Прогресуючий аутосомно-рецесивний синдром атаксії-глухоти
ORPHA:448251· ICD-10 G11.1· Progressive autosomal recessive ataxia-deafness syndrome
Визначення(English summary)
A rare genetic disease characterized by severe progressive sensorineural hearing loss and progressive cerebellar signs including gait ataxia, action tremor, dysmetria, dysdiadochokinesis, dysarthria, and nystagmus. Absence of deep tendon reflexes has also been reported. Age of onset is between infancy and adolescence. Brain imaging may show variable cerebellar atrophy in some patients.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Childhood, Infancy