How rare is Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease is classified as common. The estimated prevalence is approximately 1-5 in 10,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Charcot-Marie-Tooth disease diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Charcot-Marie-Tooth disease?

Information about treatment is currently limited for this condition.

What complications can arise from Charcot-Marie-Tooth disease?

Charcot-Marie-Tooth disease can lead to muscle weakness and atrophy, especially in the feet, legs, hands, and arms. As the disease progresses, some people may have difficulty walking or maintaining balance, which can increase the risk of falls and injuries.

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

Living with Charcot-Marie-Tooth disease can impact daily activities, as muscle weakness and loss of sensation may make tasks like walking, climbing stairs, or holding objects more challenging. Many people find it helpful to use assistive devices, like braces or canes, to improve mobility and safety.

What is the life expectancy for someone with Charcot-Marie-Tooth disease?

Currently, there is limited information about the life expectancy of individuals with Charcot-Marie-Tooth disease. However, many people with this condition lead full lives, and the disease typically does not significantly shorten life expectancy.

Should I see a specialist for Charcot-Marie-Tooth disease?

Yes, it is often recommended to see a specialist, such as a neurologist, for Charcot-Marie-Tooth disease. They can help manage symptoms and provide guidance on treatments and therapies that may improve quality of life.

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Charcot-Marie-Tooth disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Charcot-Marie-Tooth disease

MONDO:0015626

Also known as:hereditary motor and sensory neuropathyhereditary sensorimotor neuropathyCMT

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Overview

An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.

TreatmentsNo approved treatments · 7 in pipeline

Clinical Trials38 registered · 26 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.

GeneReviews

Clinical Guidance

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) is both a neurodevelopmental disorder (with variable degrees of dysgenesis of the corpus callosum and mild-to-severe intellectual disability) and a neurodegenerative disorder (severe progressive sensorimotor neuropathy). The neurologic findings of HMSN/ACC in 64 individuals (ages 2 to 34 years) in the French Canadian population reported by are summarized in , with additional information from , , and . Table 2. Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum: Select Features

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

Consensus diagnostic criteria for hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) have not been established.

Suggestive Findings

Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) should be suspected in individuals with the following clinical, electrophysiologic, and neuroimaging findings, and family history .

Clinical findings

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. An additional 7 compounds hold orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for Charcot-Marie-Tooth disease, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for Charcot-Marie-Tooth disease. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 6. Recommended Surveillance for Individuals with Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

System/Concern

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.

38 clinical trials registered, 26 recruiting. Interventions under study include other interventions, medical devices, drug therapy, and gene therapy. Pipeline includes 2 PHASE3, 1 PHASE2, 5 PHASE1. Research is sponsored by a mix of industry and academic institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT05982119](https://clinicaltrials.gov/study/NCT05982119)

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:166

GARD

Genetic and Rare Diseases Info Center

GARD:6034

Questions for Your Care Team

→Are any of the 38 active clinical trials a good fit for my situation?
→With 7 compounds in the orphan drug pipeline, which are furthest along in development and which clinical trials should I be aware of?
→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

Charcot-Marie-Tooth disease is an inherited condition that affects the peripheral nerves. These nerves carry signals between the brain and the rest of the body and control movement and sensation. This condition is caused by mutations in genes that make proteins important for the structure and function of peripheral nerves. Over time, people with this condition may experience muscle weakening and shrinking (atrophy), especially in the feet, legs, hands, and arms, along with a loss of sensation in these areas.

People with Charcot-Marie-Tooth disease may experience muscle weakness and atrophy in their limbs. They might notice loss of sensation, particularly in the feet and hands, which can affect balance and coordination.

Charcot-Marie-Tooth disease is caused by genetic mutations that affect the proteins necessary for the proper function and structure of peripheral nerves. This inherited mutation leads to the gradual degeneration of these nerves, causing the symptoms observed in the condition. Associated genes include MFN2, BAG3, SLC12A6, JAG1, EGR2.

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Feature	% of Persons w/Feature	Comment
Motor sensory neuropathy	100%	Cranial nerve involvement
Ptosis	33%-59%	Symmetric or asymmetric
Gaze palsy	13%-30%	—
Horizontal nystagmus	20%	—
Facial weakness	34%-100%	Symmetric or asymmetric; may be assoc w/hemifacial atrophy Cognitive function
Normal	8%	Based on Taft clinical classification to stratify cognitive function in 53 persons1 Mild ID
Psychotic episodes	39% (25/64)	After age 15 yrs1
Scoliosis	86%	Average onset age 10.4 yrs
Pulmonary restrictive syndrome	Unknown	Related to scoliosis axonal loss affecting respiratory muscles2
Contractures	59%	MCP joint (flexion) contracture 50%
Seizures	17%	Generalized, absence, or focal seizures3
Tremor	25%	ID = intellectual disability; MCP = metacarpophalangeal Based on and 1. 2. 3.

GeneReviews

Management Guidelines

Consensus clinical management recommendations for hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC) have not been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum

System/Concern	Evaluation	Comment
neuropathy	Neurologic exam	Obtain EEG.; Consider MRI if not previously performed. Seizures
Musculoskeletal	Orthopedics / physical medicine rehab / PT OT eval	To incl assessment of:; Gross motor fine motor skills; Possible contractures (esp Achilles tendon); Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills); Mobility, self-help skills, ADL, need for adaptive devices
Scoliosis	Orthopedics pulmonary medicine	Baseline eval for scoliosis; Baseline pulmonary function assessment given risk for restrictive lung disease Extraocular muscle
involvement	Ophthalmologic exam	Assess for ptosis, esotropia or exotropia, gaze palsy, nystagmus. Developmental delay / Intellectual
disability	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention / special education / community social activities Psychotic
episodes	Obtain history of possible events.	When concerns, refer for psychiatric eval. Genetic
counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of HMSN/ACC to facilitate medical personal decision making Family support resources
Manifestation/Concern	Treatment	Considerations/Other
Seizures	Standardized treatment w/ASM by experienced neurologist	Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.; Valproate may also be beneficial for behavioral problems.; Education of parents/caregivers1 Extraocular muscle
involvement	Standard treatment(s) per ophthalmologist	—
Musculoskeletal	Orthopedics / physical medicine rehab / PT OT	Regular physiotherapy to maximize mobility risk for later orthopedic complications (e.g., hand foot contractures, scoliosis); Walking aids incl canes or walkers when appropriate; Durable medical equipment positioning devices as needed (e.g.
Scoliosis	Orthopedics	Depending on degree of severity, scoliosis usually requires surgical correction. Pulmonary medicine
Intellectual disability	See .	—
Psychotic episodes	Psychiatric eval	Low-dose neuroleptics may be useful. Family support/ resources

Source: GeneReviews — "Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum"

Research Type	Count	% of Total
Laboratory research	130	28%
Patient case studies	92	20%
Research summaries	81	17%
Disease patterns and progression	63	14%
New treatment approaches	38	8%
Testing and diagnosis research	31	7%
Clinical study results	23	5%
Other research	8	2%

Kisho

Charcot-Marie-Tooth disease

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Orphan Drug Designations

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Differential Diagnosis

PLA2G6

Management Guidelines

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Charcot Marie Tooth Disease Clinical Trial Pipeline Gains Momentum: 13+ Companies Lead the Charge in Pioneering New Treatments | DelveInsight

Two Cases of Multiple Sclerosis in a Family With X-Linked Charcot-Marie-Tooth Disease.

Patient-Reported Complications and Outcomes of General, Central Neuraxial, and Peripheral Regional Anesthesia in Charcot-Marie-Tooth Disease.

Clinical Development of Therapies for Charcot-Marie-Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory Pathways.

Charcot-Marie-Tooth disease

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Orphan Drug Designations

Prognosis

Surveillance Guidelines

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?

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

What causes Charcot-Marie-Tooth disease?

How rare is Charcot-Marie-Tooth disease?

How is Charcot-Marie-Tooth disease diagnosed?

Are there treatments for Charcot-Marie-Tooth disease?

What complications can arise from Charcot-Marie-Tooth disease?

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

What is the life expectancy for someone with Charcot-Marie-Tooth disease?

Should I see a specialist for Charcot-Marie-Tooth disease?

Differential Diagnosis

PLA2G6

Management Guidelines

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Charcot Marie Tooth Disease Clinical Trial Pipeline Gains Momentum: 13+ Companies Lead the Charge in Pioneering New Treatments | DelveInsight

Two Cases of Multiple Sclerosis in a Family With X-Linked Charcot-Marie-Tooth Disease.

Patient-Reported Complications and Outcomes of General, Central Neuraxial, and Peripheral Regional Anesthesia in Charcot-Marie-Tooth Disease.

Clinical Development of Therapies for Charcot-Marie-Tooth Disease: Recommendations for Trial Design, Endpoints, and Regulatory Pathways.