hereditary spastic paraplegia 2
MeSH: C536857ORPHA: 99015
Overview
hereditary spastic paraplegia that has material basis in mutation in the PLP1 gene on chromosome Xq22.2
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 2, sourced from HPO and Orphanet clinical annotations.
NystagmusOptic atrophySensory neuropathyIntellectual disabilityAtaxiaSpasticityDysarthriaMuscle weaknessHyperreflexiaLimitation of joint mobilitySpastic gaitAbnormality of extrapyramidal motor functionPulmonary embolismRecurrent respiratory infectionsBowel incontinenceBabinski signSpastic/hyperactive bladder
Classification & Codes
MeSH Code
C536857Orphanet Code
ORPHA:99015hereditary spastic paraplegia 2
| MeSH | C536857 |
| Orphanet | ORPHA:99015 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO