Аутосомно-рецесивна атаксія внаслідок дефіциту PEX10
ORPHA:247815· ICD-10 G11.8· Autosomal recessive ataxia due to PEX10 deficiency
Визначення(English summary)
A rare genetic, peroxisomal disease characterized by childhood onset slowly progressive ataxia and axonal motor neuropathy due to PEX 10 deficieny. Marked cerebellar atrophy and pyramidal signs are evident. Patients may present mild mental retardation, intentional tremor, decreased vibration sense and diabetes mellitus. Additional features may include nystagmus, mydriasis, hyperreflexia and involuntary head movement.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Childhood