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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