Х-зчеплена спастична параплегія, тип 16
ORPHA:100997· ICD-10 G11.4· X-linked spastic paraplegia type 16
Визначення(English summary)
A complex, hereditary, spastic paraplegia characterized by delayed motor development, spasticity, and inability to walk, later progressing to quadriplegia, motor aphasia, bowel and bladder dysfunction. Patients also present with vision problems and mild intellectual disability. The disease affects only males.
- Поширеність
- <1 / 1 000 000
- Успадкування
- X-linked recessive
- Вік початку
- Infancy