hereditary spastic paraplegia 30
MeSH: C563677ORPHA: 101010
Overview
hereditary spastic paraplegia that has material basis in mutation in the KIF1A gene on chromosome 2q37
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 30, sourced from HPO and Orphanet clinical annotations.
Lower limb spasticitySpastic gaitUnsteady gaitLower limb hyperreflexiaBabinski signProgressive spastic paraplegiaLeg muscle stiffnessAbnormal saccadic eye movementsAtaxiaDistal sensory impairmentSomatic sensory dysfunctionDistal amyotrophySensorimotor neuropathyScissor gaitDiffuse cerebellar atrophy
Classification & Codes
MeSH Code
C563677Orphanet Code
ORPHA:101010hereditary spastic paraplegia 30
| MeSH | C563677 |
| Orphanet | ORPHA:101010 |
| Treatments | 0 drug(s) |
| Symptoms on record | 15 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO