Which statement best describes diagnosing MD?

• A. It is based on clinical presentation alone
• B. It is based on clinical presentation and testing
• C. It is based on imaging alone
• D. It is based on genetic testing alone

Answer: (B)

Diagnosing muscular dystrophy relies on combining what is seen in the patient’s history and exam with objective tests to confirm and subtype the condition. The clinical picture—progressive proximal weakness, difficulty rising, toe walking, and calf enlargement—raises strong suspicion but isn’t unique to MD, so tests are needed to prove it. Objective data like elevated serum creatine kinase show ongoing muscle damage; electromyography can reveal a myopathic pattern; a muscle biopsy can demonstrate dystrophic changes in the muscle tissue. Genetic testing can identify the specific mutation responsible, which often confirms the exact MD subtype. Imaging can support assessment and guide where to biopsy, but it cannot diagnose MD on its own. So, diagnosing MD is best described as integrating clinical presentation with testing to provide a definitive diagnosis and subtype.