Diagnosis typically involves a combination of clinical examination, family history, and specialized tests. Key diagnostic steps include: - Clinical Examination: A pediatrician will look for muscle enlargement and assess muscle strength. - Genetic Testing: To confirm conditions like Duchenne Muscular Dystrophy. - Muscle Biopsy: To examine the muscle tissue for fat and connective tissue infiltration. - Imaging Studies: MRI or ultrasound may be used to visualize muscle tissue changes. - Blood Tests: Elevated levels of creatine kinase (CK) can indicate muscle damage.
