Infantile Neuroaxonal Dystrophy

INAD is a rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. Clinical features include psychomotor regression, hypotonia, spasticity, visual impairment, and progressive neurologic deterioration. Pathophysiology involves axonal spheroid formation and widespread neuronal degeneration. Diagnosis relies on genetic testing and neuroimaging, often revealing cerebellar atrophy. Management is supportive, focusing on symptom control, physiotherapy, and nutritional support; prognosis is poor, with early childhood mortality common.