Charcot-Marie-Tooth disease type 4A

MONDO:0008961Mondo

Findings

No curated finding names Charcot-Marie-Tooth disease type 4A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Charcot-Marie-Tooth disease type 4A (CMT4A) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early-onset (infancy to early childhood) of severe, rapidly progressing demyelinating, axonal, or intermediate sensorimotor neuropathy usually affecting first, and more severely, the distal lower extremities and later the proximal muscles and upper extremities. Nerve conduction velocities range from very slow to normal. Apart from the typical CMT phenotype (distal muscle weakness and atrophy, sensory loss, frequent pes cavus foot deformity), patients commonly present delayed motor development, vocal cord paresis, mild sensory loss, abolished deep tendon reflexes, and skeletal deformities.

Definition from the Mondo Disease Ontology (MONDO:0008961), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal recessive inheritance
Onset and course: Infantile onset

Features

45 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Decreased motor nerve conduction velocityHPOHP:0003431
- 8 of 8 reported patients
Decreased number of peripheral myelinated nerve fibersHPOHP:0003380
- 2 of 2 reported patients
Decreased sensory nerve conduction velocityHPOHP:0003448
- 8 of 8 reported patients
Onion bulb formationHPOHP:0003383
- 2 of 2 reported patients
Segmental peripheral demyelinationHPOHP:0007107
- 2 of 2 reported patients
Abnormal foot morphology

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

GDAP1HGNC:15968
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021

Where it sits

A kind of: Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease type 4

Other names

3 names

Resolves to: Charcot-Marie-Tooth disease type 4A

Also called: Charcot-Marie-Tooth disease type 4 caused by mutation in GDAP1CMT4AGDAP1 Charcot-Marie-Tooth disease type 4

Show the remaining 33

Poor fine motor coordinationHPOHP:0007010
- Very frequent (80% to 99% of cases)
Poor gross motor coordinationHPOHP:0007015
- Very frequent (80% to 99% of cases)
AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
Bilateral talipes equinovarusHPOHP:0001776
- Frequent (30% to 79% of cases)
Chronic axonal neuropathyHPOHP:0007267
- Frequent (30% to 79% of cases)
Decreased Achilles reflexHPOHP:0009072
- Frequent (30% to 79% of cases)
Decreased number of large peripheral myelinated nerve fibersHPOHP:0003387
- Frequent (30% to 79% of cases)
HammertoeHPOHP:0001765
- Frequent (30% to 79% of cases)
Hand muscle weaknessHPOHP:0030237
- Frequent (30% to 79% of cases)
Hoarse voiceHPOHP:0001609
- Frequent (30% to 79% of cases)
Hyporeflexia of upper limbsHPOHP:0012391
- Frequent (30% to 79% of cases)
Impaired distal proprioceptionHPOHP:0006858
- Frequent (30% to 79% of cases)
Impaired distal tactile sensationHPOHP:0006937
- Frequent (30% to 79% of cases)
Impaired distal vibration sensationHPOHP:0006886
- Frequent (30% to 79% of cases)
Impaired pain sensationHPOHP:0007328
- Frequent (30% to 79% of cases)
Inability to walkHPOHP:0002540
- Frequent (30% to 79% of cases)
Joint contracture of the handHPOHP:0009473
- Frequent (30% to 79% of cases)
Limited interphalangeal movementHPOHP:0006064
- Frequent (30% to 79% of cases)
Limited wrist movementHPOHP:0006248
- Frequent (30% to 79% of cases)
Motor delayHPOHP:0001270
- Frequent (30% to 79% of cases)
Unsteady gaitHPOHP:0002317
- Frequent (30% to 79% of cases)
Vocal cord paresisHPOHP:0001604
- Frequent (30% to 79% of cases)
Demyelinating peripheral neuropathyHPOHP:0007108
- Occasional (5% to 29% of cases)
Denervation of the diaphragmHPOHP:0009109
- Occasional (5% to 29% of cases)
Frequent fallsHPOHP:0002359
- Occasional (5% to 29% of cases)
Generalized neonatal hypotoniaHPOHP:0008935
- Occasional (5% to 29% of cases)
Motor conduction blockHPOHP:0012078
- Occasional (5% to 29% of cases)
Neuropathic spinal arthropathyHPOHP:0008443
- Occasional (5% to 29% of cases)
Quadriceps muscle weaknessHPOHP:0003731
- Occasional (5% to 29% of cases)
Restrictive ventilatory defectHPOHP:0002091
- Occasional (5% to 29% of cases)
ScoliosisHPOHP:0002650
- Occasional (5% to 29% of cases)
Shoulder girdle muscle weaknessHPOHP:0003547
- Occasional (5% to 29% of cases)
Weakness of facial musculatureHPOHP:0030319
- Very rare (1% to 4% of cases)