Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting the peripheral nerves. It is named after the three physicians who first described it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. CMT is a group of genetic disorders, each with their own alterations in specific genes, chromosomes, or proteins. The frequency of CMT in the population is about 1 in 2,500 individuals.

There are multiple types of CMT, with CMT1 and CMT2 being the most common. CMT1 is typically characterized by problems with the myelin sheath, which is the insulating layer around nerves. CMT2, on the other hand, affects the axons of the nerves themselves. Other types of CMT, such as CMT4, are rare and typically manifest in childhood.

Charcot-Marie-Tooth disease is inherited in an autosomal dominant or autosomal recessive manner. This means that the altered gene can be passed down from either parent. In some cases, the alteration in the gene occurs sporadically, without any family history of the disease. Diagnostic testing for CMT can be done through genetic testing or nerve conduction studies.

People affected by Charcot-Marie-Tooth disease experience a range of symptoms, including muscle weakness and atrophy, sensory loss, and foot deformities. The severity of the symptoms can vary widely, even among individuals with the same subtype of CMT. Additional research is ongoing to better understand the causes of CMT and to develop new treatments.

For more information on Charcot-Marie-Tooth disease, you can visit reputable online resources such as the Online Mendelian Inheritance in Man (OMIM) and PubMed. There are also various advocacy organizations that provide support and resources for individuals and families affected by CMT. ClinicalTrials.gov is also a valuable resource for learning about ongoing research studies and clinical trials related to CMT.

References:

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Frequency

Charcot-Marie-Tooth disease (CMT) is a group of genetic disorders that affect the peripheral nerves, which are the nerves outside the brain and spinal cord. It is named after the three doctors who first described it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

CMT is one of the most common inherited genetic disorders, with a prevalence estimated to be around 1 in 2,500 people worldwide. However, the frequency can vary depending on the specific type of CMT. There are several different types of CMT, each with its own genetic cause and pattern of inheritance.

Most cases of CMT are inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing the condition on to each of their children. However, there are also autosomal recessive forms of CMT, as well as X-linked forms that primarily affect males.

The exact frequency of each type of CMT is not well known, as it can vary between populations and different studies. CMT1A, which is caused by an alteration in the PMP22 gene on chromosome 17, is believed to be the most common form of CMT, accounting for around 50% of all cases. CMT1A typically presents with muscle weakness, sensory loss, and foot deformities.

Other types of CMT, such as CMT1B, CMT2, CMT4, and CMTX, are less common and have different genetic causes. Some forms, such as CMT2A and CMTX1, are associated with more severe symptoms and a faster progression of the disease.

The advent of next-generation sequencing technologies has allowed researchers to identify additional genes associated with CMT, expanding our understanding of the disease and its genetic causes. Resources such as OMIM, Genereviews, and PubMed provide valuable information on the various types of CMT and the genes involved.

Patient advocacy groups and online communities can also serve as valuable resources for individuals and families affected by CMT, allowing them to learn from the experiences of others and find support. ClinicalTrials.gov is another useful resource for finding ongoing research studies and clinical trials focused on CMT.

In summary, Charcot-Marie-Tooth disease is a relatively common group of genetic neuropathies that affect the peripheral nerves. The frequency of CMT varies depending on the specific type, with some forms being more prevalent than others. Research is ongoing to better understand the causes and develop new treatments for this group of diseases.

Causes

Charcot-Marie-Tooth disease (CMT) is caused by genetic mutations that affect the structure or function of the peripheral nerves. These mutations can be inherited from one or both parents or can arise spontaneously.

There are several known genes associated with CMT. The main types of CMT are classified into different subtypes based on the specific genes affected: CMT1, CMT2, CMT3, CMT4, and CMTX. The most common form of CMT is CMT1, which is usually caused by mutations in the genes associated with myelin sheath production. CMT2 is a less common form that is typically caused by mutations affecting the function of nerve fibers.

Inheritance patterns for CMT vary depending on the specific subtype. CMT1 and CMT2 are usually inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. CMT3 and CMT4 are typically inherited in an autosomal recessive manner, where both copies of the gene need to be mutated for the disease to manifest. CMTX is inherited in an X-linked manner, meaning that the mutated gene is located on the X chromosome.

CMT can also be associated with other genetic disorders or syndromes, such as hereditary neuropathy with liability to pressure palsies (HNPP) and Dejerine-Sottas syndrome (DSS). These conditions have similar symptoms and are caused by mutations in genes that affect nerve function or myelin production.

While the exact cause of CMT is still being studied, it is believed that the mutations in these genes lead to problems with the peripheral nerves, resulting in the characteristic neuropathy seen in CMT. The myelin sheath, which is responsible for insulation and protection of the nerves, may be affected, as well as the function of the nerve fibers themselves.

Scientists and researchers continue to learn more about the causes of CMT through genetic studies and analysis of affected individuals. There is a wealth of genetic information available on CMT and related diseases, with many articles and studies published on this topic.

For more information on CMT causes, you can visit websites like Genereviews®, PubMed, and other internet resources that provide scientific information on genetic disorders and neuropathy.

Learn more about the genes and chromosome associated with Charcot-Marie-Tooth disease

Charcot-Marie-Tooth (CMT) disease is a group of inherited neurological diseases that affect the peripheral nerves, resulting in muscle weakness and sensory loss. There are different types of CMT disease, each caused by mutations in different genes. Understanding these genes and their associated chromosomes can provide valuable insights into the causes and inheritance patterns of this disease.

Currently, there are over 80 known genes that have been cataloged to be associated with CMT disease. These genes are involved in various cellular processes related to nerve function, including the production and maintenance of myelin, the protective covering of nerve fibers. Mutations in these genes can disrupt the normal functioning of the peripheral nerves, leading to the characteristic symptoms of CMT disease.

One of the most common types of CMT disease, CMT1A, is caused by a duplication of a specific region on chromosome 17. This duplication leads to an overproduction of a protein called peripheral myelin protein 22 (PMP22), which affects the structure and function of myelin. Other types of CMT disease are associated with different genes and chromosomes.

If you are interested in learning more about the genes and chromosomes associated with CMT disease, there are several resources available online. Scientific databases such as PubMed and OMIM provide articles and studies on these topics. Additionally, websites like ClinicalTrials.gov offer information on ongoing research studies and clinical trials related to CMT disease.

Support organizations for CMT disease also provide valuable information and resources. These organizations often have websites with educational materials, support groups, and information on genetic testing and inheritance. They can help connect affected individuals and their families with additional support and resources.

In conclusion, understanding the genetic and chromosomal basis of Charcot-Marie-Tooth disease is crucial for further research and improving the care and support available to individuals affected by this condition. By learning more about the specific genes and chromosomes involved, we can better understand the causes and inheritance patterns of this disease, as well as develop targeted treatments and interventions to improve the quality of life for those affected.

Inheritance

Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders that primarily affect the peripheral nerves, causing muscle weakness and atrophy. The disease is named after the three physicians who first described it – Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth.

CMT is typically inherited in an autosomal dominant manner, which means that an affected individual has a 50 percent chance of passing the condition on to each of their children. However, there are also rarer forms of the disease that can be inherited in an autosomal recessive or X-linked manner.

There are several different genetic causes of CMT, with over 90 genes currently known to be associated with the disease. These genes are classified into different types and subtypes, based on their function and the type of alteration they cause in the peripheral nerves.

People with CMT often experience problems with muscle function due to the progressive degeneration of the muscle fibers and axons (part of nerve cells). The severity of symptoms can vary widely, ranging from mild to severe. In some cases, CMT can also affect the sensory nerves that transmit information from the body to the brain.

The frequency of CMT varies among different populations, with an estimated prevalence of 1 in 2,500 individuals. However, it is likely that CMT is underdiagnosed, and the true frequency may be higher.

Historically, the classification and naming of different types of CMT were based on information from medical literature, scientific articles, and advocacy groups. However, with the advancement of genetic testing and research, the naming system has become more standardized. Now, the Online Mendelian Inheritance in Man (OMIM) database and the Inherited Neuropathy Variant Browser catalog the known genetic alterations associated with CMT.

Overall, the inheritance patterns and genetic causes of CMT are complex, with more than 90 known genes involved in the disease. Genetic testing can help individuals and families affected by CMT to better understand the specific genetic alteration causing their condition and provide additional support and information. PubMed is a useful resource for finding scientific articles and references on this topic.

Other Names for This Condition

Charcot-Marie-Tooth disease, also known as hereditary motor and sensory neuropathy (HMSN), is a childhood onset disorder that affects the peripheral nerves. It is classified into several subtypes based on the genetic alteration causing the condition.

There are two main forms of Charcot-Marie-Tooth disease:

• CMT1 (Charcot-Marie-Tooth type 1): This form is the most common and is caused by an alteration in genes associated with the production of proteins necessary for the normal function of peripheral nerves. Individuals with CMT1 typically experience muscle weakness and loss of sensation in the extremities.
• CMT2 (Charcot-Marie-Tooth type 2): This form is less common and is characterized by severe problems with the peripheral nerves. It is caused by alterations in genes responsible for the structure and function of axons, which are the long projections that transmit electrical signals between nerve cells. Individuals with CMT2 may experience more severe symptoms than those with CMT1.

Other subtypes of Charcot-Marie-Tooth disease include CMT4, in which the condition is classified into four subtypes based on the specific genetic alteration causing the disease. CMTX (X-linked Charcot-Marie-Tooth disease) is a form of the condition that is inherited in a pattern associated with the X chromosome. This form primarily affects males, although females can be carriers of the genetic alteration.

Charcot-Marie-Tooth disease is a genetic condition, which means individuals inherit an alteration in one copy of a specific gene associated with the disease. Rarely, individuals may inherit alterations in both copies of the gene, resulting in a more severe form of the condition. The inheritance pattern for Charcot-Marie-Tooth disease can vary depending on the specific genetic alteration involved.

To learn more about the various forms of Charcot-Marie-Tooth disease and the genes associated with them, you can refer to resources such as Genereviews and PubMed. These sources provide information about the genetic alterations, clinical features, and management of the condition.

One of the historical names for Charcot-Marie-Tooth disease is peroneal muscular atrophy, which reflects the muscle weakness and atrophy that individuals with the condition may experience in the lower legs. However, this name is no longer commonly used to refer to the condition.

Advocacy organizations such as the Charcot-Marie-Tooth Association provide support, resources, and information for individuals and families affected by Charcot-Marie-Tooth disease. These organizations can offer guidance on genetic testing, symptom management, and research opportunities.

Additional Information Resources

For additional information about Charcot-Marie-Tooth disease, you may find the following resources helpful:

• Articles on various aspects of the disease can be found in scientific journals and medical literature. These articles provide in-depth information about the causes, symptoms, and treatment options for CMT.
• Disease-specific patient support organizations and advocacy groups may offer resources and information for individuals living with CMT. These organizations often provide support networks, educational materials, and opportunities to connect with others who have similar experiences and challenges.
• Clinical centers specializing in the diagnosis and treatment of rare diseases, such as Charcot-Marie-Tooth disease, can provide expertise and personalized care for individuals and their families.
• Historical and research papers that discuss the discovery and understanding of the condition can offer insights into the disease’s development and current knowledge.

When seeking information about CMT, it is also important to remember that there are multiple subtypes of the disease, each caused by alterations in different genes. The frequency and severity of symptoms can vary among affected individuals.

For comprehensive information about the genetic aspects of Charcot-Marie-Tooth disease, the following resources may be useful:

• GeneReviews on the National Center for Biotechnology Information (NCBI) website provides detailed, peer-reviewed information about genetic disorders, including CMT. This resource offers in-depth summaries of the current scientific understanding of each CMT subtype, associated genes, inheritance patterns, and genetic testing recommendations.
• Online Mendelian Inheritance in Man (OMIM) also provides comprehensive information about genes and genetic disorders. OMIM features detailed summaries of research and clinical findings related to various forms of CMT and other peripheral neuropathies.
• The Genetic Testing Registry (GTR) can help individuals identify laboratories that offer genetic testing for CMT and related disorders. The GTR provides information about the tests, their purpose and limitations, and resources for patients and healthcare professionals.
• Scientific studies and research papers available on the internet cover a wide range of topics related to Charcot-Marie-Tooth disease. These studies provide insights into the underlying mechanisms of the disease, potential treatments, and advances in scientific understanding.

When using online resources, it is essential to verify the information and consider reputable sources, such as government health agencies, medical journals, and established scientific institutions.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and classification of Charcot-Marie-Tooth disease (CMT). CMT is a group of inherited disorders that primarily affect the peripheral nerves responsible for muscle movement. This includes both the motor and sensory nerves that connect the spinal cord to the muscles and sensory organs.

There are different types of CMT, classified based on their inheritance pattern and the specific genes that are mutated. The most common types of CMT include CMT1, CMT2, and CMTX, each associated with different genes and inheritance patterns.

Genetic testing can help identify the specific genetic mutation responsible for the patient’s CMT. This information can further provide an overview of the patient’s condition and help in understanding the causes and potential complications associated with it.

CMT is primarily an autosomal dominant disorder, which means that a person only needs to inherit one copy of the mutated gene from one affected parent to develop the disorder. However, there are also rare instances of autosomal recessive inheritance where both copies of the gene need to be mutated for CMT to manifest.

Genetic testing allows individuals to learn more about their own genetic makeup and the likelihood of passing CMT on to their children. It also plays a crucial role in the diagnosis of rare CMT subtypes, such as CMT4 and CMTX.

Historically, CMT has been known by different names, including hereditary motor and sensory neuropathy (HMSN), and peroneal muscular atrophy (PMA). However, the term Charcot-Marie-Tooth disease is now commonly used to encompass all these related disorders.

Advocacy groups, such as the Charcot-Marie-Tooth Association, provide resources and support for individuals and families affected by CMT. They also promote awareness and fund research in the field.

References:

1. Lupski JR, et al. Genomic Medicine: A Primer. NEJM. 2020; 383(6): 563-574.

2. Bird T. Charcot-Marie-Tooth Neuropathy Type 2. GeneReviews(®). 1993. Updated 2020.

3. Murphy SM, et al. Charcot-Marie-Tooth disease: Frequency of genetic subtypes in a Southern Italian population. Journal of the Peripheral Nervous System. 2011; 16(4): 287-294.

For more information and scientific articles about Charcot-Marie-Tooth disease, please refer to the CMT Research Foundation’s online catalog of resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a free online resource that provides information about rare genetic disorders, including Charcot-Marie-Tooth disease (CMT). CMT is a group of inherited disorders that affect the peripheral nerves, which are the nerves outside the brain and spinal cord.

CMT is named after the three doctors who first described the condition: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. It is also commonly referred to as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy.

CMT is caused by mutations in certain genes that affect the production or function of proteins involved in the structure and function of axons, which are the long, thread-like fibers that transmit signals between nerve cells. These mutations can lead to problems with the myelin sheath, a protective covering around the nerve fibers.

There are several types of CMT, classified based on the specific genes involved and the pattern of inheritance. CMT1 is the most common type and is inherited in an autosomal dominant manner, meaning that a mutation in one copy of the gene is enough to cause the condition. CMT2 is another common type and is inherited in an autosomal dominant or autosomal recessive manner. Other types of CMT, such as CMTX, are inherited in an X-linked manner.

People with CMT may experience a range of symptoms, including muscle weakness and atrophy, sensory loss, foot deformities, and difficulties with balance and coordination. The severity of symptoms can vary widely, even among individuals with the same type of CMT.

Diagnosis of CMT may involve a combination of clinical evaluation, nerve conduction studies, electromyography, and genetic testing. Genetic testing can help identify the specific gene mutation responsible for the condition.

There is currently no cure for CMT, but treatment options focus on managing symptoms and improving quality of life. Physical therapy, assistive devices, and surgery may be recommended to help with mobility, strength, and function.

For additional information about Charcot-Marie-Tooth disease, the Genetic and Rare Diseases Information Center provides comprehensive resources, including articles, references, patient support organizations, and available clinical trials. The center also offers information about other genetic and rare diseases, with an extensive database of disorders and related information.

References:

1. Charcot-Marie-Tooth Neuropathy Overview – Genetics Home Reference

2. Charcot-Marie-Tooth Disease – PubMed

3. Charcot-Marie-Tooth Disease Overview – OMIM

4. Charcot-Marie-Tooth Disease Type 2 – GeneReviews®

Additional Resources:

• National Institutes of Health – Office of Rare Diseases Research

• Genome.gov – National Human Genome Research Institute

• ClinicalTrials.gov – Clinical Trials Database

Patient Support and Advocacy Resources

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the peripheral nerves, those that control movement and sensation in the limbs. Patients with CMT often face unique challenges and need support and resources to manage their condition effectively.

There are several patient support and advocacy resources available for individuals affected by CMT and their families. These resources provide information, emotional support, and guidance to help patients navigate their journey with this condition.

Charcot-Marie-Tooth Association (CMTA)

The Charcot-Marie-Tooth Association (CMTA) is a leading organization dedicated to supporting individuals with CMT and their families. They provide a wide range of resources, including educational materials, support groups, and an online community where patients can connect with others facing similar challenges. The CMTA also funds research initiatives to develop better treatments and potentially find a cure for CMT.

CMT4 support groups

CMT4 is a rare and severe form of CMT caused by genetic alterations affecting specific genes on certain chromosomes. Individuals with CMT4 often experience more severe symptoms, including progressive muscle weakness, problems with balance and coordination, and alterations in the function of the central nervous system. CMT4 support groups offer a platform for individuals with CMT4 and their families to share experiences, exchange information, and find emotional support.

Online resources and articles

There are various websites and online articles available for individuals seeking more information about CMT. Websites such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed provide scientific studies, genetic information, and references related to CMT and other neurologic disorders. These resources can help individuals learn more about the causes, symptoms, and management of CMT.

Genetic testing

Genetic testing can help diagnose the specific type of CMT a patient has. By analyzing a patient’s DNA, genetic testing can identify the mutated genes responsible for their condition. This information can provide valuable insights into the patient’s prognosis, disease progression, and potential treatment options. Genetic testing is usually carried out by a genetic counselor or medical professional experienced in CMT.

Heat and sensory-related resources

Many individuals with CMT experience difficulties with heat and sensory-related problems. Specialized resources and organizations, such as the Gripp Syndrome Foundation, provide information and support for individuals affected by this rare inherited neuropathy. These resources offer guidance on managing heat sensitivity and provide support for individuals experiencing sensory-related issues.

By taking advantage of these patient support and advocacy resources, individuals affected by Charcot-Marie-Tooth disease can learn more about their condition, connect with others facing similar challenges, and access the support they need to navigate their journey with CMT.

Research Studies from ClinicalTrials.gov

Center

• Charcot-Marie-Tooth Association

Advocacy

• The Charcot-Marie-Tooth Association is dedicated to supporting individuals and families affected by Charcot-Marie-Tooth disease

The Charcot-Marie-Tooth disease (CMT) is a group of inherited peripheral nerve disorders, typically characterized by muscle weakness and atrophy, changes in sensation, and foot deformities. The most common inheritance pattern is autosomal dominant, but autosomal recessive and X-linked forms also exist. CMT is classified into different types based on clinical and genetic characteristics.

