hereditary spastic paraplegia 10
MeSH: C537482ORPHA: 100991
Overview
hereditary spastic paraplegia that has material basis in mutation in the KIF5A gene on chromosome 12q13
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with hereditary spastic paraplegia 10, sourced from HPO and Orphanet clinical annotations.
Pes cavusLower limb spasticityLower limb hyperreflexiaBabinski signSensorimotor neuropathyUpper limb amyotrophyModerate intellectual disabilityParkinsonismHearing impairmentRod-cone dystrophyDistal sensory impairmentPeripheral axonal neuropathyDistal lower limb amyotrophyCognitive impairmentSpastic paraparetic gaitAnkle clonusParesthesiaUpper limb spasticityScoliosisUpper motor neuron dysfunctionImpaired distal vibration sensationUpper limb hyperreflexiaUrinary urgencyVaricose veinsDupuytren contractureLeg muscle stiffnessLower limb muscle weaknessSpastic/hyperactive bladder
Classification & Codes
MeSH Code
C537482Orphanet Code
ORPHA:100991hereditary spastic paraplegia 10
| MeSH | C537482 |
| Orphanet | ORPHA:100991 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO