Charcot-Marie-Tooth disease axonal type 2Z
ORPHA: 466768
Overview
Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the MORC2 gene on chromosome 22q12
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 2Z, sourced from HPO and Orphanet clinical annotations.
Reduced tendon reflexesDistal muscle weaknessSensory axonal neuropathyLower limb amyotrophyMixed demyelinating and axonal polyneuropathyDistal lower limb amyotrophyDistal lower limb muscle weaknessAbnormality of peripheral somatosensory evoked potentialsIntellectual disabilityGait disturbanceSpecific learning disabilityTremorUpper motor neuron dysfunctionImpaired vibratory sensationAbnormal peripheral myelinationSomatic sensory dysfunctionUpper limb muscle weaknessBabinski signDistal amyotrophyFunctional motor deficitMotor axonal neuropathyDecreased distal sensory nerve action potentialProximal upper limb amyotrophyDifficulty runningUpper limb amyotrophyJoint contracture of the handImpaired tactile sensationFatigueFlexion contracture of fingerAbnormal motor nerve conduction velocityHearing impairmentNeck muscle weaknessAtopic dermatitisGlobal developmental delayHypertoniaAbnormally high-pitched voicePes cavusAbnormal speech patternFasciculationsMyokymiaAbnormal cerebral white matter morphologyInability to walkGeneralized muscle weaknessLimb-girdle muscle weaknessMuscle spasmProximal muscle weaknessLimb-girdle muscle atrophyCongenital finger flexion contracturesAtrophy of the spinal cordPeriventricular leukomalaciaSpinal muscular atrophyDyschromatopsiaAbnormal retinal pigmentationDistal upper limb muscle weaknessProximal lower limb muscle weaknessProximal upper limb muscle weaknessFoot dorsiflexor weaknessBrain atrophyAbnormal myelinationTongue atrophyTip-toe gaitHand muscle weaknessTongue tremorUrinary incontinenceMicrocephalyCataractSeizureCerebellar atrophyGeneralized hypotoniaAbnormal facial shapeRespiratory insufficiency due to muscle weaknessDiaphragmatic paralysis
Classification & Codes
Orphanet Code
ORPHA:466768Charcot-Marie-Tooth disease axonal type 2Z
| Orphanet | ORPHA:466768 |
| Treatments | 0 drug(s) |
| Symptoms on record | 72 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO