Kennedy Disease

Kennedy disease, or spinal and bulbar muscular atrophy, is an X-linked recessive neurodegenerative disorder caused by CAG repeat expansion in the AR gene. Clinical features include progressive proximal limb weakness, bulbar dysfunction, gynecomastia, and androgen insensitivity. Pathophysiology involves toxic gain-of-function of the androgen receptor protein, leading to motor neuron degeneration. Diagnosis is confirmed genetically. Management is supportive, focusing on physical therapy, speech therapy, and endocrine care; prognosis is slowly progressive with normal life expectancy.