Charcot-Marie-Tooth disease type X
ICD-10: G60.0ORPHA: 3115
Overview
Charcot-Marie-Tooth disease that has material basis in X-linked inheritance of a point mutation in the connexin-32 gene
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 type X, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceNystagmusAreflexiaPes cavusTalipes equinovarusGait ataxiaLimb ataxiaPostural tremorClumsinessUnsteady gaitImpaired vibratory sensationScoliosisKyphoscoliosisDecreased motor nerve conduction velocitySomatic sensory dysfunctionDistal amyotrophyAcute demyelinating polyneuropathySensorimotor neuropathyImpaired pain sensationLower limb muscle weaknessImpaired temperature sensationFrequent fallsUrinary bladder sphincter dysfunctionGenu valgumSkeletal muscle atrophyBabinski signIntrinsic hand muscle atrophy
Classification & Codes
ICD-10 Code
G60.0Orphanet Code
ORPHA:3115Charcot-Marie-Tooth disease type X
| ICD-10 | G60.0 |
| Orphanet | ORPHA:3115 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO