Neuromuscular diseases

Question 1

Duchenne’s Muscular Dystrophy

Answer 1

X-linked recessive, dystrophin deficiency, first 5 years of life, cardiomyopathy,life expectancy early 20s

Question 2

Becker’s Muscular Dystrophy

Answer 2

X-linked, dystrophin deficiency, walk until teens,

Question 3

Congenital Muscular Dystrophy

Answer 3

Autosomal recessive, heterogenous group of disorders

Question 4

Facioscapulohumeral Dystrophy

Answer 4

autosomal dominant, fascial and shoulder muscles first, can’t whistle

Question 5

Emery-Driefuss Muscular Dystrophy

Answer 5

X-lined recessive, emerin defect, present in early adulthood, atrophy of biceps and calf muscles

Question 6

Myotonic Muscular Dystrophy

Answer 6

Autosomal dominant, long thin face, greater distal weakness, reduced IQ

Question 7

Myotonia Congenita (Thomsen’s disease)

Answer 7

Autosomal dominant, myotonia is only feature

Question 8

Spinal Muscular Atrophy (SMA)

Answer 8

Autosomal recessive, upper and lower motor neuron involvement, present in first 2 months, die in first three years

Question 9

Spinal Muscular Atrophy type 2

Answer 9

Autosomal recessive, anterior horn cell involvement, present in first 6-12 months

Question 10

Spinal Muscular Atrophy type 3 (Kugleberg-Welander syndrome)

Answer 10

Autosomal recessive, anterior horn cell involvement, mild form