Diagnosis of MD is based on?

• A. Based on clinical presentation and testing
• B. Genetic testing only
• C. Imaging only
• D. Family history only

Answer: (C)

Diagnosing muscular dystrophy comes from putting together what you see in the patient with objective tests, not from one single test. Clinically, you look for a pattern of weakness that starts in a characteristic distribution (often proximal muscles), with a progression over time and signs like a Gower maneuver. Laboratory and genetic testing then provide the confirmation and help classify the subtype. Creatine kinase levels are typically elevated due to muscle membrane damage, and electromyography shows a myopathic pattern. A muscle biopsy can reveal dystrophic changes if needed, but nowadays genetic testing often identifies the exact pathogenic variant in the dystrophin gene (in Duchenne/Becker) or other MD genes, confirming the diagnosis and guiding management. Imaging, such as MRI, can illustrate which muscles are involved and monitor progression, and it may guide biopsy, but it isn’t sufficient on its own to diagnose MD, since imaging findings aren’t specific to one MD type. Family history helps assess inheritance risk but isn’t definitive because de novo mutations can occur. In short, diagnosis is best made by integrating clinical presentation with genetic and other testing, with imaging serving a supportive role.