Charcot-Marie-Tooth disease X-linked recessive 5
ORPHA: 99014
Overview
Charcot-Marie-Tooth disease X-linked that has material basis in loss-of-function mutation in the PRPS1 gene on chromosome Xq22
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 Charcot-Marie-Tooth disease X-linked recessive 5, sourced from HPO and Orphanet clinical annotations.
Hearing impairmentOptic atrophySensory neuropathyAtaxiaDysarthriaExcessive daytime somnolenceAreflexiaGait disturbanceMuscle weaknessTremorPes cavusParaparesisLanguage impairmentScoliosisKyphosisSkeletal muscle hypertrophyImpaired pain sensationPeripheral neuropathyAbnormal nerve conduction velocity
Classification & Codes
Orphanet Code
ORPHA:99014Charcot-Marie-Tooth disease X-linked recessive 5
| Orphanet | ORPHA:99014 |
| Treatments | 0 drug(s) |
| Symptoms on record | 19 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO