Charcot-Marie-Tooth disease axonal type 2K
Findings
No curated finding names Charcot-Marie-Tooth disease axonal type 2K yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.
Definition from the Mondo Disease Ontology (MONDO:0011916), read 2026-09-29. CC BY 4.0.
Features
36 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.
- Axonal lossHPOHP:0003447
- Very frequent (80% to 99% of cases)
- Chronic axonal neuropathyHPOHP:0007267
- Very frequent (80% to 99% of cases)
- Decreased number of small peripheral myelinated nerve fibersHPOHP:0007249
- Very frequent (80% to 99% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Very frequent (80% to 99% of cases)
- Distal sensory impairmentHPOHP:0002936
- Very frequent (80% to 99% of cases)
- Distal upper limb muscle weaknessHPOHP:0008959
- Very frequent (80% to 99% of cases)
- Impaired pain sensationHPOHP:0007328
- Very frequent (80% to 99% of cases)
- Impaired tactile sensationHPOHP:0010830
- Very frequent (80% to 99% of cases)
- Impaired vibratory sensationHPOHP:0002495
- Very frequent (80% to 99% of cases)
- Peripheral axonal degenerationHPOHP:0000764
- Very frequent (80% to 99% of cases)
- Peripheral demyelinationHPOHP:0011096
- Very frequent (80% to 99% of cases)
- Proximal lower limb muscle weaknessHPOHP:0008994
- Very frequent (80% to 99% of cases)
Reported absent (1)
- Decreased nerve conduction velocityHPOHP:0000762
Show the remaining 24
- Proximal upper limb muscle weaknessHPOHP:0008997
- Very frequent (80% to 99% of cases)
- Sensorimotor neuropathyHPOHP:0007141
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
- Abnormality of the vertebral columnHPOHP:0000925
- Frequent (30% to 79% of cases)
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- Clusters of axonal regenerationHPOHP:0007233
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 · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: Charcot-Marie-Tooth disease axonal type 2K
- Also called
- ARCMT2Kautosomal recessive axonal Charcot-Marie-Tooth disease type 2Kautosomal recessive axonal CMT4C4autosomal recessive Charcot-Marie-Tooth disease with hoarsenessCharcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K