The diagnosis of SMA involves a combination of clinical evaluation, genetic testing, and sometimes muscle biopsy. Key steps include:
Clinical Signs and Symptoms: Observation of muscle weakness, poor muscle tone, and delayed motor milestones. Genetic Testing: Confirming the diagnosis by identifying mutations in the SMN1 gene through a blood test. Electromyography (EMG) and Nerve Conduction Studies: These tests assess the electrical activity of muscles and the speed of nerve signals.
