3. Features
    1. typically teenage / 20’s males
    2. Slowly progressive painless weakness / atrophy in one arm (75%) or leg, typically distally
    3. Limited to few myotomes in one limb
    4. CL limb may be affected subclinically
  4. does NOT
    1. affect cranial nerves
    2. progress after 3-4 yeras
    3. have UMN signs
  5. Helpful test
    1. Flexion MRI of cervical spine
      1. would show engorgement of posterior epideural venous plexus
      2. +/- T2 signal in anterior horn
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21
Q

First muscle fiber type to atrophy with lack of use

A

Type 1

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22
Q

Centronuclear Myopathy

Inheritance
Gene
features
EMG findings (4)
Histopathology findings

A
  1. aka myotubular myopathy
  2. X-linked recessive
  3. MTMM1 gene (myotubularin)
  4. Features
    1. often fatal infantile hypotonia w/ respiratory failure
  5. EMG findings
    1. fibrillation potentials
    2. positive sharp waves
    3. complex repetitive discharges
    4. occasionally myotonic discharges
  6. Histology findings
    1. muscle fibers with central nuclei (below)
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23
Q

Anti-striated muscle antibodies are a helpful marker for ____

A

Thymoma in patients with early onset Myasthenia gravis (between ages 20 and 50)

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24
Q

Clinical features of Chronic inflammatory demyelinating polyneuropathy (6)

A

Features

  1. Duration >2 months
  2. Proximal and distal involvement
  3. weakness > sensory symptoms
  4. decreased or absent reflexes
  5. increased CSF protein w/o pleocytosis
  6. Improvement after immunomodulatory treatment
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25
Exclusionary criteria for chronic inflammatory demyelinating polyneuropathy (CIDP) (5)
1. Prominent sphincter disturbance 2. neuropathy due to other causes (including borrelia burdorferi) 3. drug / toxin exposure 4. diphtheria 5. multifocal motor neuropathy and/or IgM monoclonal gammopathy with AB to myelin-associated glycoprotein
26
Supercategories of Neuromuscular Disorders
27
anterior horn cell: Stimulated by \_\_\_\_, inhibited by \_\_\_\_
Stimulated by glutamate, inhibited by GABA / Glycine
28
Expected clinical findings of motor neuron diseases (4)
1. _Painless_ muscle weakness and atrophy 1. 50% of LMN are usually lost before weakness is clinically detected 2. Fasciculations and muscle cramps 3. Hyporeflexia 4. Hypotonia
29
Motor Neuron Disease: EMG Findings: sensory neuron action potential (SNAP) response compound motor action potential (CMAP) EMG
30
(benign condition) Trip-up for seeing fasciculations on EMG
Benign fasciculation syndrome 1. most cmmon in eyelids, arms, legs, and feet 2. NO pathologic findings on exam 3. Muscle cramping / pain _may_ occur
31
Treatment for bening muscle cramps by AAN
1. Quinine derivatives should be avoided for _routine use_ (can be considered on an individual trial) 2. Vitamin B complex, naftidrofuryl, and calcium channel blockers are _possibly_ effective.
32
EMG features: Fasciculations versus Fibrillations Fasciculations 1. What are they? 2. Associated with \_\_\_\_ 3. Buzz-word Fibrillations 1. what are they? 2. What do they indicate 3. Buzzword 4. when are they seen?
Fasciculations 1. spontaneous involuntary discharges of a single motor unit 2. associated with diseases of _anterior horn cell_ and _proximal root_ 3. "corn-popping" sound Fibrillations 1. spontaneous discharge of one muscle _fiber_ 2. indicates acute or active denervation 3. "rain on the roof" or "metronome" 4. Seen in 1. Neuropathic disorders 2. inflammatory myopathies 3. muscular dystrophies 4. botulism
33
EMG findings: Doublets / Triplets characteristically seen in \_\_\_\_
Tetany from hypocalcemia
34
ALS Onset / sex preference Features (5) Prognosis (2)
1. Onset / Sex preference 1. Onset typically in 60's, but can occur at almost any age 2. M:F 2:1 2. features 1. progressive, painless weakness 2. Spares eyes and bladder 3. Can involve bulbar muscles (nasal voice" 4. brisk reflexes 5. fasciculations (motor neuron disease) 3. Live expectancy 1. 3-5 years (median 36 months) 2. worse prognosis with bulbar symptoms
35
subtypes of ALS A (2) B (2) C (3)
1. Progressive bulbar palsy 1. Often menopausal women 2. poor prognosis 2. Primary lateral sclerosis 1. Pure UMN signs 4 y. after onset 2. slow progression 3. Progressive muscular atrophy 1. Pure LMN 2. men aged 64+ 3. longer survival time (48 months)
36
Familial ALS: 1. Percentage of all ALS cases 2. Mutations (3) 3. onset / sex 4. Clinical features (3) 5. mutation associated with rapid disease
1. 10% of all ALS cases 2. Mutations 1. SOD-1 (15-20%) AD 2. c9orf72 3. TARDBP (may have FTD features) 3. Clinical features 1. limb onset more common 2. more bulbar features 3. significant phenotypic variability, even within same family 4. Onset ~46 (10 years earlier than sALS) 5. A4V mutation associated with rapid disease course
37
Revised El Escrial criteria for ALS Definite (1) probable (2) probable, lab supported (2) Possible (3) Suspected (1)
1. Definite: 1. UMN and LMN signs in 3 regions 2. Probable 1. UMN and LMN signs in 2 regions 2. Some UMN signs _must be rostral_ to LMN signs 3. Probable, lab supported 1. UMN and LMN signs in 1 region OR 2. UMN signs alone in 1 region AND LMN signs defined by EMG in 2 limbs 4. Possible 1. UMN and LMN signs in 1 region OR 2. UMN signs alone in 2 regions OR 3. LMN rostral to UMN signs 5. Suspected 1. only LMN signs in 2+ regions
38
Diagnostic workup for ALS: EMG findings (2) Imaging (2) "routine" lab studies (7) "specialized: lab studies (2)
1. EMG / NCV 1. mortor NCV either _normal_ or _without demyelinating features_ 2. normal SNAPs 2. Imaging 1. Neuroimaging of brain + spinal cord (rule out compression) 2. CXR (r/o paraneoplastic from lymphoma-related MND associated with LAD; especially NHL) 3. Routine blood studies 1. CBC, CMP 2. ESR, CPK 3. TFT, PTH 4. RPR 5. B12 6. ANA, SPEP/IFE 7. CSF 4. "specialized" lab studies 1. GM1 abs (multifocal motor neuropathy) 2. Hexoseaminidase A (pt \<40; r/o tay-sachs
39
Medication approved for treatment for ALS
1. MoA 1. unknown, may block Na channels and prevent release of glutamic acid 2. Adverse effects 1. elevated LFT's 2. nausea 3. abdominal pain 4. HTN
40
AAN 2009 rec's for treatment of ALS 7
1. Riluzole should be offered (level A) 2. PEG tube considered to stabilize weight and prolong survival (level B) 3. NIV should be considered to treat respiratory insufficiency and lengthen survival (level B)Early NIV may increase compliance and insufflation / exsufflation may be considered to help clear secretions (Level C) 4. Considere multidisciplinary clinc referral (level B) 5. Botox can be considered for refractory sialorrhea (level B) as well as radiation (level C) 6. Dextrmethorphan + quinidine scan be considered for pseudobulbar effect (level C) 7. screen for cognitive impairment)
41
Adult-onset Tay-sachs Inheritance epidemiology note Onset Symptoms (3) Biopsy buzzword
1. autosomal recessive 2. frequently in ashkenazi jews 3. Onset \<40, but may show intention tremor in first decade 4. Features 1. _proximal_ weakness w/ fasciculations and atrophy 2. cerebellar symptoms (ataxia) 3. Psychiatric symptoms (50%) - manic-depression like d/o 5. Biopsy 1. pyknotic nuclear clumps
42
Post-polio syndrome Onset manifestations (3)
1. Onset years to decades after illness (8-71 years) 2. Features 1. typically in spinal / bulbar segments most severely affected by initial illness 2. can affect respiratory muscles 3. (rarely) can have UMN signs
43
SMA I, II, and III, for each: Gene Onset Motor Sx +/- Tremor life expectancy
For all: Survival motor neuron protein (chromosome 5)
44
Kennedy's Disease Inheritance mutation Neurologic features non-neurologic features EMG features (4)
1. X-linked recessive 2. CAG repeat dosrder of _androgen receptor_ 3. Neurologic features 1. facial fasciculations virutually pathognomonic 2. Proximal \> distal weakness 3. Tremor 4. (female carriers) cramps / fasciculations 4. Non-neurologic features 1. Gynecomastia 2. testicular atrophy 5. EMG features 1. Positive waves / fibrillations / fasciculations 2. large amplitude, long-duration, polyphasic MUAPs 3. _May have abnormal SNAPs_ (atypical for MND)
45
ALS mimics (3) and what can differentiate them
1. cervical myelopathy 1. may have LMN findings in arms and UMN findings in legs 2. **_Normal jaw jerk_** 2. Benign fasciculations 1. especially in young / anxious person w/ no other findings 3. Multifocal motor neuropathy with conduction block 1. no UMN findings 2. Evidence of conduction block 3. Can be associated with GM-1 Ab
46
How to distinguish sensory neuronopathies from sensory axonopathies
1. Ganglionopathies present in _non-length_ dependent manner 2. Sensory neuropathies are often patchy and asymmetric 3. Gait ataxia is common as a presenting feature in neuronopathies but _never_ presenting feature an axonopathies 4. Diminished joint position sense early ("pseudo-athetosis"; "piano hands")
47
EMG/NCS features of Sensory Neuron disease 1. SNAP 2. CMAP 3. EMG
48
Friedrichs ataxia Inheritance mutation onset Clinical features (9) MRI features
1. Autosomal recessive, GAA repeat on FXN gene (9q21.11) 1. only autosomal recessive trinucleotide repeat 2. Onset: 2-16 years 3. Features 1. UE \> LE 2. Dysarthria 3. nystagmus 4. trunkal / appendicular ataxia 5. absent DTR 6. axonal neuropathy 7. cardiomyopathy 8. DM 9. Scoliosis 4. MRI findings 1. Atrophic cerebellum, brainstem, posterior columns, and CST tract
49
Features typically associated with axonal loss (4)
1. _Symmetric__al, length dependent_ 2. Sensory typically before motor 3. (-) ankle reflexes 4. distal muscle loss often present
50
Trip-ups: Axonal neuropathies that can be asymmetric (3)
All are rare 1. mononeuropathy multiplex 2. variants of CIDP 3. Radiculopathy / entrapment neuropathy
51
EMG findings: Axonal neuropathy SNAP CMAP(3) EMG (4)
52
Feautres of this EMG finding (5) Grading
Positive waves 1. Spontaneous depolarization of a muscle fiber 2. signify active denervation 3. reglar pattern 4. "dull pop" 5. knife-like appearance Grading * 0: none * 1+: persistent in single trains (\>2-3 seconds) in at least 2 areas * 2+: moderate number or potentials in 3+ areas * 3+: many potentials in all areas * 4+: full interference pattern (trauma, vasculitis, infarction)
53
EMG: Motor Unit Action Potential (MUAP) | (visual aid)
1. Duration reflects number of muscle fibers iwthin a motor unit 1. from initial reflection to time it returns to baseline 2. Normal 5-15 milliseconds 3. Longer duration occurs with number of reinnervation
54
Common gene mutations associated with length-dependent polyneuropathy (3)
1. CMT1A dupication / HNPP deletion 2. CX32 3. MFN2
55
Abetalipoproteinemia Inheritance Gene Features (4)
1. Inheritance (AR) 2. mutation: MTTN gene 3. Features 1. opthalmoplegia 2. pigmented retinopathy 3. acanthocytosis 4. progressive ataxia
56
Features of _toxic_ neuropathies Most common exposure Features of neuropathy
1. Most common exposure: Fumes 2. Features 1. _multifocal_ neuropathy (wrist drop or foot drop) 2. GI / psych disturbance 3. burton lines: bluish pigmentation at gum line 3.
57
Strachan syndrome and related disorders AKA Features (4)
1. "tropical myeloneuropathies" due to mulifactorial nutritional difficulties 2. Features 1. Spinal cord lesion and axonal sensory \> motor neuropathy 2. severe burning pain in palms of hands and soles of feet 3. Skin changes 4. (less common) retrobulbar neuritis
58
paraneoplastic Ab's (3) and non-malignant autoimmune dz (3) associated with sensory neuronopathy
1. Paraneoplastic 1. Anti-Hu 2. ANNA-1 3. +/- CRMP-5 2. Autoimmune 1. sjogren's disease 2. Chronic autoimmune hepatitis 3. MGUS 1. high IgM 2. may be associated with anti GD1b
59
Non-0Chemo Drugs commonly associated with neuropathy (5)
1. Isoniazide (preventable with B6 supplementation) 2. Metronidazole 3. Nitrofurantoin 4. Chloroquine / hydroxychloroquine 5. Lithium
60
Dystproteinemic neuropathies 1. % of patients with peripheral neuropathy with monoclonal gammopathy 2. Most common Ig subtype 3. Specific disease associations with certiain Ig subtypes: 1. IgM Kappa (2) 2. IgG \> IgA 3. Lambda (2)
1. 5-10% (though may not be associated with neuropathy) 2. Most commonly associated with IgM (though igG and IgA are commonly found) 3. Associated Ig subtypes 1. IgM kappa: 1. MGUS 2. Waldenstrom macroglobulinemia 2. IgG\>IgA 1. multiple myeloma 3. Lambda 1. POEMS (almost always) 2. AL amyloidosis
61
Distal acquired demyelinating syndrome associated with MGUS (DADS-M) Typical Ig subtype Features (3) Ab note EMG note Treatment note
1. Typically IgM-Kappa 2. Features 1. slow/insidious sensory loss and gait imbalance 2. minimal pain 3. intention tremor 3. AB note: 50% have Ab to MAG 4. EMG note: Very prolonged distal latencies 5. Poor response to IVIG and steroids
62
Primary Symmetric Amyloidosis What is it / mechanism (2) general rule about when to consider Features (7) pathology
1. What are they? 1. group of disorders resulting from extracellular deposition of amyloid 2. AKA "AL" \> light chain protein misfolds and forms beta-pleated sheet \> organ dysfunction 2. Consider in any patient w/ peripheral neuropathy and prominent autonomic features, particularly with _no_ hx of diabetes 3. Features 1. Typically male (2/3) \> 60 years old 2. Fatigue / weight loss 3. Peripheral neuropathy 4. nephrotic syndrome / renal failure 5. hepatomegaly 6. CHF 7. Autonomic neuropathy w/ prominent orthostatic hypotension 4. Pathologic hallmark 1. congo-red stained deposits = **_apple green birefringence_**
63
Familial amyloid polyneuropathy Inheritance Features (5) treatment
Inheritance: AD (for most common type, TTR-related FAP) Features 1. Small-fiber neuropathy w/ autonomic features 2. carpal tunnel is common 3. cardiac dysfunction (arrythmia, heart block, heart failure) 4. vitreous involvement 5. renal involvement Treatment: liver transplant
64
Characteristics of Demyelinating neuropathies Type of neuropathy (2) Pathologic findings and results (1) Clincial clues (4)
1. Segmental demyelination 1. Implies injury of either myelin sheath or schwann cells 2. Axons are _spared_ 2. Pathologic findings 1. "onion bulb" resulting remyelination of multiple layers of schwann cells around Axon 3. Clinical clues 1. early, generalized loss of reflexes 2. Disproportionately mild muscle atrophy in presence of both _proximal_ and _distal_ weakness. 3. neuropathic tremor 4. palpably enlarged nerves (possibly)
65
EMG findings of Demyelinating neuropathies
1. Markely slow conduction velocities 1. Arms \<35 m/s 2. Legs \<30 m/s 2. Prolonged distal latencies (\>130%) 3. (Acquired) conduction block and temporal dispersion (inherited does not)
66
GBS Clinical features
1. Ascending paralysis 2. Sensory level should NOT occur (if present, think transverse myelitis) 3. weakness follows sensory disturbance 4. Areflexia 5. Autonomic dysfunction 6. bowel and bladder usually spared
67
Anscillary studies for GBS
1. CSF 1. albuminocytological dissociation with few or no mononuclear cells 2. If WBC \> 10 think about lyme, HIV, sarcoid, and polio 2. Abs 1. GM1 Abs (correlate with c. jejuni infection) 2. GQ1b (Miller fisher variant)
68
(Table) EMG/NCV results for demyelinating neuropathies SNAP CMAP EMG
Nerve conduction studies can be normal for the first few days
69
Demyelinating neuropathy subtypes: AMAN % of cases Clinical features separating it from "typical" demylinating disease (2) Abs (3)
1. 10-20% of cases 2. Unique clinical features 1. Rapidly progressive weakness often with respiratory failure 2. _DTR's may be preserved or exaggerated_ 3. Abs 1. GQ1b 2. GD1a 3. GD1b
70
Demyelinating disease subtypes: Pharyngeal-brachial-cervical Unique clinical features from "typical" demyelinating d/o Ab
1. may mimic Myasthenia Gravis 2. Ab: Gt1A
71
AAN recommended treatment for GBS
1. PLEX 1. non-ambulant patients with GBS if within 4 weeks of symptom onset 2. ambulant patients within 2 weeks of symptom onset 2. IVIG 1. non-ambulant patients within 2-4 weeks 3. Intubation critea 1. VC \<15-20 mL/kg (or \<30% baseline) 2. PO2 \<70 mmHg 3. oropharyngeal weakness
72
Tick Paralysis in what population should it be considred exclusionary features population more susceptable
1. anyone with potential tick exposure with acute, rapidly progressive (\<24 hours) flaccid paralysis or ataxia 2. No Sensory or bladder dysfunction 3. More common in children (smaller body mass relative to toxin exposure?)
73
Diptheric Neuropathy Percent of diptheria patients affected Clinical features (4) Diagnosis (4) treatment (2)
Percent of diptheria pts: 20-27% Clinical features 1. Oropharyngeal and diphragmatic weakness 5-8 weeks after infection 2. Demyelinating sensory-motor polyneuropathy (trunk and extremities) 2-3 months after infection 3. **_Descending_** 1. bulbar / respiratory weakness before limb weakness 4. autonomic dysfunction (including urinary retention) Diagnosis 1. Isolation of *C diptheria* 2. CSF 1. mildly elevated WBC 2. Elevated protein 3. Demyelinating features on EMG Treatment 1. penicillin (acute) 2. supportive
74
Porphyrias: Inheritance Neuropathy features (3) other clinical features (4) Triggers (8) Diagnosis Treatment
Inheritance: 1. mostly AD (including AIP which is most common type) Type of neuropathy 1. Polyneuorpathy 1. usually proximal 2. can be bulbar 3. Finger / wrist extensors often involved (don't get tripped up for lead toxicity!) other clinical features 1. acute attacks = abdominal pain with uncommon but characteristic change in urine color 2. Seizures (15%, likely due to hyponatremia) 3. Cognitive / behavioral changes (shouldn't occur in GBS) 4. Hypertension / tachycardia Triggers 1. drugs (p450 inducers) 2. anesthetics 3. steroids 4. severe fasting 5. stress 6. infections 7. smoking / EtOH 8. AEDS (contraindicated) 1. VPA 2. CBZ Diagnosis: urinary porphobilinogen Treatment: IV Heme, IV dextrose, Propranolol (for HTN)
75
(table) Features of ascending weakness
76
Treatment for CIDP (6)
Steroids, either: 1. High dose steroids tapered over 3 months 2. pulsed methylprednisolone 1g/day for 3 days, then 1 g/d QD IVIG Others to consider 1. azathioprine 2. cyclosporine 3. methotrexate 4. rituximab
77
Multifocal motor neuropathy Features (2) Disease often confused with MMN and what separates it Associated Ab finding Treatment
Symptoms 1. Slowly progressive multifocal muscle weakness (clinically disporportionate to) + atrophy 2. UE \> LE, distal \> Proximal Often confused with ALS (difference is MMN has NO UMN findings) AB: anti-GM1 ab at high titers (note can be present in low titers with ALS) Treatmetn: IVIG
78
Vasculitic Neuropathies Clinical features (2) Diagnostic buzzword Treatment (2)
Clinical features 1. often associated with other organ systems 1. weight loss, fatigue, arthralgias 2. Acute / subacute mononeuropathy or multiple mononeuropathies (mononeuropathy multiplex) Other diagnostic finding 1. Neves appear enlarged and hypoechoic on ultrasound Treatment 1. steroids 2. cyclophosphamide
79
Primary Vasculitides
80
CMT (1A and 1B) ``` Typical age range clinical presentation (5) ``` Mutations and chromosome
1. Age range = 1st - 3rd decade 2. Symptoms 1. Distal weakness 2. anterior compartment involvement = foot drop) 3. High arched feet (pes cavus) 4. hammertoes 5. inverted champaign bottle legs 6. (-) ankle jerks 7. Steppage gait 8. If essential tremor = Roussy-Levy syndrome 3. Mutations 1. CMT1A: PMP-22 duplication (CH17) (AD) 2. CMT1B: myelin protein zero (MPZ) (AD)
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Hereditary neuropathy with tendancy to pressure palsy Inheritance / Mutation onset clinical features nerve Buzzword
1. AD, PMP-22 **deletion** (not duplication, as in CMT-1A 2. Onset: adolescence / early adulthood 3. Features 1. recurrent mononeuropathies (painless numbness / weakness) 2. may be preceded by minor compression or trauma 3. Elbow, wrist, spiral groove, fibular head
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CMT type 2 inheritance / mutation Differences compared to CMT 1
Inheritance: AD (MFN2 gene) Features different from CMT1 1. presents later in life 2. axonal, not demyelinating (NCV \> 35 m/s) 3. less severe involvement of hand muscles, but more involvement of distal legs 4. generalized areflexia is uncommon 5. less likely to have tremor, pes cavus, or hammertoes
83
Refsum disease Inheritance Features (4) diagnosis treatment (3)
1. Inheritance: autosomal recessive 2. features 1. retinitis pigmentosa 2. night blindness 3. sensorimotor demyelinating polyneuropathy 4. cerebellar ataxia 5. +/- hearing loss 6. +/- cardiac involvement 3. Diagnosis 1. Serum phytanic acid 4. Treatment 1. lifelong avoidance of phytanic acid in food 1. dairy products 2. ruminant meats 2. lipid apheresis
84
Tetanus Pathogenesis (3) features (4) treatment (1)
Pathogenesis: 1. Retrograde axonal transport following wound innoculation 2. Transport same rate (short affected faster, may explain cranial-caudal presentaiton) 3. Blocks release of inhibitory transmitters glycine and Gaba Clinical features 1. 1-2 weeks after exposure, over 3-6 days 2. Trismus / risus sardonicus 3. opisthotonus 4. hyersympathetic state Treatment 1. human tetanus immunoglobulin
85
Stiff Person syndrome progression epidemiology note Clinical features (4) diagnosis (2) treatment (6)
1. Progresses over months to years 2. Women \> Men 3. Symptoms 1. fluctuating, progressive muscle stiffness and painful spasms of trunk 2. neck / paraspinals / abdomen 3. lordosis 4. worse with activty and stimuli 4. Diagnosis 1. EMG - continuous activity during wakefulness, abolished during sleep 2. ABS: anti GAD-65 (70%) 5. Treatment 1. diazepam 2. klonopin 3. vigabatrin 4. VPA 5. baclofen 6. +/- Plex
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Botulism Toxin Presentation (6)
Presentation 1. Cranial - caudal distribution 2. 2-36 hours = oculobulbar weakness 1. blurred vision, diplopia, dysarthria, dysphagia 3. descending weakness 4. autonomic dysfunction 1. dry mouth, constipation, hypotention, urinary retention 5. reflexes preserved (_except pupils_) 6. repetitive stim shows mild fasciculations
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Lambert Eaton Treatment (3)
1. Tumor removal (if present) 2. 3-4 diaminopyridine 3. pyridostigmine
88
Neuromyotonia Clinical symptoms
Clinical symptoms 1. Think "reverse stiff-person syndrome" 1. distal \> proximal, limbs \> trunk 2. Worse with activity 3. continuous muscle twitching that _persists during sleep_ 4. prominent sweating 5. weight loss is common EMG findings 1. High-frequency trains (sounds like pinging) 2. after discharges (due to delayed muscle relaxation)
89
Production and metabolism of acetylcholine Substrates enzymes Products
90
Drug / toxic drugs on neurmuscular junction Tetrodotoxin magnesium botuluninum Tick paralysis B-bungartoxin lathrotoxin scorpion venom poisoinous mushrooms Curare
1. Tetrodotoxin 1. Pufferfish: Blocks Na channels 2. Magnesium 1. blocks Ca2+ release 3. Botulinum 1. blocks Ach release 4. tick paralysis 1. (probably) blocks Ach release 5. B-Bungartoxin 1. blocks Ach release 6. Lathrotoxin 1. Black widow: causes excessive release of Ach 7. scorpion venom 1. causes ach release 8. Mushrooms 1. blocks achetylcholine esterase 9. Curare 1. binds nicotinic acetylcholine receptors
91
Key points differentiating Tick paralysis from GBS (4)
Tick paralysis is hours to days (GBS = days - 2 weeks) Tick paralysis has NO sensory symptosm (GBS has mild / present) Tick paralysis has normal protein (GBS elevated) Tick paralysis recovers 24 hours after tick removal (GBS = weeks / months of recovery)
92
MUSK myasthenia What population? Pathologic result of antibody Unique symptoms / difference from regular MG (4)
1. Responsible for 20-70% of "seronegative" myasthenia 2. Ach receptors fail to cluster \> spread out along length of muscle fiber \> ineffective NMJ transmission 3. Unique symptoms 1. typically women \< 40 2. sevre bulbar symptoms 1. particularly tongue atrophy ("scalloped tongue") 3. disporportionally affeccts neck, shoulder, and respiratory nuscles 4. less likely to have thymic hyperplasia and rarely thymoma
93
Causes of drug-induced myasthenia (6)
1. D-penicillamine 2. curare 3. aminoglycosides 4. quininie 5. procainamide 6. Calcium channel blockers
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"gold standard" EMG test for myasthenia
Single-fiber EMG, tyipcally at frontalis muscle
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Treatment for Myasthenia gravis
1. Pyridostigmine 1. use caution with asthma 2. prednisone 1. for moderate - severe generalized / bulbar weaknes 3. azathioprine 1. moderate - severe 4. mycophenolate mofetil (perhaps no clear benefit) 5. cyclosporine 6. cyclophosphamide
96
Intubation criteria for Myasthenia GBS
Myasthenia (make to stop anti-cholinesterase medication due to it worsening bronchial secretions) 1. VC \<20 mL/kg 2. NIF \<30 cm H20 3. peak expiratory \< 40 cm H20 GBS 1. VC \<15-20 mL/kg 2. PO2 \<70 mm HG
97
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Clinical features of Myopathies
1. myopathy = **muscle weakness** 2. difficulty arising from chair 3. +/- waddling gait 4. strenght ideally does not fluctuate
99
Labs to order in myopathies Common (5)
1. CK 2. LD 3. Aminotransferase 4. choline-esterase 5. phosphatases
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``` Myopathies with: Normal CK (4) elevated CK (4) ```
Normal CK 1. steroid myopathy 2. hyperthyroid myopathy 3. mitochondrial myopathies 4. channelopathies Elevated CK 1. dystrophinopathies 2. myoshi distal myopathy 3. Rhabdo / malignant hyperthermia / Neuroleptic malignant syndrome 4. Polymyositis
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Differentiating Myopathy from Neuropathy on histology Muscle / fiber size nuclei necrosis / phagocytosis connective tissue fiber-type changes | (table)
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Emery-dreifuss muscular dystrophy Key clinical features (5)
Key clinical features 1. joint contractures 2. wasting of 1. upper arms 2. shoulder girlde muscles 3. anterior compartment of leg 3. Cardiac involvement (60%)
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Facioscapulohumeral dystrophy Inheritance notes (6) Clinical features (6)
Inheritance: 1. Most common (FSHD) form is autosomal dominant 1. D4Z4 gene (ch 4) 2. anticipation 2. FSHD 2 = digenic 1. SMCHD1 (Ch18) 2. "permissive" chromosome 4 Clinical features 1. facial weakness (fascio) 2. scapular winging (scapular) 1. characteristically spares deltoids and forearms 2. "popeye" appearance 3. Mouth may have puting quality ("bouche de tapir") 4. LE weakness, especially with dorsiflexion 5. Vascular retinal degeneration (coat's disease) 6. Deafness
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Limb-Girdle Muscular dystrophy Inheritance (2) Clinical features suggestive lab feature
Inheritance 1. AD (type 1) 2. AR (type 2) Features 1. early childhood and debilitating 2. pelvic and shoulder girldle weakness Suggestive lab feature: markedly elevated CK
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Subtypes of Limb Girdle muscular dystrophy (table)
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"noisy myopathies" Conditions associated with myotonic discharges (9)
1. Myotonic dystrophy 2. myotonia congenita 3. paramyotonia congenita 4. Myopathies 1. Acid maltase deficiency 2. polymyositis 3. myotubular myopathy 5. hyperkalemic periodic paralysis 6. colchicine myopathy 7. cyclosporine toxicity
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Myotonic Dystrophy Type 1 Inheritance gene / mutation features(6)
1. Autosomal Dominant 2. CTG repeat of DMPK gene (ch 19) Features 1. "hatchet face" 1. temporal wasting 2. frontal balding 2. Cataracts \<50 y.o. 3. distal weakness 4. Grip and percussion myotonia 5. Cardiac complications
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Myotonia congenita General 1. Disorder of \_\_\_\_ 2. pathogenesis 3. Features common to both (3) Type 1 1. Inheritance 2. Features (2) Type 2 1. Inheritance 2. Features (4) symptomatic treatment for each (3)
General 1. Disorder of chloride-channels 2. ClCN1 on CH 7 3. Features common to both 1. "rusted tin man" after prolonged sitting 2. "loosens up" after repetitition and strength normalizes 3. worse with cold or stress Type 1: Thomsen 1. Autosomal dominant 2. milder form 3. may have normal strength Type 2: Becker 1. Autosomal recessive 2. More severe, younger onset (4-12) 3. pronounced muscle hypertrophy ("herculean") 4. however, more significant weakness Treatment for both 1. quinine 2. mexiletine 3. DPH/CBZ
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Myofibrillar Myopathy Features (5) Histopathologic finding
Features 1. distal onset (hands and feet), slowly spreads to involve trunk, neck, facial / bulbar, and respiratorymuscles 2. Flexors more than extensors 3. Cardiac involvement (cardiomyopathy, conduction block, arrhythmias) 1. may need inplantable ICD 4. Respiratory weakness 5. sensorimotor neuropathy can also be presnt Histopathologic finding 1. muscle biopsy: amorphous or granular material with focal areas of myofibrillar disintegration
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Myophosphorylase deficiency AKA inhertiance Mutation Characteristic features (2) important diagnostic tests (2)
1. Autosomal recessive 2. disorder of skeletal muscle myophosphorylase (PYGM gene) 3. AKA McArdle's disease 4. Features 1. exercise intolerance and pain shortly after starting exercise 2. pain with muscle stretching 3. Improves with rest (second wind phenomenon) 5. Diagnostic finding 1. EMG electrically silent (compared to active during muscle cramps) 2. ischemic test fails to show rise in lactate ofter repetitive exercise
111
Carnitine palmityl transferase deficiency What does the enzyme do? Clinical features (5)
1. enzyme helps transfer fatty acids across mitochondrial membrane 2. Clinical features 1. Classic: myogloninuria after forced march and no breakfast in the military 2. Other triggers 1. cold 2. ibuprofen 3. diazepam 4. general anesthetics
112
Kearns-Sayer Syndrome Inheritance onset Features (8)
1. Mitochondrial 2. onset: \<20 3. Features 1. progressive external opthalmoplegia 2. retinitis pigmentosa 3. short stature 4. sensorineural hearing loss 5. dementia 6. ataxia 7. decreased ventilatory drive 8. multiple endocrinopathies
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Progressive external ophthalmoplegia Features (2) How it's different from KSS how it's different from MG
Features 1. MG-like presentation with ptosis and ophthalmoplegia How it's different than KSS 1. No retinitis pigmentosa 2. No cardiac abnormalities How it's different than MG 1. no diplopia
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Dermatomyositis Immunologic note Features (5) Associated diseases EMG findings (3) Antibodies (3)
CD4 predominant Features 1. Muscle weakness 1. proximal 2. painful 2. purplish skin rash 1. cheeks and eyelids ("butterfly and blanches" 2. Chest and below neck ("shawl sign") 3. Grotton's sign (reddened, indurated appearance over elbows, knees, and knuckles) Associations 1. Carcinomas (breast, lung, ovarian, gastric) EMG 1. small polyphasic units with increased insertional activity 2. positive waves 3. fibrillations Antibodies 1. Jo-1 (associated with interstitial lung disease) 2. Anti-Mi2 3. anti-SRP
115
Polymyositis Immunologic note Clinical features (5) Diagnostic findings (4)
CD8-predominance Clinical features 1. _painless_ muscle weakness 2. women 40-60 3. may be associated with viral prodrome (malaise, fever, anorxia) 4. Ocular / bulbar mucles usually spared 5. +/- dysphagia Diagnostic findings 1. CK significantly elevated (~100x) 2. EMG 1. small amplitude, brief, polyphaisc motor units 2. fibrillations 3. positive waves
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_Inclusion body myositis_ Epidemiology notes (2) features (3) Diagnosis (3)
1. Epidemiology note 1. Most common myopathy in patients \>50 y.o. 2. Male \> female 2. Features 1. distal weakness 1. deep finger flexors (ulnar / Flexor policis longus) 2. quads 3. tibialis anterior (dorsiflexion) 2. +/- facial weakness 3. atrophy **without** fasiculations or hyperreflexia 3. Diagnosis 1. EMG: prominent spontaneous activity with early recruitment 2. Biopsy: 1. rimmed vacules and inclusion bodies 2. endomysial inflammation w/ increased variation and fiber size and fiber hypertrophy
117
Causes of secondary hypokalemic periodic paralysis (4)
1. thyrotoxicosis 2. kidney / renal failure 3. RTA 4. licorice (particularly black licorice)
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Thyrotoxic Myopathy * Onset * Features (5) * CK * associated condition Hypothyroid myopathy * Clinical features
Thyrotoxic myopathy 1. Onset: usually 5th decade 2. Features 1. proximal muscle weakness and atrophy several months after thyroid sx 2. hyperreflexia 3. fasciculations 4. myokymia 3. CK is normal versus mildly elevated 4. Associated condition: hypokalemic periodic paralysis Hypothyroid myopathy 1. Clinical features 1. delayed relaxation of reflexes 2. myoedema (painless and electrically silent mi=ounding of muscle tissue when percussed) 2. CK : 10-100x normal 3.
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Older patient with distal weakness, and atrophy with _no_ fasciculations or hyperreflexia. Rimmed Vacuoles Endomysial inflammation w/ fiber heterotrophy
Inclusion body myositis
120
EMG criteria for Myasthenia gravis
\>10% electrodecrimal response to to repetitive nerve stimulation
121
Infectious cause of peripheral neuropathy in immunocompromised patients
CMV
122
Diseases which could show "sparing of the U fibers"on MRI (6)
1. metachromatic leukodystrophy / adrenaleukodystrophy (probably most common) 2. Krabbe 3. PKU 4. MSUD 5. Lowe's disease 6. Hypohomocysteinemia
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Forearm ischemia test: Normal results and what disease does this NOT exclude? Low Lactate Low Ammonia
1. Normal results 1. Rise in lactate 2. Rise in Ammonia 3. Carnitine Palmitoyltransferase deficiency 2. Low lactate = 1. McArdles 2. Tauri's 3. Low Ammonia = Myoadenylate deaminase defiency
124
Diffuse weakness, Early contractures of hip knee and ankle, intellectual disability, seizures Mutation, in heritance, and seizures What else would you see? What would you see on MRI?
Fukuyama type congenital muscular dystrophy 1. Autosomal recessive mutation in fukutin (chromosome 9) 2. Features 1. Diffuse weakness 2. early contractures of hip, knee, ankle 3. intellectual dysability 4. seizures 5. skull asymmery 6. cerebral malformations 1. cobblestone cortex (nodular appearance of gray matter) 2. loss of gray matter lamination 3. frontal white matter changes
125
Differentiate between the type 1,2,3 and 4 of HSAN
Hereditary Sensory and autonomic neuropathy 1. Motor symptoms (weakness / atrophy) think HSAN1 (AD) 2. Recurrent infections, relatively mild autonomic symptoms, think HSAN2 (AR) 3. Significant autonomic problems (crises, hyperhydrosis / hypertension, flushing), think HSAN3 aka Rikey-Day syndrome (AR) 4. HSN4 = congenital insensitivity to pain with anhydrosis (CIPA) more commonly can present with hyperthermia, microcepahly
126
Patient with history of HCV presents with palpaple purpura, arthritis and weakness. Found to have cold-agluttinins What labs would you expect? How would you treat
Mixed Cryoglobulinemia type 2 Labs: * Decreased C4 * Decreased total compliment (CH50) Treatment * Treat underlying disease * Rituximab
127
Patient presents with painless atrophy of hip flexors, finger flexors, and Quads, as well as trouble swallowing. What would you see on: swallow study EMG CK Biopsy
Inclusion Body Myositis * Swallow study = esophageal dysmotility * EMG = mixed neuropathic / myopathic changes * CK = normal to slightly elevated CK * Patholgy * Rimmed vacuoles * Granular material (including B-Amyloid)
128
Patient admitted for SIRS has a \_\_\_\_% risk of developing this specific myopathy What is the EMG finding?
Critical Illness Polyneuropathy = 70% EMG findings: * Reduced CMAP * reduced SNAP * Fibrillation potentials and positive sharp waves * NO problems with conduction velocoties
129
patient presents with headaches and jaw pain exacerbated by chewing and exposure to cold. What is her biggest risk (and what percent) if untreated? Name 4 non-neurologic symptoms she could also have
Biggest risk is permanent vision loss (20-50%) if untreated Other features Polymyagia rheumatica anorexia / weight loss Fever leg claudications
130
what is the mechanism by which Myasthenia causes it's symptoms
anti-AChR antobodies at Neuromuscular junction activate complements to destroy receptors and reduce number at NMJ
131
30 year old male with presents with weakness and atrophy (proximal \> distal), tremor, and fasciculations in face and hands. What would you expect later in the disease course (4)? Who else in the family would you NOT expect to see this in and why? What else is important about the genetics of this condition?
Kennedy's disease (x-linked spinobulabr muscular atrophy) Early in course: * Males typically present in 4th decade * proximal leading to distal muscle weakness with atrophy and hyporeflexia * Tremor, cramps and _fasciculations_, particularly of _face and peri-oral area_ Later in course * Bulbar symptoms * gynecomastia * endocrine issues (DM, hypogonadism) Would NOT expect to see in females due to X-linked recessive condition (only women who would get this would be through x-inactivation) Trinucleotide repeat (CAG) of **androgen receptor**
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Based on this pathology What is the mutation and chromosome? Characteristic features What non Neuromuscular syndrome are they at risk of?
Central Core myopathy * Mutation in RYR gene, 19q13.1 * Somewhat variable, but predominately proximal weakness) * NOT affected: * Bulbar * respiratory
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Patient with DM 2, COPD, and stroke. Mildly elevated CK
Inclusion body myositis Biopsy shows: mononuclear cell infiltrates in non-necrotic fibers sarcoplasmic vacuolated fibers Myofiber degeneration regeneration, necrosis variability of fiber size (may also see amyloid deposits)
134
Child with long eye lashes, coarse, kinky hair, gait disturbance, and frequent falls What is the inheritance? name (5) other features
Giant axonal neuropathy Mutation in GAN gene (16q24.1) (autosomal recessive) * Features * cerebellar ataxia with progresssive gait deterioration * dysmetria * nystagmus * spasticity * optic atrophy * Biopsy * Defect in intermediate filament organization * Giant axons (duh) * densely packed neurofilament bundles
135
Patient prsents at age 20 with weakness of calves What protein is likely defective? What should he expect about 10 years later?
"diamond on quadrdiceps sign" when sitting Limb-girdle Muscular dystrophy type 2B (defect in _Dysferlin_ protein) Onset with gastroc weakness and atrophy and _biceps_ weakness 10 years later
136
2 year old presents with calf hypertrophy, tongue hypertrophy, and deafness. What protein is affected? What could be two causes of death?
LGMD 2C-F (defect of Sarcoglycan) Respiratory failure in 3rd decade, as well as dilated cardiomyopathy
137
Patient presents with atrophy of pelvic girdle and scapula, as well as contractures What would be a lab finding supporting your suspected diagnosis? what protein is defective?
markedly elevated CK (500x) ``` LGMD 2A (most common AR LGMD) Defect in _Calpain_ ```
138
What is the purpose of testing the Jaw-Jerk reflex? What conditions does an abnormal test suggest?
