Інфантильна аксональна моторна та сенсорна нейропатія - атрофія зорового нерва - нейродегенеративний синдром
ORPHA:457205· ICD-10 G60.8· Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy