hereditary spastic paraplegia 12
MeSH: C537484ORPHA: 100993
Overview
hereditary spastic paraplegia that has material basis in mutation in the RTN2 gene on chromosome 19q13
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 12, sourced from HPO and Orphanet clinical annotations.
Gait disturbancePes cavusMale sexual dysfunctionSpinal cord lesionBowel incontinenceUpper limb hyperreflexiaHyperreflexiaLower limb spasticityDegeneration of the lateral corticospinal tractsProgressive spastic paraplegiaLower limb muscle weaknessUrinary urgencyUrinary incontinenceSpastic gaitLimb ataxiaImpaired vibration sensation in the lower limbsClonusMuscle spasmBabinski signLower limb amyotrophyImpaired proprioceptionFemale sexual dysfunction
Classification & Codes
MeSH Code
C537484Orphanet Code
ORPHA:100993hereditary spastic paraplegia 12
| MeSH | C537484 |
| Orphanet | ORPHA:100993 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO