X-linked Spinal Muscular Atrophy

X-linked SMA is a rare neuromuscular disorder characterized by degeneration of anterior horn cells, leading to muscle weakness and atrophy. Etiology involves mutations in UBA1 or related genes. Clinical features include hypotonia, delayed motor milestones, and respiratory compromise. Diagnosis relies on genetic testing and electrophysiological studies. Management includes supportive care, respiratory support, and emerging gene therapies; prognosis depends on severity and timely intervention.