Charcot-Marie-Tooth disease type 2A2
ORPHA: 99947
Overview
Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the MFN2 gene on chromosome 1p36.2
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 2A2, sourced from HPO and Orphanet clinical annotations.
Abnormal foot morphologySensory axonal neuropathyAbsent Achilles reflexEMG: chronic denervation signsSomatic sensory dysfunctionFoot dorsiflexor weaknessAbnormality of the handPes cavusFrequent fallsHand tremorImpaired vibratory sensationAreflexia of lower limbsParesis of extensor muscles of the big toeDistal sensory impairmentMuscle spasmDifficulty climbing stairsAnkle hypermobilityPoor fine motor coordinationImpaired pain sensationDifficulty runningDistal lower limb muscle weaknessImpaired temperature sensationFoot painHand muscle weaknessFlexion contractureVocal cord paralysisHoarse voiceDysphoniaAbnormal spinal cord morphologyPostural tremorSteppage gaitParesthesiaBabinski signQuadriceps muscle weaknessAbsent patellar reflexesInability to walk by childhood/adolescenceDistal lower limb amyotrophyRestless legsUpper limb painTriceps weaknessHydrocephalusSensorineural hearing impairmentOptic atrophyNyctalopiaScoliosis
Classification & Codes
Orphanet Code
ORPHA:99947Charcot-Marie-Tooth disease type 2A2
| Orphanet | ORPHA:99947 |
| Treatments | 0 drug(s) |
| Symptoms on record | 45 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO