Giant Axonal Neuropathy

Giant axonal neuropathy is a rare autosomal recessive disorder caused by mutations in the GAN gene, affecting intermediate filaments and leading to widespread peripheral and central nervous system involvement. Clinical features include progressive sensorimotor neuropathy, gait abnormalities, and kinky hair. Diagnosis is confirmed through genetic testing and electrophysiologic studies. Management is supportive, including physical therapy, orthopedic interventions, and symptomatic care. Prognosis is poor, with progressive neurological decline and early mortality.