Charcot-Marie-Tooth disease type 4A
ORPHA: 99948
Overview
Charcot-Marie-Tooth disease type 4 that has material basis in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21
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 4A, sourced from HPO and Orphanet clinical annotations.
Decreased nerve conduction velocityAbnormal foot morphologyPes cavusDistal muscle weaknessDistal sensory impairmentEMG abnormalityDistal amyotrophyPoor fine motor coordinationPoor gross motor coordinationMotor delayAreflexiaVocal cord paresisHoarse voiceHammertoeBilateral talipes equinovarusUnsteady gaitInability to walkDecreased number of large peripheral myelinated nerve fibersLimited interphalangeal movementLimited wrist movementImpaired distal proprioceptionImpaired distal vibration sensationImpaired distal tactile sensationChronic axonal neuropathyImpaired pain sensationDecreased Achilles reflexJoint contracture of the handHyporeflexia of upper limbsHand muscle weaknessRestrictive ventilatory defectFrequent fallsScoliosisShoulder girdle muscle weaknessQuadriceps muscle weaknessDemyelinating peripheral neuropathyNeuropathic spinal arthropathyGeneralized neonatal hypotoniaDenervation of the diaphragmMotor conduction blockWeakness of facial musculature
Classification & Codes
Orphanet Code
ORPHA:99948Charcot-Marie-Tooth disease type 4A
| Orphanet | ORPHA:99948 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO