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Neurology > Pediatric Neuromuscular Disorders > Flashcards

Pediatric Neuromuscular Disorders Flashcards

1
Q

FSHD (facioscapulohumeral MD) - weakness pattern

A
  • face
  • scapular mm - see medial winging
  • UE mm - deltoid spared
  • peroneal mm

*may be asymmetric

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2
Q

FSHD (facioscapulohumeral MD) - inheritance

A

autosomal dominant

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3
Q

FSHD (facioscapulohumeral MD) - locus of mutation

A

4q35 deletion

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4
Q

FSHD (facioscapulohumeral MD) - CK levels

A

+/- elevated CK

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5
Q

limb-girdle MD - weakness pattern

A

many types, weakness patterns vary

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6
Q

limb-girdle MD - CK levels

A

+/- elevated CK

+/- cardiac mm involvement

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7
Q

limb-girdle MD - genes and inheritance

A

LMGD1 - auto dominant (AD)

LMGD2 - auto recessive (AR)

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8
Q

hereditary myopathies

A
  • Duchenne muscular dystrophy (DM)
  • Limb-girdle MD
  • FSHD (facioscapulohumeral MD)
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9
Q

Duchenne muscular dystrophy (DM) - genes and inheritance

A

DMD gene, X-linked recessive

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10
Q

Duchenne muscular dystrophy (DM) - CK levels

A

very high

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11
Q

Duchenne muscular dystrophy (DM) - clinical picture

A
  • mildly delayed walking
  • progressive PROXIMAL weakness and lordosis
  • calf (pseudo)hypertrophy - secondary to fatty and fibrous replacement
  • death in 20s
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12
Q

Duchenne muscular dystrophy (DM) - tx

A
  • corticosteroids
  • cardiomyopathy drugs
  • supportive/mobility care
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13
Q

pattern of sensory loss as it relates to site of pathology: ALL LIMBS

A

spinal cord or peripheral nerve

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14
Q

pattern of sensory loss as it relates to site of pathology: BOTH LE

A

spinal cord or peripheral nerve

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15
Q

pattern of sensory loss as it relates to site of pathology: GLOVE AND STOCKING

A

peripheral nerve

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16
Q

pattern of sensory loss as it relates to site of pathology: LE AND TRUNK

A

spinal cord

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17
Q

pattern of sensory loss as it relates to site of pathology: UNILATERAL UE

A

brachial plexus

18
Q

pattern of sensory loss as it relates to site of pathology: UNILATERAL LE

A

lumbar plexus or spinal cord

19
Q

pattern of sensory loss as it relates to site of pathology: UNILATERAL UE AND LE

A

brain or spinal cord

20
Q

Neuropathy - DTRs

A

absent

21
Q

Neuropathy - EMG

A
  • fasciculations
  • denervation potentials
  • HIGH-amplitude polyphasic motor potentials
22
Q

Neuropathy - NCS

A

normal or mildly slow

23
Q

Neuropathy - CK levels

A

normal or mildly elevated

24
Q

Neuropathy - mm bx

A

group atrophy, group typing

25
Q

Myopathy - DTRs

A

depressed or absent

26
Q

Myopathy - EMG

A

*bried, SMALL-amplitude polyphasic motor units

27
Q

Myopathy - NCS

A

normal

28
Q

Myopathy - CK levels

A

elevated

29
Q

Myopathy - mm bx

A

fiber necrosis; fatty and fibrous replacement, excessive collagen

30
Q

Myasthenia - DTRs

A

normal

31
Q

Myasthenia - EMG

A

normal

32
Q

Myasthenia - NCS

A

abnormal repetitive stimulation

33
Q

Myasthenia - CK levels

A

normal

34
Q

Myasthenia - mm bx

A

normal

35
Q

Dermatomyositis - CK levels

A

CK usually elevated

36
Q

Dermatomyositis - mm bx

A

perifascicular atrophy

37
Q

Dermatomyositis - tx

A

immunosuppression

38
Q

Dermatomyositis - clinical course

A

prodromal fever –> dermatitis –> myositis

39
Q

Dermatomyositis - clinical features

A
  • Gottron’s papules
  • Heliotrope rash
  • Shawl sign
  • Calcinosis - late
40
Q

Dermatomyositis - imaging

A

MRI - muscle edema

41
Q

Dermatomyositis - antibodies

A

anti-Mi 2 antibodies

Neurology (3 decks)

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