Charcot-Marie-Tooth disease X-linked recessive 3
MeSH: C535303ORPHA: 101077
Overview
Charcot-Marie-Tooth disease X-linked that has material basis in variation in the region Xq26
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 3, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceMotor delayAreflexiaAbnormal foot morphologyPes cavusDecreased motor nerve conduction velocitySomatic sensory dysfunctionDistal amyotrophySensorimotor neuropathyEquinovarus deformityDistal lower limb amyotrophyIntrinsic hand muscle atrophyFoot dorsiflexor weaknessProgressive distal muscle weaknessHand muscle weaknessDelayed ability to walkHyporeflexiaTremorHip dysplasiaRestrictive ventilatory defectInability to walkScoliosisPeripheral axonal neuropathyDemyelinating peripheral neuropathyDistal upper limb amyotrophyPes valgusProximal lower limb muscle weakness
Classification & Codes
MeSH Code
C535303Orphanet Code
ORPHA:101077Charcot-Marie-Tooth disease X-linked recessive 3
| MeSH | C535303 |
| Orphanet | ORPHA:101077 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO