Autosomal recessiv spastisk paraplegi type 74


Engelsk navn: Autosomal recessive spastic paraplegia type 74
Engelske synonym: SPG74


Definisjon

Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic paraplegia-optic atrophy-neuropathy-related (SPOAN-like) disorder characterized by childhood onset of mild to moderate spastic paraparesis which manifests with gait impairment that very slowly progresses into late adulthood, hyperactive patellar reflex and bilateral extensor plantar response, in association with optic atrophy and typical symptoms of peripheral neuropathy, including reduced or absent ankle reflexes, lower limb atrophy and distal sensory impairment. Reduced visual acuity and pes cavus are frequently reported.

Fra Orphanet

ORPHA: 468661
Klassifiseringsnivå: Disorder
ICD-10: G11.4

Mer informasjon


Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)