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Neuromuscular diseases > NMuscular > Flashcards

NMuscular Flashcards

1
Q

DMD, when do symptoms appear?

When average age of diagnosis?

A

Symptoms: 2.5 years
Diagnosis: 5

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2
Q

Typical Development DMD

A

Not smart to start
Delayed motor, language, cognitive
Slower ambulatory gains (4-7)
Declining strength and lungs (7-13)

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3
Q

Most famous tests for DMD

A

Gower’s

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4
Q

Specific components of lower motor neurons

A
  1. Anterior Horn
  2. Peripheral nerve
  3. Neuromuscular junction (NMJ) - pre/post synapse
  4. Muscle
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5
Q

Endocrine in Myotonic Dystrophy

A

Hypothyroid

Insulin resistence

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6
Q

What do DMD patients need for their hearts?

A

Automatic defibrillator

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7
Q

What sense needs to be monitored with FSHD

A 
Hearing!!!
Coates syndrome  (early onset FSHD)
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8
Q

New genetic types of LGMD

A

Sarcoglycanopathies
dysferlinopathies
calpainopathis
FKRP (Fukutin) opathies

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9
Q

Lead

A

-anorexia
-nausea and vomiting
-fatigue
-clumsiness and ataxia
-cognitive impairment
Electrodiagnostic: axonal degeneration motor > sensory
-Lead lines in bones

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10
Q

Chromosom for all Spinal Muscular Atrophy (SMA)

A

5q13

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11
Q

What is Narp (mitochondrial disease)

A

limb weakness, sensory neuropathy, ataxia

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12
Q

CIDP

A

Like AIDP but comes and goes and stays

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13
Q

Two types of Myotonic muscular dystrophy

A

DM1 (distal)

DM2 (proximal)

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14
Q

What is FSHD

A

Fascioscapulohumeral Muscular Dystrophy

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15
Q

What is “second wind” in McArdle’s

A

With onset of myalgia, resting allows continuation with no symptoms

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16
Q

List Congenital Myopathies

A 
Central Core
Nemaline Myopathy
Centronuclear
Severe x-linked Centronuclear (myotubular) Myopathy
Minicore disease 
Congenital Fiber-Type Size Disproportion
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17
Q

Infantile botulism

A

Presents between 10 days to 6 months
acute onset: Hypotonia, dysphagia, weak cry, respiratory insufficiency
Exam: weakness diffuse, ptosis, ophthalmoplegia with dilation pupils, reduced gag, ok DTRs

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18
Q

McArdle’s onset

A

Poor endurance during childhood
Exercise induced cramps and myalgia
Symptoms precipitated by lifting weights or stairs

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19
Q

Benefit of aerobic exercise

A

Improve strength
Better cardiac pump function
Improved exercise performance

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20
Q

Loci for DMD

A

Xp21

Codes for the protein dystrophin

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21
Q

Loss of ambulatory milestones DMD

A 
lose jump, hop, run
Gower's
Sit up from supine
Stairs
walk
stand in place
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22
Q

What does respiratory compromise due in dystrophies

A

Hypercapnia

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23
Q

Myotonic Dystrophy, what is the biggest concern?

A

Heart. Arrhythmias get worse. Risk of sudden death

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24
Q

What happens to the eyes in Myotonic Dystrophy

A

Cataracts before 55

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25
Q

Which transmission is worse, paternal or maternal

A

Maternal, often increased repeats over that of mom

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26
Q

What happens to scapula in FSHD

A

Lateral
Superior
Forward

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27
Q

Inheritance of Emery-Dreifuss Muscular Dystrophy

A

X-linged recessive progressive dystrophic myopathy due to Emerin

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28
Q

What is the 10-meter walk/run test and why important

A

12 seconds or longer to ambulate 10 meters means losing ambulation within a year

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29
Q

Ataxia telangiectasia

A

Autosomal recessive, 0-10, ataxia, dysarthria, ocular telangiectasis, immune deficiency, risk of cancer

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30
Q

MNGIE (mitochondrial disease)

A 
PEO
Severe gi dysmotilitiy
cachexia
peripheral neuropathy
diffuse bleukoencephalopathy
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31
Q

What is LGMD

A

Limb Girdle Muscular Dystrophy

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32
Q

Spinocerebellar degeneration Diseases

A

Friedreich’s ataxia

28 or more distinct autosomal dominant spinocerebellar degenerative ataxias

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33
Q

Benefit of steroids in DMD

A

Adds extra 2 years of walking

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34
Q

Freidreich’s Ataxi

A 
Onset before age 20
Autosomal recessive 
Protein Frataxin
Progressive ataxic gait, cerebellar dysfunction with tremor and dysmetria, dysarthria, decreased proprioception or vibratory or both
absent DTRs
Babinski, Spasticity
Lower extremity weakness and small muscles in hands and feet
Death from cardiomyopathy age 30 to 70
100% scoliosis
"Idebenone" med like CoQ10
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35
Q

What is a quick way to rule out DMD

A

Normal CK

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36
Q

Becker’s In-frame or out of frame mutation

A

In frame

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37
Q

Spinal Deformities (Scoli)

A

May be less with deflazacort in DMD

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38
Q

Is exercise good in DMD

A

Yes. Keeps less decline

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39
Q

DMD and Beckers, weakness prox or distal?

A

Proximal

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40
Q

Inheritance Myotonic Dystrophy

A

Autosomal dominant

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41
Q

Cognition in Myotonic Dystrophy

A

Severe cognitive impairment in congenital. In other onset IQ 86-92. Frequent daytime hypersomnolence

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42
Q

Direct Diagnosis of Infantile botulism

A

measure clostridium botulinum toxin in rectal aspirate

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43
Q

2 basic origins of NMDs (NeuroMuscularDiseases)

A

Acquired or Hereditary

44
Q

FVC below 30 to 40% means increased??

A

Peri-operative morbidity. But can do fusion.

45
Q

SMA Type I Common Name

A

Werdnig-Hoffmann (severe form)

-Onset birth to 6 mo, death by 2

46
Q

Correlate of development of LE contracture in DMD

A

Wheelchair reliance

47
Q

Mercury

A
  • generalized encephalopathy
  • fatigue
  • distal motor axonal neuropathy
  • ataxia and absent DTRs
  • Motor axonal degeneration, normal sensory NCV
48
Q

How common is FSHD compared with DMD and Myotonic Dystrophy

A

DMD 1st
Myotonic 2nd
FSHD 3rd

49
Q

Organ systems of Myotonic Dystrophy

A 
Muscles
Eyes:  cataracts
Heart:  Conduction
Lungs:  restrictive
Brain:  Cognitive
Endocrine:  diabetes
50
Q

Inheritance pattern limb girlde muscular dystrophy

A 
Autosomal dominant (LGMD1)
Autosomal recessive (LGMD2)
But now many types
51
Q

Efficacy of prednisone v deflazacort for DMD

A

Same benefits

52
Q

Examples of neuromuscular junction disorders

A 
Transient neonatal myesthenia
Congenitl Myasthenic Syndromes
Autoimmune Myasthenia Gravis
Infantile Botulism
Noninfantile acquired botulism
53
Q

Electrodiagnostics of infantile botulism

A 
Reduced CMAP
Velocities preserved
fibs
spontaneous rest activity
short-low amp muaps
54
Q

How soon is cardiac disease seen

A

Almost invariably present with onset

55
Q

Types of genetic dysfunction for DMD/BMD

A

Deletion of exons 60%
out-of-frame deletions – very bad
in-frame – less bad
Other types: single nucleotide variants, small deletions or insertions in the coding sequence, or splice site variant

56
Q

Protein and calorie needs in dystrophies

A

160%

57
Q

Loss of non-ambulatory milestones DMD

A 
Can't reach overhead
Can't reach scalp
Self-feed
Can't lift hands to tabletop
Can't use computer
58
Q

Name 6 toxic neuropathies

A
  1. Arsenic
  2. Lead
  3. Mercury
  4. Organophosphate
  5. Glue sniffing (N-Hexane)
  6. Chemo
59
Q

Is cardiac dysfunction high in BMD

A

Yes

60
Q

What is Pompe’s disease

A

Acid Maltase deficiency in which there is glycogen accumulation in muscle. High risk of death, esp with anesthetics

61
Q

Where is the protein dystrophin in the body

A
  1. intracellular of plasma membrane all skeletal muscle cells
  2. certain types of neurons
  3. cardiac muscle cells
  4. Purkinje cells of cardiac conduction
  5. Smooth muscle cells of GI tract
62
Q

Pattern of weakness in Limb Girdle

A

Proximal upper limbs

Proximal lower limbs (girdle)

63
Q

Strength in slowly progressive neuromuscular disease

A

Must be supervised

Submaximal exercise

64
Q

Peripheral Nerve Disorders

A

AIDP - Acute Inflammatory Demyelinating PolyN (Guillan - Barre)
CIDP - Chronic Inflammatory Demyelinating Polyradiculoneuropathy
CMT - Charcot Marie Tooth, Hereditary Motor Sensory Neuropathy (HMSN)
Toxic (Arsenic, Lead, Mercury, Organophosphate, glue sniffing (N-hexane), chemo (Vincristine))
Metabolic Neuropathies

65
Q

When do congenital muscular dystrophies present

A

At birth or first few months

66
Q

Chemo

A

Vincristine

  • distal weakness
  • Absent DTRs
  • foot drop
  • Reduced CMAP and neuropathic recruitment
67
Q

Is Myotonic Dystrophy proximal or distal

A

Distal (one of the few dystrophic myopathies to do so)

68
Q

Exercise in rapidly progressive disorders

A

Eccentric with more mechanical stress probably bad and probably part of the reason why eccentric high muscles (hip extensors, quads, gastrocs) weaken first
Do submaximal strengthening

69
Q

Pulmonary milestone loss DMD

A

FVC < 50% use cough assistance
FCV < 40% use non-invasive vent
FCV <30% use vent overnight

70
Q

AIDP electrodiagnostic findings

A

Prolonged or absent F wave
Slowing of conduction velocities both prox and distal
Prolonged distal motor latency
reduction of CMAP amplitude with conduction block
Temporal dispersion of CMAP

71
Q

Glue sniffing (N-hexane)

A

Can have distal motor and sensory demyelination

72
Q

SMA Type III Common Name

A
  • Kugelberg-Welander, mild form
  • Onset after 18 months
  • can stand and walk
  • death in adulthood
73
Q

Organophosphate

A
  • insecticides
  • high temp lubricants or plastics
  • Encephalopathy, confusion and coma
  • Cholinergic crisis: sweating, cramps, constricted pupils
  • Rapidly progressive motor neuropathy
74
Q

Most useful clinical criteria DMD v BMD

A

Age of transition to wheelchair: BMD ambulate past 16 years.

75
Q

Name of the two steroids for DMD

A
  1. Prednisone

2. deflazacort

76
Q

What is the pathology of McArdle’s

A

Can’t use glycogen normally

77
Q

SMA Type II (No Common Name)

A

Intermediate Form

  • Onset by 18 months
  • Sitting obtained
  • Never walk
  • Death after 2, mostly adult
78
Q

Things to try for diagnosis of DMD

A
  1. CK
  2. Genetic testing (deletions obvious, but 40% less frequent)
  3. Muscle biopsy
  4. Dystrophin expression analysis
79
Q

AIDP

A

Autoimmune demyelination motor more than sensory
CSF protein up
EMG findings confirmatory
Worst at 2 weeks, months to full recovery (common for kids)
Treatments: steroids, plasma exchange, IVIG

80
Q

Hallmark contractors of Emery-Dreifuss

A

Elbow flexion contractures

81
Q

Benefits of deflazacort

A
  1. Less weight gain

2. Less behavioral side effects

82
Q

DMD, what happens to weight after fusion

A

Goes down

83
Q

3 Motor Neuron Disorders (Anterior horn and brainstem motor nuclei)

A
  • SMA1
  • SMA2
  • SMA3
84
Q

When to do spine fusion Beckers

A

Scoli 30 degrees and FCE > 30% predicted

85
Q

If ankle plantar of hip abduction contractures happen in early decline of gait???

A

Surgery fast and careful. Do not over lengthen. Do not lengthen late = rapid and immediate loss of gait. Goal is really to wear KAFO, not to affect the gait cycle itself.

86
Q

What is MERRF (mitochondrial disasea)

A

Myoclonus, seizures, ataxia, ragged red fibers (type of mitochondrial myopathY)

87
Q

Contractures in dystrophic myopathy

A

High degree of fibrosis and fatty infiltration
Must adjust static position of joints
Passive stretching best for still ambulatory with light contractures

88
Q

What is CMT3

A

Charcot Marie Tooth #3, Dejerine-Sottas
Severe hypertrophic demyelinating polyneuropathy
Onset infancy or childhood
NCV less than 10 m/sec

89
Q

What is PEO (mitochondrial disease)

A

Progressive External Ophthalmoplegia

90
Q

Symptoms of arsenic poisoning

A
  • looks like Guillain-Barre or CIDP
  • GI, tachycardia, hypotensive
  • Mee’s lines in nails
  • Alopecia
91
Q

Operative dangers with Becker’s

A

Malignant hyperthermia

92
Q

Cardiac involvement in Myotonic Dystrophy

A

75%, dysrhythmia, esp heart block. 1% risk of sudden death each year.

93
Q

DMD

A

Duchenne Muscular Dystrophy – a Dystrophinopathy

94
Q

How many NMDs affect other organs

A

MANY!

95
Q

What is myotonia in Myotonic Dystrophy

A

Delayed relax of grip, or of percussion myotonia, can treat with mexilitine

96
Q

What side effects to look for prednisone/deflazacort

A
  1. cataracts
  2. Hypertension
  3. Weight gain
  4. Osteoporosis
  5. Growth retardation
  6. Diabetes
  7. Messed up behavior
97
Q

Becker’s treatments

A
  1. Maybe prednisone, plus/minus effective
  2. Short course of creatine monohydrate
  3. ACE inhibition or angiotensin receptor blockers for cardiomyopathy
98
Q

Genetics of Spinal Muscular Atrophy

A

All caused by mutations in telomeric SMN1
All patients have at least one copy of centromeric SMN2
SMA Type 1, <3 copies SMN2
SMA Type 2, 3 copies SMN2
SMA Type 2, 3 4-8 copies SMN

99
Q

What is McArdle’s disease

A

The most common glycogen storage disease

Myophosphorylase deficiency

100
Q

What is MELAS (Mitochondrial disease)

A

Stroke like young age
encephalopathy with seizures and dementia
Ragged red fibers

101
Q

What are mitochondrial encephalomyopathies

A

Genetic disorders of the mitochondrial DNA

102
Q

Face of Myotonic Dystrophy

A

Lugubrious: temporal and master wasting, frontal balding, tent shaped mouth

103
Q

Types of Congenital Muscular Dystrophy

A 
Merosin Deficient
Merosin Positive
Fukuyama
Muscle eye brain
Ullruch
104
Q

What is HMSN

A

Hereditary Motor Sensory Neuropathy - Charcot-Marie-Tooth

105
Q

Examples of Mitochondrial myopathies

A

Kearns-Sayre syndrome: PEO, retinitis pigments, and complete heart block

Neuromuscular diseases (2 decks)

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