Charcot-Marie-Tooth disease type 2Y
ORPHA: 435387
Overview
Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the VCP gene on chromosome 9p13
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 2Y, sourced from HPO and Orphanet clinical annotations.
Decreased nerve conduction velocityGait disturbancePes cavusGait imbalanceImpaired vibration sensation in the lower limbsDistal muscle weaknessDistal sensory impairmentAbsent Achilles reflexPeripheral axonal neuropathyDistal amyotrophyPoor fine motor coordinationSensorimotor neuropathyDistal upper limb muscle weaknessFoot dorsiflexor weaknessDifficulty runningHand muscle atrophyImpaired tactile sensationAtypical behaviorEmotional labilityDysarthriaReduced tendon reflexesHammertoeDyspneaBroad-based gaitMemory impairmentFrequent fallsLumbar hyperlordosisElevated circulating creatine kinase concentrationSteppage gaitMuscle spasmParesthesiaDifficulty climbing stairsScapular wingingProximal muscle weaknessQuadriceps muscle weaknessLimited knee flexionImpaired distal vibration sensationAbolished vibration senseImpaired pain sensationProximal lower limb muscle weaknessProximal upper limb muscle weaknessDistal lower limb muscle weaknessTip-toe gait
Classification & Codes
Orphanet Code
ORPHA:435387Charcot-Marie-Tooth disease type 2Y
| Orphanet | ORPHA:435387 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO