Charcot-Marie-Tooth disease axonal type 2K
ORPHA: 101097
Overview
Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q
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 axonal type 2K, sourced from HPO and Orphanet clinical annotations.
Peripheral axonal degenerationImpaired vibratory sensationDistal sensory impairmentSkeletal muscle atrophyAxonal lossSensorimotor neuropathyDecreased number of small peripheral myelinated nerve fibersChronic axonal neuropathyImpaired pain sensationDistal upper limb muscle weaknessProximal lower limb muscle weaknessProximal upper limb muscle weaknessDistal lower limb muscle weaknessImpaired tactile sensationPeripheral demyelinationAbnormality of the vertebral columnSplit handAreflexiaReduced tendon reflexesFlexion contractureVocal cord paresisHoarse voicePes cavusTalipes equinovarusUnsteady gaitFrequent fallsLoss of ambulationQuadriceps muscle weaknessImpaired distal proprioceptionClusters of axonal regenerationIntrinsic hand muscle atrophyPeroneal muscle weaknessHand muscle weaknessImpaired tandem gaitAbnormal thorax morphologyMotor delay
Classification & Codes
Orphanet Code
ORPHA:101097Charcot-Marie-Tooth disease axonal type 2K
| Orphanet | ORPHA:101097 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO