Pediatric Neuromuscular Disorders

Question 1

Hereditary Myopathies:

Answer 1

1. Duchenne Muscular Dystrophy (DMD)
   1b. Becker MD.
2. Limb-Girdle MD (LGMD: Type 1 AD, Type 2 AR)
3. Facioscapulohumeral MD (FSHD)

Question 2

Acuired Myopathies:

Answer 2

Dermatomyositis

Question 3

Hereditary Neuropathies:

Answer 3

Charcot-Marie-Tooth (CMT) disease:
CMT1: AD, demyelinating, most common, duplication on chromosome 17 of PMP22 gene.
CMT2: AD, axonal
CMT3: AD or AR, Dejarine-Sottas, severe infantile form
CMT4: AR demyelinating
CMTX - X-linked.

Question 4

Acquired Neuropathies:

Answer 4

GBS (AIDP=acute inflammatory demyelinating polyradiculoneuropathy)

Question 5

Hereditary anterior horn cell (AHC) disease:

Answer 5

Spinal Muscular Atrophy = SMA

Question 6

Acquired anterior horn cell (AHC) disease:

Answer 6

Poliomyelitis

Question 7

Hereditary NMJ disease:

Answer 7

Congenital Myasthenic Syndromes

Question 8

Acquired NMJ diseases:

Answer 8

1. Myasthenia Gravis

2. Botulism