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PRM Board Exam > Neuromuscular > Flashcards

Neuromuscular Flashcards

1
Q

What is the inheritance pattern of DMD and BMD?

A

X-linked

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2
Q

What is the gene location associated with DMD and BMD?

A

Xp21

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3
Q

When is ambulation lost in DMD without steroids? When is it lost with use of steroids?

A

Without: 7-13
With 9 -15

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4
Q

What type of mutation occurs in DMD?

A

Frameshift causing a premature stop codon creating a nonfunctional protein

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5
Q

What type of mutation occurs in BMD?

A

In frame mutation that produces a small but somewhat functional protein

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6
Q

What is dystrophin?

A

A cytoplasmic protein inside the sarcolemma that anchors the muscle cell to the extracellular matrix

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7
Q

What happens to a muscle fiber that lacks dystrophin?

A

Repeated contractions trigger degeneration and a inflammatory cascade

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8
Q

Where is dystrophin located (5 locations)?

A

Skeletal muscle, smooth muscle, cardiac muscle, cardiac purkinje cells, brain tissue

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9
Q

At what age range does DMD usually present?

A

2 - 6

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10
Q

What is standard of care for the diagnosis of DMD?

A

Complete genetic sequencing

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11
Q

What type of mutations cannot be detected by complete genetic sequencing?

A

Intronic mutations (2%)

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12
Q

At what age should DMD patients start getting cardiac MRIs

A

6

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13
Q

How often should cardiac MRIs be done in DMD patients?

A

Every 1-2 years from 6 to 10 and yearly after that

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14
Q

What are the first two pulmonary parameters to show impairment in the DMD population?

A

Maximal inspiration and expiratory pressures

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15
Q

What percentage decline occurs in the percentage predicted FVC from 10 - 18 in the DMD population?

A

5 to 6%

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16
Q

When should DMD patients start daily use of a cough assist (in-exsufflator) machine?

A

When FVC%p approaches 60%

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17
Q

When should DMD patients be considered for nocturnal BiPAP?

A

When FVC%p approaches 50%

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18
Q

What does a FVC of less than 1 L in a DMD patient indicate?

A

5-year survival of less than 8%

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19
Q

At what stage is BiPaP usually started in DMD patients?

A

Early nonambulatory

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20
Q

Why is oxygen usually contraindicated in DMD?

A

Because the pulmonary impairment is usually restrictive and oxygen may lower respiratory drive

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21
Q

What type of dysfunction causes difficulty swallowing solids?

A

Esophageal

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22
Q

What type of dysfunction causes difficulty swallowing liquids?

A

Oropharyngeal

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23
Q

What are two common endocrine features of DMD?

A

Delayed puberty, linear growth impairment

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24
Q

What are 4 indications for referral to endocrinology in the DMD population?

A

Growth of less than 4cm per year, absence of pubertal development by age 14, loss of ambulation, bone fracture

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25
Q

How should bone health be monitored in DMD patients?

A

Lateral spine x-ray every 2 (on steroids) to 3 years (steroid naive)

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26
Q

Where in the brain is dystrophin expressed in particular

A

The hippocampus

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27
Q

What is the mechanism of glucocorticoids modifying progression of DMD?

A

They improve dystrophin expression by decreasing expression of microRNAs

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28
Q

What is the mechanism of Eteplirsen in treating DMD?

A

It causes skipping of exon 51

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29
Q

When is spine surgery considered in DMD?

A

Early (curve 20 degrees or more)

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30
Q

In DMD, which limb girdle weakness presents first?

A

pelvic girdle precedes shoulder weakness by several years

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31
Q

What is the average age for WC dependence in DMD?

A

10

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32
Q

When does scoliosis present in DMD?

A

Around 12- 15 years old or after 3 - 4 years in the wheelchair

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33
Q

What FVC level is a contraindication to spinal surgery due to risk of morbidity?

A

FVC < 40%

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34
Q

Which facial muscles are usually spared in facioscapulohumeral MD?

A

masseter, temporalis, extraocular, and pharyngeal

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35
Q

Which muscle disease typically presents in adolescence with elbow flexion contractures?

A

Emery-Dreifuss MD

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36
Q

In which muscular dystrophy are cardiac complications rare?

A

Facioscapulohumeral

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37
Q

Which congenital myopathy presents with a predominance of type I fibers and a high incidence of malignant hyperthermia?

A

central core myopathy

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38
Q

Which type of muscular dystrophy presents with distal greater than proximal weakness?

A

myotonic MD

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39
Q

What lab can help differentiate if AST and ALT elevations are muscular or hepatic in origin?

A

GGT because it is not in muscle

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40
Q

What mobility function is typically lost first in DMD?

A

ability to stand from the floor

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41
Q

What is predictive of loss of ambulation in 4 years in the DMD population?

A

a decline of 10% in the 10-meter run/walk over the course of a year

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42
Q

What is the average age of full time WC use in a non-treated DMD patient?

A

10 years old

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43
Q

Past what age are patients with BMD typically able to ambulate?

A

16

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44
Q

What is the median age of survival in DMD?

A

25 years old

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45
Q

What is the median age of survival in BMD?

A

67

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46
Q

What are three benefits of steroid treatment in DMD?

A

prolong ambulation by about 3 years, preserve upper limb and respiratory function, decrease need for scoliosis surgery

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47
Q

What should be given before starting steroid therapy in a DMD patient?

A

live-virus vaccines

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48
Q

What steroid side-effects should boys with DMD be monitored for?

A

cataracts, HTN, DM, weight gain, osteoporosis, growth retardation

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49
Q

What pattern of inheritance of LGMD presents in childhood?

A

recessive

50
Q

What are two extramuscular features of early-onset FSHD?

A

retinal vasculopathy and hearing loss

51
Q

What is the genetic abnormality seen in myotonic dystrophy type 1?

A

trinucleotide repeat of CTG

52
Q

What is the inheritance pattern of almost all cases of Myotonic Dystropy Type 1?

A

autosomal dominant maternal inheritance

53
Q

What muscles are typically week in myotonic dystrophy type 1?

A

facial muscles, finger flexors, and ankle dorsiflexors

54
Q

Where do contractures typically occur in Emery-Dreifuss MD?

A

neck, elbows, and ankles

55
Q

What prophylactic treatment should patients with Emery-Dreifuss MD undergo? Why?

A

pacemaker/defibrillator placement due to progressive cardiac disease with propensity for arrhythmia

56
Q

What is the inheritance pattern of congenital muscular dystrophies?

A

autosomal recessive

57
Q

What two things are highly variable in congenital muscular dystrophies?

A

degree of muscular involvement and clinical course

58
Q

What type of CMD presents with diffuse brain MRI white matter abnormalities?

A

Merosin deficient

59
Q

What is the most severe form of collagen VI deficient CMD with ambulation lost by second decade due to contractures and weakness?

A

Ullrich CMD

60
Q

What is the most mild form of collagen VI deficient CMD with ambulation maintained into adulthood?

A

Bethlem CMD

61
Q

What skin finding can be seen in all forms of collagen VI deficient CMD?

A

hyperkeratosis pilaris (goose bumps)

62
Q

What presents with early onset muscle weakness and hypotonia that is static or improving over time?

A

congenital myopathies

63
Q

Can CK and EMG findings be normal in congenital myopathies?

A

yes

64
Q

What presents with progressive ophthalmoparesis, ataxia, and proximal myopathy?

A

Kearns-Sayre Syndrome

65
Q

What presents with exercise induced cramps and myalgia during childhood?

A

myophosphorylase deficiency (McArdle’s disease)

66
Q

When do limb contractures typically present in the pediatric patient with myopathy?

A

after transition to full-time WC use

67
Q

What type of cast can be used to treat elbow or knee flexion contractures?

A

dropout knee extension serial cast

68
Q

Why is heel cord lengthening rarely needed in a muscular dystrophy patient?

A

the calcaneus is usually already in dorsiflexion

69
Q

What can cause immediate loss of walking in a DMD patient with quads less than 4/5 strength?

A

achilles tendon lengthening

70
Q

When should a DMD patient be referred to Orthopedics for spinal monitoring?

A

curve over 20 degrees

71
Q

What are two types of heart block seen in myotonic dystrophy?

A

1st degree AV, bundle branch

72
Q

What is one advantage of a scooter over a standard WC?

A

they are easier to transfer to and from due to elevated seat height

73
Q

What type of muscle contraction is eliminated in the water?

A

eccentric

74
Q

What is the most common heritable peripheral neuropathy?

A

HMSN (CMT)

75
Q

What is the inheritance and pathology of CMT1

A

AD and demyelinating

76
Q

What are the earliest abnormalities seen on exam in CMT1?

A

vibratory, touch, and pain sensation

77
Q

Which type of CMT is characterized by severe childhood-onset weakness and sensory changes?

A

CMT4

78
Q

What is the genetic abnormality with CMT1A?

A

duplication of PMP-22

79
Q

What is the genetic abnormality with hereditary neuropathy with pressure palsy?

A

deletion of PMP-22

80
Q

What is spared in hereditary sensory and autonomic neuropathy 1

A

vibratory sensation

81
Q

What has been shown to attenuate progression of distal weakness in children with CMT1?

A

progressive long-term resistance strength training

82
Q

What sleep disorders are seen in CMT in a higher incidence than the general population?

A

restless leg syndrome, sleep apnea

83
Q

What factor determines the severity of SMA?

A

The number of copies of the SMN2 gene

84
Q

When does SMA1 present ?

A

Many do not show signs until after 2-3 months. Patients will present within 4 months of life.

85
Q

What has traditionally be the life expectancy in SMA1

A

2 years old

86
Q

When does SMA2 present?

A

7 to 18 months old

87
Q

What is another name for SMA1?

A

Werdnig-Hoffman disease

88
Q

What is another name for SMA2?

A

Dubowitz disease

89
Q

What is another name for SMA3?

A

Kugelberg-Welander disease

90
Q

What muscles are typically spared in SMA?

A

diaphragm, facial and extraocular muscles

91
Q

When does SMA3a present?

A

after 18 months

92
Q

When does SMA3b present?

A

after 3 years old

93
Q

How may copies of SMN2 does a SMA1 patient have?

A

2

94
Q

How many copies of SMN2 does a SMA3b patient have?

A

4

95
Q

How many copies of SMN2 does a SMA2 or SMA3a patient have?

A

3-4

96
Q

By when do the majority of SMA3a patients lose the ability to ambulate?

A

20 years old

97
Q

What is the major functional difference between SMA1 and SMARD?

A

In SMARD, there is diaphragmatic weakness with early ventilator dependence

98
Q

What is the mechanism of Nusinersen?

A

modifies pre-mRNA splicing of the SMN2 gene allowing inclusion of exon 7 and expression of a full-length SMN protein

99
Q

What is the advantage of Risdiplam over Nusinersen?

A

Risdaplam can be given orally

100
Q

What is the mechanism of Onasemnogene?

A

delivery of a SMN1 gene via a AAV9 vector

101
Q

Are eccentric exercises safe in mild SMA?

A

yes

102
Q

What is best practice for scoliosis monitoring in SMA?

A

XR every 6 months for curves over 20 degrees

103
Q

What kind of neuropathy is seen with Vincristine?

A

axonal motor and sensory neuropathy

104
Q

What kind of neuropathy is seen with Cisplatinum?

A

axonal sensory neuropathy

105
Q

What is the prognosis for neuropathy caused by cancer treatments?

A

recovery should occur after discontinuation of treatment but it may be incomplete and protracted

106
Q

What self-resolving symptoms can be seen with Oxaliplatin infusion?

A

dysphagia, dyspnea, and perioral paresthesisas

107
Q

What kind of neuropathy is seen with lead exposure?

A

Axonal sensory-motor neuropathy (classically more motor affecting the hands)

108
Q

What presents with muscle fatigue and eyelid ptosis?

A

congenital myasthenic syndromes

109
Q

Antibodies to which 2 receptors are seen in juvenile myasthenia gravis?

A

MusK and LRP4 (leucine rich protein 4)

110
Q

What symptom is most frequently noted in juvenile myasthenia graves (JMG)?

A

ptosis

111
Q

When does infantile botulism typically present?

A

2 weeks to 6 months of age

112
Q

What should be suspected in a 1 month old baby with acute onset of hypotonia, weakness, and respiratory insufficiency?

A

infantile botulism

113
Q

What is the most common finding on examination of a child with acquired botulism?

A

cranial nerve involvement

114
Q

What finding is most predictive of respiratory compromise requiring ventilation in a patient with GBS?

A

severe involvement of the upper extremities

115
Q

What is seen in CSF of GBS patients?

A

increased CSF protein and low cell count

116
Q

What anti-body is associated with Miller Fischer syndrome?

A

anti-GQ1b

117
Q

What are two predictors of long-term muscle weakness in children with GBS?

A

age less than 9, rapid progression to weakness within 10 days of onset

118
Q

What are two features seen in Miller Fischer syndrome?

A

ataxia and ophthalmoplegia

119
Q

What are 3 benefits to using steroids in the DMD population?

A

prolong ambulation by 2-3 years, preserve respiratory function, and decrease the need for scoliosis surgery

120
Q

How does prognosis for motor recovery in GBS differ between children and adults?

A

Children generally have a better prognosis for motor recovery than adults

121
Q

What medications can trigger a myasthenic crisis?

A

botulinum toxin, Mg, antiboitics, anticonvulsant, psych meds, beta-blockers/CCBss

PRM Board Exam (17 decks)

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