Аутосомно-рецесивна вроджена мозочкова атаксія, зумовлена дефіцитом гена GRID2
ORPHA:363432· ICD-10 G11.1· Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Визначення(English summary)
A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal