Duchenne Muscular Dystrophy

Question 1

What is DMD?

Answer 1

An X-linked recessive inherited disorder in the dystrophin gene which is needed for normal muscular function

Question 2

How does DMD present?

Answer 2

• Progressive proximal muscle weakness from 5 years
• Calf pseudohypertrophy
• Gowers sign: Child uses arms to stand up from a squatted position
• Intellectual impairment is also common

Question 3

How is DMD investigated?

Answer 3

• Raised CK
• Genetic testing

Question 4

How is DMD managed?

Answer 4

• Supportive treatment
• Management of complications such as scoliosis and heart failure
• Patient generally live till around 25-30 years old