Charcot-Marie-Tooth disease X-linked dominant 1
ORPHA: 101075
Overview
Charcot-Marie-Tooth disease X-linked that has material basis in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13
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 dominant 1, sourced from HPO and Orphanet clinical annotations.
Sensory neuropathyAreflexiaPes cavusDistal upper limb amyotrophyDistal lower limb amyotrophyAbnormal nerve conduction velocityImpaired pain sensationHearing impairmentAtaxiaDysarthriaExcessive daytime somnolenceGait disturbanceTremorLanguage impairmentScoliosisKyphosis
Classification & Codes
Orphanet Code
ORPHA:101075Charcot-Marie-Tooth disease X-linked dominant 1
| Orphanet | ORPHA:101075 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO