congenital muscular dystrophy

How is CMD Diagnosed?

Diagnosis of CMD involves a combination of clinical evaluation, family history, and diagnostic tests. Key diagnostic tools include:
- Genetic Testing: Identifies mutations in genes associated with CMD.
- Muscle Biopsy: Examines muscle tissue for characteristic changes.
- Electromyography (EMG): Measures electrical activity in muscles.
- Magnetic Resonance Imaging (MRI): Visualizes muscle structure and abnormalities.
Early diagnosis is crucial for managing symptoms and improving the quality of life for affected infants.

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