Hereditary spastic paraplegia 77
Hereditary spastic paraplegia 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.
Also known as FARS2 hereditary spastic paraplegia, hereditary spastic paraplegia caused by mutation in FARS2, hereditary spastic paraplegia type 77, spastic paraplegia 77, autosomal recessive, SPG77 — per MONDO