/hereditary spastic paraplegia 74

hereditary spastic paraplegia 74

Rare Disease

MONDO:0014644

Also Known As

IBA57 hereditary spastic paraplegiaSPG74autosomal recessive spastic paraplegia 74hereditary spastic paraplegia caused by mutation in IBA57hereditary spastic paraplegia type 74autosomal recessive spastic paraplegia type 74spastic paraplegia 74, autosomal recessive

Definition

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.