Charcot-Marie-Tooth disease type 1E
MeSH: C537986ORPHA: 90658
Overview
Charcot-Marie-Tooth disease type 1 that has material basis in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22)
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 1E, sourced from HPO and Orphanet clinical annotations.
Sensorineural hearing impairmentDecreased nerve conduction velocityDistal sensory impairmentDemyelinating peripheral neuropathyDistal lower limb muscle weaknessAbnormal pupil morphologyGait disturbancePes cavusImpaired vibration sensation in the lower limbsPostural instabilityAreflexia of lower limbsHyporeflexia of lower limbsDistal lower limb amyotrophyCalf muscle hypoplasiaFoot dorsiflexor weaknessPeroneal muscle atrophyHand muscle atrophyImpaired temperature sensationImpaired tactile sensationAbnormality of pain sensationPeroneal muscle weaknessTonic pupilHyporeflexia of upper limbsSlow pupillary light responseHand muscle weaknessAcroparesthesiaTinnitusSplit handGlobal developmental delayHammertoeGait imbalanceInability to walkSteppage gaitEquinovarus deformityTalipes calcaneovarusJoint contracture of the handAnisocoriaProfound sensorineural hearing impairmentCough
Classification & Codes
MeSH Code
C537986Orphanet Code
ORPHA:90658Charcot-Marie-Tooth disease type 1E
| MeSH | C537986 |
| Orphanet | ORPHA:90658 |
| Treatments | 0 drug(s) |
| Symptoms on record | 39 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO