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autosomal dominant Charcot-Marie-Tooth disease type 2M (CMT2M) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant Charcot-Marie-Tooth disease type 2M

MONDO:0016431

Also known as:CMT2M

Find Clinical TrialsTrials

Overview

A form of axonal Charcot-Marie-Tooth disease, a peripheral motor and sensory neuropathy. CMT2M is characterized by congenital ptosis and early cataract associated to a mildly progressive peripheral neuropathy of variable onset from birth to the 6th decade, pes cavus, reduced to absent ankles tendon reflexes and sometimes neutropenia.

Clinical Trials1 registered · 1 recruiting

Prognosis

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 3 of 12 sources · Last updated Sep 20, 2026, 5:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:228179

GARD

Genetic and Rare Diseases Info Center

GARD:17147

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
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autosomal dominant Charcot-Marie-Tooth disease type 2M

Overview

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team