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autosomal dominant Charcot-Marie-Tooth disease type 2K (CMT2K) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant Charcot-Marie-Tooth disease type 2K

MONDO:0020558

Also known as:CMT2KCharcot-Marie-Tooth disease type 2K

Find Clinical TrialsTrials

Overview

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include common findings: Decreased nerve conduction velocity, Difficulty walking (gait disturbance), Distal muscle weakness, and Distal sensory impairment and others; and sometimes findings: Motor delay.

Organ System	Phenotype Count	Example Features
Muscles	4	Distal muscle weakness, Skeletal muscle atrophy, Proximal muscle weakness

Prognosis

Phenotype severity distribution: 9 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:99944

GARD

Genetic and Rare Diseases Info Center

GARD:9199

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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autosomal dominant Charcot-Marie-Tooth disease type 2K

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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