DMD

Question 1

What is Duchenne’s muscular dystrophy?

Answer 1

Mutations in dystrophin gene (X-linked recessive) result in near total loss of dystrophin - muscles get replaced by fibroadipose tissue

Frameshift mutation resulting in one or both of binding sites of muscle membrane to actin lost

Question 2

What are clinical features of DMD?

Answer 2

Boys age 1-6
Waddling gait
Progressive proximal muscle weakness
Calf pseudohypertrophy
Gower's sign - child uses arms to stand up from squatted position, hands climb up legs
Respiratory impairment and ifnections
Cardiomyopathy

Question 3

What is management for DMD?

Answer 3

Interdisciplinary

Prednisolone

Question 4

What is Becker’s muscular dystrophy?

Answer 4

Non-framshift insertion in dystrophin gene resulting in both binding sites being presented leading to milder dystrophinopathy