Infantile Neuroaxonal Dystrophy

Keywords Disease names and synonyms Definition/Diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Management Unresolved questions References Abstract Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder with onset in the first or second year of life. Frequency is unknown. It is characterized by a progressive motor and mental deterioration, bilateral pyramidal tract signs, marked hypotonia and early visual disturbances without epileptic seizures. The pathological hallmark of the disease is the presence of axonal swellings and "spheroid bodies" throughout central and peripheral system, evidenced by skin, nerve, conjunctiva, and rectum biopsy. Electrophysiological and radiological studies may be helpful for the diagnosis, which is based on the combination of clinical and pathological aspects. The basic metabolic and genetic defect is unknown and currently no effective treatment is available. Management includes physiotherapy and symptomatic treatment of spasticity.