Familial ALS

Familial amyotrophic lateral sclerosis (ALS) is a hereditary form of motor neuron disease, commonly associated with mutations in SOD1, C9orf72, and other genes. Pathophysiology involves degeneration of upper and lower motor neurons, resulting in progressive muscle weakness, atrophy, and spasticity. Diagnosis is based on clinical features, electromyography, and genetic testing. Management is supportive, including respiratory care, nutritional support, and pharmacotherapy (riluzole, edaravone). Prognosis is poor, with median survival of 3–5 years from symptom onset.