Аутосомно-рецесивна спастична параплегія, тип 11
ORPHA:2822· ICD-10 G11.4· Autosomal recessive spastic paraplegia type 11
Визначення(English summary)
A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes.
- Поширеність
- 1-9 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Adolescent, Adult, Childhood, Infancy