Атаксія Фрідрейха
ORPHA:95· ICD-10 G11.1· Friedreich ataxia
Визначення(English summary)
Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.
- Поширеність
- 1-9 / 100 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Childhood