29th April 2024

A 7-year-old boy is brought to the clinic by his parents, who are concerned about his increasing difficulty with running and climbing stairs.

A 7-year-old boy is brought to the clinic by his parents, who are concerned about his increasing difficulty with running and climbing stairs. His teachers have also noticed that he struggles to get up from the floor, using his hands to “walk” up his legs to stand up, a manoeuvre they described as a “Gower’s sign.” His parents mention that his calves appear unusually large. There is no significant family history of muscular disorders.

Investigations:

Creatine kinase (CK) levels: Significantly elevated

Electromyography (EMG): Myopathic pattern

Genetic testing: Dystrophin gene mutation detected

Which is the most likely diagnosis?