Judge the integrity of upper motor neurons from trigeminal motor nucleus: * Normally reflex is absent or very slight * However, in patient's with UMN disease, this can be hyperactive Other conditions this can be present in: * Lesions affecting supranuclear lesions of CN V * ALS * Extensive MS * bilateral corticobulbar infarction with pseudobulbar palsy
139
Patient presents with asymmetric weakness and essentially no sensory findings aside from mild vvibratory loss in lower extremities How would you confirm diagnosis? what would you use to treat?
Anti-GM-1 antibodies (multifocal motor neuropathy) Treatment with IVIG (doesn't respond to steroids or PLEX)
140
What peripheral nerve structure is responsible for encoding the following: Cold Temperatures Tactile sensations Vibration Deep static / position / mechanical pressure
* Cold Temperature: Krause Endings (think "santa krause) * Tactile: Meissner corpuscle * Vibration: pacinian corpuscle * Deep / position / mechanical: merkel disk ("Angela Merkel put deep, static pressure on Trump, just by being around")
141
Hereditary neuropathy with pressure palsy Gene / inheritance Most common affected nerves (6) Name 3 other possible findings
HNPP * Point mutatin or deletion in PMP22 gene (AD) * Most common affected nerves * Peroneal * Median * ulnar * axillary * radial * brachial plexus * other findings * nerve deafness * Scoliosis * Cranial neuropathy
142
Lab values you would associate with polymyalgia rheumatica (in process)
main (though nonspecific) elevated ESR CK = normal absence of muscle weakness on EMG muscle biopsy = normal
143
Exclusion criteria for CIDP(5)
1. Prominent sphincter disturbance 2. neuropathy due to other causes (i.e. borrelia burdorpheri) 3. Drug / toxin exposure 4. Diptheria 5. Multifocal motor neuropathy and/or IgM monoclonal gammopathy w/ antibodies to myelin- assocated glycoprotein
144
Pathogenesis of Lambert-Eaton syndrome
autoantibodies against pre-synaptic voltage gated calcium channels.
145
Young teenager prsents with episodic stiffness in muscles of neck, face, arms, and hands . These are worsened by exercise and cold exposure What tests could you order to confirm diagnosis? What is it? What causes it? what is another disorder this mutation can cause? What else would you see?
1. Tests to order 1. EGM: decrement in amplitude of CMAP with COOLING 2. What is it? 1. Paramyotonia congenita (von-eulenburg's disease) 3. What causes it? 1. Mutation in muscle sodium channel gene SCN4A 4. What is another mutation this can cause 1. Hyperkalemic periodic paralysi 5. What else to see 1. intermittent periods of muscle weakness and atonia
146
"quick differentiator between Duchenne/becker muscular dystrophy with emery dreifus muscular dystrophy
EMD = Contractures + Rhythm abnormalities Becker/Deuchenne = Dilated cardiomyopathy
147
Patient with polymyositis presents treated with resolution after steroids presents again with worsening weakness. How do you differentiate relapse from steroid myopathy
abnormal spontaneous activity on EMG is common in polymyositis but rare in steroid myopathy
148
Symptoms of acute intermittent porphyria (5)
"five P's" abdomimal **_P_**ain * *_P_**olyneuropathy * *_P_**sychological disturbances * *_P_**recipitated by drugs/alcohol * *_P_**urple urine
149
Patient presents with progressive profound asymmetric distal muscle weakness in 3 different peripheral nerves. No sensory symptoms What is the most likely antibody
Anti GM-1 multifocal motor neuropathy
150
What is Eteplirsen used to treat?
Deuchene muscular dystrophy
151
Patient with longstanding smoking history presents with horners syndrome and weakness of intrinsic hand muscles, as well as left arm pain. What does he have?
pancoast tumor
152
What is this?
Retinitis pigmentosa
153
histologic stains and associated conditions: PAS-Schiff Gomori Tricrome Congo Red cytochrome C oxidase
PAS-Schiff = McArdles (glycogen storage disorders) Congo Red = Amyloidosis Gomori-Tricrome: mitochondrial Myopathy Cytochrome C oxidase = mitochonrial Myopathy
154
What does this show?
Multiple glycogen-filled vacuoles staining for acid phosphatase
155
EMG sound buzzwords and meaning "corn Popping" "rain on roof" or "metronome" "world war II dive bomber"
"corn popping" = fasciculations "rain on roof" / "metronome" = fibrillations "WWII dive bomber" = Myokimia
156
45 year old man presents with thigh weakness and stiffness which improves with exercise, but also has cataracts. What does he have? What is the mutation? what is the inheritance?
Proximal myotonic myopathy (PPROM) ZNF9 on ch 3, CCTG repeats, autosomal dominant
157
Favorable prognostic factors in MS | (7)
"one, one-two, two two's, two "fews", forty 1. Monosymptomatic onset (one) 2. Long interval between 1st and 2nd attack 3. Presenting with visual dysfunction (two eyes) 4. Female sex (two X chromosomes) 5. Few lesions on initial T2 FLAIR 6. Fewer number of acute attacks within first two years 7. Presentation before age 40
158
Diabetic neuropathies: Large fiber: Small fiber: mononeuropathy: diabetic amyotrophy Mononeuritis multiplex
1. Large fiber (dymelinating) = vibration and proprioception 2. Small fiber = fine touch, pain, and temperature changes 3. Mononeuropathy: cranial or peripheral nerves (i.e. peroneal nerve) 4. Diabetic amyotrophy: pain, weakness, and atrophy of pelvifemoral muscles 5. Mononeurtitis multiplex: asymmetric invovlemnt of 2+ named nerves in separate parts of body
159
19 year old patient presents with distal weakness and atrophy beginning in his gastrocnemius and adductor magnus. CK is 80x upper limit of normal. What disease do you suspect? How do you confirm diagnosis (2) what other disease is this gene associated with?
1. Miyoshi myopathy 2. Confirm with: 1. mutations of both dysferlin genes (AR) on cheromosome 2 2. Biopsy shows "dystrophic changes" 3. Mutation also seen with limb-girdle muscle dystrophy (though this is proximal-onset)
160
Patient presents with encephalopathy, eharing loss, and visual loss. CTA shows branch retinal artery occlusions What MRI feature would you see that could confirm diagnosis?
DWI lesions in left ICA territory involving the corpus callosum (Susac syndrome)
161
Patient with myasthenia presents with diffuse weakness, bradycardia, and pinpoint pupils What medication could she be taking that would be important to stop?
Pyridostigmine | (cholinergic crisis possible with dose \> 120 mg over 3 hours)

Peds neuro boards, V2 (29 decks)

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