Duchenne's Muscular Dystrophy

Genetic disease that causes muscle weakness and wasting

Aetiology

• Caused by a defective gene for dystrophin on the X-chromosome - x-linked recessive (phenotype only affects boys, girls can be carriers)

Clinical presentation

• Boys with Duchennes present around 3 – 5 years with weakness in the muscles around their pelvis

• The weakness tends to be progressive and eventually all muscles will be affected

Gower's manoeuvre

• Children with proximal muscle weakness use a specific technique to stand up from a lying position - Gower’s sign