Spinal Muscular Atrophy

SMA is a genetic disorder caused by homozygous deletions or mutations in the SMN1 gene, leading to anterior horn cell degeneration. Clinical features include progressive proximal muscle weakness and hypotonia. Pathophysiology involves loss of motor neurons, resulting in muscle atrophy and respiratory compromise. Diagnosis is genetic, supported by electromyography. Management includes disease-modifying therapy (nusinersen, gene therapy), supportive care, and rehabilitation; prognosis varies by SMA type and treatment access.