hereditary spastic paraplegia 13
MeSH: C537485ORPHA: 100994
Overview
hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has material basis in mutation in the HSPD1 on chromosome 2q33
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 13, sourced from HPO and Orphanet clinical annotations.
Spastic paraplegiaUrinary bladder sphincter dysfunctionUrinary incontinenceHyperreflexiaLower limb spasticitySpastic gaitImpaired vibration sensation in the lower limbsBabinski signAbnormal pyramidal signLower limb muscle weaknessUpper limb hyperreflexiaUrinary urgencyPes cavusScoliosisHearing impairmentRod-cone dystrophy
Classification & Codes
MeSH Code
C537485Orphanet Code
ORPHA:100994hereditary spastic paraplegia 13
| MeSH | C537485 |
| Orphanet | ORPHA:100994 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO