/hereditary spastic paraplegia 6

hereditary spastic paraplegia 6

Rare Disease

MONDO:0010878

Also Known As

FSP3NIPA1 hereditary spastic paraplegiaSPG6autosomal dominant familial spastic paraplegia type 3autosomal dominant spastic paraplegia 6autosomal dominant spastic paraplegia type 6hereditary spastic paraplegia caused by mutation in NIPA1hereditary spastic paraplegia type 6familial spastic paraplegia autosomal dominant 3familial spastic paraplegia, autosomal dominant, 3spastic paraplegia 6spastic paraplegia 6, autosomal dominant

Definition

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.