Синдром спастичної параплегії з лицьово-шкірними ураженнями
ORPHA:2819· ICD-10 G11.4· Spastic paraplegia-facial-cutaneous lesions syndrome
Визначення(English summary)
A complex form of hereditary spastic paraplegia characterized by delays in motor development followed by a slowly progressive spastic paraplegia (affecting mainly lower extremities) associated with a desquamating facial rash with butterfly distribution (presenting at around two months of age) and dysarthria. There have been no further descriptions in the literature since 1982.
- Поширеність
- <1 / 1 000 000
- Вік початку
- Infancy