Autosomalna recesywna paraplegia spastyczna typu 74

Kod Orpha: 468661Kod OMIM: 616451

Definicja

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.

Dane
Klasyfikacja

Choroba

Synonimy
SPG74
SPG74
Kod ORPHA
468661
Kod OMIM
616451
Kod ICD10
G11.4
Kod ICD11
-

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