29th April 2024

A 16-year-old boy presents with progressive difficulty in walking and frequent falls.

A 16-year-old boy presents with progressive difficulty in walking and frequent falls. His mother mentions that he has been increasingly using his arms to help himself stand up from a sitting position. On examination, the boy shows significant muscle wasting in his thighs and upper arms. He also has mild scapular winging and a pronounced lordotic posture. There is a family history of similar symptoms in male relatives.

Investigations:

Serum creatine kinase (CK): Elevated

Electromyography (EMG): Myopathic pattern

Genetic testing: Mutation in the dystrophin gene

Which is the most likely diagnosis?