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Pediatrics > Neuromuscular Disease > Flashcards

Neuromuscular Disease Flashcards

1
Q

In duchenne, when is scoliosis surgery contraindicated

A

When FVC<40%

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2
Q

Characteristic sign of limb girdle syndromes

A

Weakness of pelvic and shoulder girdle muscles

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3
Q

Genetic inheritance of duchenne

A

X-linked recessive at Xp21 gene

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4
Q

What is Steinert’s disease?

A

Myotonic muscular dystrophy

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5
Q

Genetic inheritance of spinal muscular atrophy

A

Autosomal recessive

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6
Q

Genetic inheritance of myotonia congenita

A

Autosomal dominant

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7
Q

What do the congenital myopathies have in common?

A

They all present with floppy baby/hypotonia

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8
Q

Age of Onset of friedreich’s ataxia

A

2-16 yo

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9
Q

What muscle protein is deficient in emery-dreifuss muscular dystrophy

A

Emerin

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10
Q

What needs to be closely monitored in emery-dreifuss muscular dystrophy

A

Cardiac status

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11
Q

Prognosis of GBS in adults vs children

A

Children recover more quickly

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12
Q

What blood test is elevated in duchenne

A

CK

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13
Q

Duchenne muscle weakness: ankle inverters vs ankle evertors

A

Ankle evertors are weaker than inverters

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14
Q

Which HMSN has retinitis pigmentosa

A

HMSN IV: Refsum disease

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15
Q

Muscle biopsy finding in duchenne

A

Degenerating fibers in clusters with necrotic fibers surrounded by macrophages and lymphocytes

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16
Q

Which disease do you characteristically see upside down champagne bottle leg appearance

A

HMSN

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17
Q

Genetic inheritance of myotonic muscular dystrophy

A

Autosomal dominant

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18
Q

Genetic inheritance of facioscapulohumeral muscular dystrophy

A

Autosomal dominant

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19
Q

Characteristic symptoms of myotonia congenita

A
  1. Muscular hypertrophy

2. Sx better with warmth and exercise

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20
Q

Which SMA shows frog-leg position

A

SMA I

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21
Q

Genetic inheritance of congenital muscular dystrophy

A

Autosomal recessive

22
Q

1 cause of mortality in childhood neuromuscular diseases

A

Pulmonary complications

23
Q

Age of diagnosis of duchenne

A

<5yo

24
Q

Sitting prognosis of SMA I, II and III

A

SMA I = cannot sit independently
SMA II = can sit but not stand independently
SMA III = independent standing, but wheelchair by 30

25
Q

In duchenne, when does scoliosis usually develop?

A

After loss of ambulation

26
Q

Which SMA shows gower’s sign?

A

SMA III

27
Q

What are SMA I, II and III also known as

A

SMA I = Werdnig-Hoffman
SMA II = Chronic Werdnig-Hoffman
SMA III = Kugelberg-Welander

28
Q

When is surgical intervention for scoliosis indicated in neuromuscular disease?

A

When curvature is 35 degrees and before patient’s vital capacity falling below 35%.

29
Q

5 characteristic findings of myotonic muscular dystrophy

A
  1. Cataracts
  2. Gonadal atrophy
  3. Hatchet face
  4. Frontal balding
  5. Cardiac arrhythmias
30
Q

3 Characteristic signs of FSH muscular dystrophy

A
  1. Facial weakness - can’t whistle
  2. Shoulder girdle weakness
  3. Scapular winging
31
Q

Which congenital myopathy has a predominance of Type I muscle fibers?

A

Central core myopathy and minicore disease

32
Q

Which myotonic myopathy has arthrogryposis

A

Congenital myotonic dystrophy

33
Q

Which congenital myopathy is associated with hypotonia

A

Myotubular myopathy

34
Q

What does a myopathic gait look like?

A

Hyperlordotic waddling gait

35
Q

Which congenital myopathy is associated with malignant hyperthermia?

A

Central core myopathy

36
Q

What is the prognosis if transient neonatal myasthenia?

A

Self-remitting, resolves in 2-3 weeks

37
Q

Most common cranial nerve involvement in GBS

A

Facial nerve

38
Q

Earliest muscle in duchenne that demonstrates weakness

A

Neck flexors

39
Q

Genetic inheritance of limb girdle syndrome

A

Autosomal recessive

40
Q

Which HMSN is demyelinating and which is axonal?

A

HMSN I and III = demyelinating

HMSN II = axonal

41
Q

Genetic inheritance of emery-dreifuss muscular dystrophy

A

X-linked recessive

42
Q

Characteristic signs of emery-Dreifuss muscular dystrophy

A
  1. Atrophy of biceps and gastrocnemius

2. Elbow flexion contracture

43
Q

Genetic inheritance of friedreich’s ataxia

A

Autosomal recessive

44
Q

Which HMSN has pes cavus

A

HMSN I (CMT) and III (Dejerine Sottas)

45
Q

What can happen if baby inherits ACh receptor antibodies from mother?

A

Transient neonatal myasthenia

46
Q

Genetic inheritance of becker’s muscular dystrophy

A

X-linked recessive at Xp21 gene

47
Q

In duchenne, at what age do you lose ambulation

A

8-12 yo

48
Q

What is characteristic sign of myotonic myopathies?

A

Delayed relaxation after muscle contraction

49
Q

2 characteristic signs of congenital muscular dystrophy

A

Contractures and hypotonia

50
Q

Which HMSN has a bottle leg/stork appearance

A

HMSN I and II (CMT I and II)

51
Q

Which HMSN is autosomal dominant

A

HMSN I (CMT)

Pediatrics (12 decks)

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