Charcot-Marie-Tooth disease type 2E
MeSH: C537994ORPHA: 99939
Overview
Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21
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 2E, sourced from HPO and Orphanet clinical annotations.
Gait disturbanceAbnormal foot morphologyPeripheral axonal neuropathyUpper limb muscle weaknessSensorimotor neuropathyDemyelinating motor neuropathyLower limb muscle weaknessDemyelinating sensory neuropathyHyporeflexiaPes cavusTalipes calcaneovalgusDistal muscle weaknessEMG: myopathic abnormalitiesSomatic sensory dysfunctionDistal amyotrophyProximal muscle weaknessDifficulty runningAbnormal motor evoked potentialsExtremely elevated creatine kinaseDecreased/absent ankle reflexesMotor delayInability to walkSteppage gaitDecreased nerve conduction velocity
Classification & Codes
MeSH Code
C537994Orphanet Code
ORPHA:99939Charcot-Marie-Tooth disease type 2E
| MeSH | C537994 |
| Orphanet | ORPHA:99939 |
| Treatments | 0 drug(s) |
| Symptoms on record | 24 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO