Neuromuscular Disease

Question 1

In duchenne, when is scoliosis surgery contraindicated

Answer 1

When FVC<40%

Question 2

Characteristic sign of limb girdle syndromes

Answer 2

Weakness of pelvic and shoulder girdle muscles

Question 3

Genetic inheritance of duchenne

Answer 3

X-linked recessive at Xp21 gene

Question 4

What is Steinert’s disease?

Answer 4

Myotonic muscular dystrophy

Question 5

Genetic inheritance of spinal muscular atrophy

Answer 5

Autosomal recessive

Question 6

Genetic inheritance of myotonia congenita

Answer 6

Autosomal dominant

Question 7

What do the congenital myopathies have in common?

Answer 7

They all present with floppy baby/hypotonia

Question 8

Age of Onset of friedreich’s ataxia

Answer 8

2-16 yo

Question 9

What muscle protein is deficient in emery-dreifuss muscular dystrophy

Answer 9

Emerin

Question 10

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

Answer 10

Cardiac status

Question 11

Prognosis of GBS in adults vs children

Answer 11

Children recover more quickly

Question 12

What blood test is elevated in duchenne

Answer 12

CK

Question 13

Duchenne muscle weakness: ankle inverters vs ankle evertors

Answer 13

Ankle evertors are weaker than inverters

Question 14

Which HMSN has retinitis pigmentosa

Answer 14

HMSN IV: Refsum disease

Question 15

Muscle biopsy finding in duchenne

Answer 15

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

Question 16

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

Answer 16

HMSN

Question 17

Genetic inheritance of myotonic muscular dystrophy

Answer 17

Autosomal dominant

Question 18

Genetic inheritance of facioscapulohumeral muscular dystrophy

Answer 18

Autosomal dominant

Question 19

Characteristic symptoms of myotonia congenita

Answer 19

1. Muscular hypertrophy

2. Sx better with warmth and exercise

Question 20

Which SMA shows frog-leg position

Answer 20

SMA I

Question 21

Genetic inheritance of congenital muscular dystrophy

Answer 21

Autosomal recessive

Question 22

1 cause of mortality in childhood neuromuscular diseases

Answer 22

Pulmonary complications

Question 23

Age of diagnosis of duchenne

Answer 23

<5yo

Question 24

Sitting prognosis of SMA I, II and III

Answer 24

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

Question 25

In duchenne, when does scoliosis usually develop?

Answer 25

After loss of ambulation

Question 26

Which SMA shows gower's sign?

Answer 26

SMA III

Question 27

What are SMA I, II and III also known as

Answer 27

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

Question 28

When is surgical intervention for scoliosis indicated in neuromuscular disease?

Answer 28

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

Question 29

5 characteristic findings of myotonic muscular dystrophy

Answer 29

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

Question 30

3 Characteristic signs of FSH muscular dystrophy

Answer 30

1. Facial weakness - can't whistle 2. Shoulder girdle weakness 3. Scapular winging

Question 31

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

Answer 31

Central core myopathy and minicore disease

Question 32

Which myotonic myopathy has arthrogryposis

Answer 32

Congenital myotonic dystrophy

Question 33

Which congenital myopathy is associated with hypotonia

Answer 33

Myotubular myopathy

Question 34

What does a myopathic gait look like?

Answer 34

Hyperlordotic waddling gait

Question 35

Which congenital myopathy is associated with malignant hyperthermia?

Answer 35

Central core myopathy

Question 36

What is the prognosis if transient neonatal myasthenia?

Answer 36

Self-remitting, resolves in 2-3 weeks

Question 37

Most common cranial nerve involvement in GBS

Answer 37

Facial nerve

Question 38

Earliest muscle in duchenne that demonstrates weakness

Answer 38

Neck flexors

Question 39

Genetic inheritance of limb girdle syndrome

Answer 39

Autosomal recessive

Question 40

Which HMSN is demyelinating and which is axonal?

Answer 40

HMSN I and III = demyelinating | HMSN II = axonal

Question 41

Genetic inheritance of emery-dreifuss muscular dystrophy

Answer 41

X-linked recessive

Question 42

Characteristic signs of emery-Dreifuss muscular dystrophy

Answer 42

1. Atrophy of biceps and gastrocnemius | 2. Elbow flexion contracture

Question 43

Genetic inheritance of friedreich's ataxia

Answer 43

Autosomal recessive

Question 44

Which HMSN has pes cavus

Answer 44

HMSN I (CMT) and III (Dejerine Sottas)

Question 45

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

Answer 45

Transient neonatal myasthenia

Question 46

Genetic inheritance of becker's muscular dystrophy

Answer 46

X-linked recessive at Xp21 gene

Question 47

In duchenne, at what age do you lose ambulation

Answer 47

8-12 yo

Question 48

What is characteristic sign of myotonic myopathies?

Answer 48

Delayed relaxation after muscle contraction

Question 49

2 characteristic signs of congenital muscular dystrophy

Answer 49

Contractures and hypotonia

Question 50

Which HMSN has a bottle leg/stork appearance

Answer 50

HMSN I and II (CMT I and II)

Question 51

Which HMSN is autosomal dominant

Answer 51

HMSN I (CMT)