/hereditary spastic paraplegia 77

hereditary spastic paraplegia 77

Rare Disease

MONDO:0014882

Also Known As

FARS2 hereditary spastic paraplegiaSPG77autosomal recessive spastic paraplegia 77hereditary spastic paraplegia caused by mutation in FARS2hereditary spastic paraplegia type 77spastic paraplegia 77, autosomal recessiveautosomal recessive spastic paraplegia type 77

Definition

Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.