hereditary spastic paraplegia 74
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.
MONDO:0015150
complex hereditary spastic paraplegia
is_a
IBA57 hereditary spastic paraplegia
exact
SPG74
exact
hereditary spastic paraplegia caused by mutation in IBA57
exact
hereditary spastic paraplegia type 74
exact
spastic paraplegia 74, autosomal recessive
related
SPAC21E11.07