Spastic paraplegia-facial-cutaneous lesions syndrome
ORPHA:2819· ICD-10 G11.4
Definition
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.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Infancy