How rare is Charcot-Marie-Tooth disease type X?

Charcot-Marie-Tooth disease type X is classified as uncommon. The estimated prevalence is approximately 1-9 in 100,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Charcot-Marie-Tooth disease type X diagnosed?

Information about the diagnosis process is currently limited for this condition.

Are there treatments for Charcot-Marie-Tooth disease type X?

Information about treatment options is currently limited for this condition.

What complications might arise from Charcot-Marie-Tooth disease type X?

Complications from Charcot-Marie-Tooth disease type X can vary widely among individuals. Some people may experience more severe challenges with nerve function, which can affect their mobility and daily activities. It's important to monitor any changes and work with healthcare providers to manage these complications.

How does Charcot-Marie-Tooth disease type X affect daily life?

Living with Charcot-Marie-Tooth disease type X can present challenges, especially related to movement and coordination. People may find it harder to walk or perform tasks that require fine motor skills. Support from family, friends, and healthcare professionals can help improve daily life and manage these difficulties.

What is the prognosis for someone with Charcot-Marie-Tooth disease type X?

The prognosis for Charcot-Marie-Tooth disease type X is not well-defined due to limited information. However, the impact on quality of life can differ from person to person. Regular check-ups and supportive care can help manage symptoms and improve overall well-being.

Are there any specific symptoms unique to Charcot-Marie-Tooth disease type X?

Currently, information about specific symptoms unique to Charcot-Marie-Tooth disease type X is limited. However, since it affects the nerves in the arms and legs, individuals may experience varying degrees of weakness or numbness. It's essential to discuss any symptoms with a healthcare provider for better understanding and management.

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Charcot-Marie-Tooth disease type X (CMTX) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Charcot-Marie-Tooth disease type X

MONDO:0018994

Also known as:CMTXCOWCKX-linked hereditary motor and sensory neuropathy

Find Clinical TrialsTrials

Overview

A subtype of Charcot-Marie-Tooth disease with genetic defects on the X chromosome.

OnsetJUVENILE

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.

No HPO annotations are available for this condition.

Age of onset: adolescence.

GeneReviews

Clinical Guidance

Neuropathy. Manifestations typically develop between ages five and 25 years; many males are symptomatic by early adolescence . Earlier onset with delayed walking in infancy as well as later onset in the fourth and subsequent decades can occur. In some individuals, manifestations can be extremely mild and go unrecognized by the individual and/or physician. Clinical manifestations can vary, even within the same family. Although both men and women are affected, manifestations tend to be less severe in women because of X-chromosome inactivation, as a result of which some women may remain asymptomatic .

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

GJB1 Charcot-Marie-Tooth neuropathy with or without central nervous system dysfunction (CMT1X) should be suspected in an individual with the following clinical findings, electrophysiologic findings, and family history.

Clinical findings

Peripheral motor and sensory neuropathy with or without the following:
Occasionally fixed CNS abnormalities

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Charcot-Marie-Tooth disease type X. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Individuals with GJB1 Charcot-Marie-Tooth neuropathy with or without central nervous system dysfunction (CMT1X) are often evaluated and managed by a multidisciplinary team that includes neurologists, physiatrists, orthopedic surgeons, physical therapists, and occupational therapists.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with CMT1X , the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 3.

Recommended Surveillance for Individuals with CMT1X

System/Concern | Evaluation | Frequency

Neurologic

| • Screening neurologic exam focused on motor system cerebellar function

Eval for pain

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

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

25 publications have been identified in PubMed for Charcot-Marie-Tooth disease type X. Research spans Case Report / Case Series (44%), Basic Science / Preclinical (24%), and Diagnostic / Biomarker (12%).

Research Type	Count	% of Total
Patient case studies	11	44%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 2:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:64747

GARD

Genetic and Rare Diseases Info Center

GARD:12444

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?

FAQ

Frequently Asked Questions

Common questions about Charcot-Marie-Tooth disease type X

Charcot-Marie-Tooth disease type X is a subtype of Charcot-Marie-Tooth disease. This condition is linked to genetic defects on the X chromosome. Because it is inherited in an X-linked manner, it can affect the nerves in both the arms and legs. This condition belongs to a group of disorders that impair the peripheral nerves, though the specific impact on nerve function and its progression may vary between individuals. Information about the full range of symptoms and clinical details is currently limited. People with this condition may experience challenges related to nerve function based on the genetic defect involved.

Information about symptoms is currently limited for this condition.

Charcot-Marie-Tooth disease type X is caused by genetic defects on the X chromosome. The X-linked pattern of inheritance means that the gene abnormality is passed down through families, affecting the peripheral nerves. Detailed genetic mechanisms and other risk factors are not provided in the available sources. Associated genes include AIFM1, PRPS1, PDK3, GJB1.

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Charcot-Marie-Tooth disease type X

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Neurologic

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Differential Diagnosis

Neurologic

Musculoskeletal

Hearing

Other

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Musculoskeletal

Foot exam

Recent Publications

Charcot-Marie-Tooth disease type X

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Neurologic

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Charcot-Marie-Tooth disease type X?

What are the symptoms of Charcot-Marie-Tooth disease type X?

What causes Charcot-Marie-Tooth disease type X?

How rare is Charcot-Marie-Tooth disease type X?

How is Charcot-Marie-Tooth disease type X diagnosed?

Are there treatments for Charcot-Marie-Tooth disease type X?

What complications might arise from Charcot-Marie-Tooth disease type X?

How does Charcot-Marie-Tooth disease type X affect daily life?

What is the prognosis for someone with Charcot-Marie-Tooth disease type X?

Are there any specific symptoms unique to Charcot-Marie-Tooth disease type X?

Differential Diagnosis

Neurologic

Musculoskeletal

Hearing

Other

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Musculoskeletal

Foot exam

Recent Publications