Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. Disease data Classification Disease Synonyms ANOAC ANOAC Zespół neuropatii aksonalnej, zaniku nerwu wzrokowego i deficytu poznawczego Axonal neuropathy-optic atrophy-cognitive deficit syndrome ORPHA code 457205 OMIM code - ICD10 code G60.8 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl