hereditary spastic paraplegia 6
Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.
MONDO:0019064
hereditary spastic paraplegia
is_a
FSP3
exact
NIPA1 hereditary spastic paraplegia
exact
SPG6
exact
autosomal dominant spastic paraplegia type 6
exact
familial spastic paraplegia autosomal dominant 3
related
hereditary spastic paraplegia caused by mutation in NIPA1
exact
hereditary spastic paraplegia type 6
exact
spastic paraplegia 6
related
spastic paraplegia 6, autosomal dominant
related