How is LAMA2-RD diagnosed?

Diagnosis usually involves a combination of: a physical examination (looking at symptoms and medical history); a blood test measuring creatine kinase (CK) (a muscle enzyme that leaks into the blood when muscle cells are damaged, and is typically very high in LAMA2-RD); genetic testing to identify mutations in the LAMA2 gene; a brain MRI (brain scan), which often shows a characteristic pattern; and sometimes a muscle MRI or muscle biopsy (a small sample of muscle tissue tested in a laboratory).