Catalog

Autosomal dominant spastic paraplegia type 6

No MMS code

Link to WHO Definition

Autosomal dominant spastic paraplegia type 6 – http://id.who.int/icd/entity/434114972

Autosomal dominant spastic paraplegia that 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.