Muscular Dystrophy

Question 1

What is Duchenne muscular dystrophy?

Answer 1

-X-linked recessive inherited disorder

Question 2

Features of DMD

Answer 2

-Progressive proximal muscle weakness from 5 years
-Calf pseudohypertrophy
-Gower’s sign (child uses arms to stand up from squatted position)
-30% intellectual impairment
-Associated with dilated cardiomyopathy

Question 3

Investigation of DMD

Answer 3

-Raised creatinine kinase
-Genetic testing has now replaced muscle biopsy as the way to obtain a definitive diagnosis

Question 4

Describe Becker muscular dystrophy

Answer 4

-Develops after age of 10 years
-Intellectual impairment much less common