Autosomal dominant spastic paraplegia type 4

Engelsk navn: Autosomal dominant spastic paraplegia type 4
Engelske synonym: SPG4


A rare form of hereditary spastic paraplegia with high intrafamilial clinical variability, characterized in most cases as a pure phenotype with an adult onset (mainly the 3rd to 5th decade of life, but that can present at any age) of progressive gait impairment due to bilateral lower-limb spasticity and weakness as well as very mild proximal weakness and urinary urgency. In some cases, a complex phenotype is also reported with additional manifestations including cognitive impairment, cerebellar ataxia, epilepsy and neuropathy. A faster disease progression is noted in patients with a later age of onset.

Fra Orphanet

ORPHA: 100985
Klassifiseringsnivå: Disorder
ICD-10: G11.4

Mer informasjon

Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)