hereditary spastic paraplegia 77
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.
MONDO:0016387
mitochondrial oxidative phosphorylation disorder
is_a
MONDO:0019064
hereditary spastic paraplegia
is_a
FARS2 hereditary spastic paraplegia
exact
SPG77
exact
hereditary spastic paraplegia caused by mutation in FARS2
exact
hereditary spastic paraplegia type 77
exact
spastic paraplegia 77, autosomal recessive
exact
SPCC736.03c