How are Congenital Muscular Dystrophies Diagnosed?
The diagnosis of CMDs is based on a combination of clinical evaluation, family history, and various diagnostic tests. These may include:
Genetic testing to identify mutations in genes associated with CMDs Muscle biopsy to examine the structure and composition of muscle tissue Blood tests to measure levels of creatine kinase (an enzyme that leaks out of damaged muscle cells) Electromyography (EMG) to assess muscle function Magnetic Resonance Imaging (MRI) to visualize muscle tissue
