Spastic paraplegia 6
Alternate names
SPG6; Familial spastic paraplegia autosomal dominant 3; FSP3
Definition
A rare 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.
NIH genetic and rare disease info
Spastic paraplegia 6 is a rare disease.
Resources
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