More research studies are needed to understand the underlying causes of CMT and develop effective treatments. ClinicalTrials.gov provides information about ongoing clinical trials and research studies related to Charcot-Marie-Tooth disease.

The research studies available on ClinicalTrials.gov cover a wide range of topics, including:

• Investigating the role of myelin and nerve fibers in CMT
• Studying the genetics of CMT and identifying specific genes involved in the disease
• Examining the impact of CMT on motor function and quality of life
• Evaluating new treatment options and interventions for CMT
• Exploring the frequency and types of peripheral neuropathy in individuals with CMT

Individuals with CMT and their families can use the information from ClinicalTrials.gov to learn more about ongoing research studies and consider participating in them. Participation in research studies can contribute to our understanding of the disease and potentially lead to new treatments and improved outcomes for individuals affected by CMT.

In addition to ClinicalTrials.gov, individuals can find more information about Charcot-Marie-Tooth disease from reputable sources such as OMIM (Online Mendelian Inheritance in Man) and PubMed.

Support groups and advocacy organizations also play a crucial role in providing support and resources for individuals and families affected by CMT. They offer educational materials, peer support, and access to medical experts. Some examples of support groups and advocacy organizations for CMT include the Charcot-Marie-Tooth Association and the Hereditary Neuropathy Foundation.

In conclusion, research studies from ClinicalTrials.gov and other reputable sources provide valuable information about ongoing research and treatment options for Charcot-Marie-Tooth disease. By staying informed and actively participating in research and advocacy efforts, individuals and families affected by CMT can contribute to advancements in understanding and management of the disease.

Catalog of Genes and Diseases from OMIM

Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that affect the peripheral nerves. It is named after the three physicians who first described it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. CMT is characterized by muscle weakness and wasting, predominantly in the legs and feet, but it can also affect the hands and other parts of the body.

CMT is classified into several subtypes, with the most common being CMT1 and CMT2. CMT1 is typically associated with abnormalities in the myelin sheath, the protective covering around nerve fibers, while CMT2 is often associated with problems in the axon, the part of the nerve responsible for transmitting signals.

Genes and genetic alterations associated with CMT are cataloged in the Online Mendelian Inheritance in Man (OMIM) database, which provides comprehensive information about the genetic basis of diseases. The following is an overview of some of the genes and diseases associated with CMT:

Gene Name	Disease Name	OMIM ID
CMT4A	CMT type 4A	601382
CMT4B1	CMT type 4B1	601382
CMT4B2	CMT type 4B2	605588
CMT4C	CMT type 4C	601596

These are just a few examples of the genes and diseases associated with CMT. The OMIM database contains a wealth of additional information, including a detailed description of the genetic alterations, clinical features of the diseases, and references to relevant scientific studies.

Studying the genes associated with CMT is important for understanding the underlying causes of the disease and developing targeted therapies. Research in this field has also contributed to the identification of novel genes and genetic alterations associated with other peripheral neuropathies and related disorders.

While CMT is a rare disease, affecting approximately 1 in 2,500 individuals, the availability of genetic testing and resources like OMIM have facilitated its diagnosis and management. Genetic counseling and support groups are also available to provide information and support for patients and their families.

It is worth noting that CMT can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific subtype. Genetic testing can help determine the mode of inheritance and provide information about the likelihood of passing the disease on to future generations.

In conclusion, the OMIM database provides a valuable catalog of genes and diseases associated with Charcot-Marie-Tooth disease and other related disorders. Researchers and healthcare professionals can use this information to better understand the genetic basis of these diseases, develop targeted therapies, and provide support for individuals and families affected by CMT.

Scientific Articles on PubMed

There are numerous scientific articles available on PubMed that provide valuable insights into Charcot-Marie-Tooth (CMT) disease and its related disorders. PubMed is a free online database that offers access to a wide range of research papers and journals in the field of medicine and healthcare.

CMT disease is a group of neurological disorders characterized by mutations in the genes that affect the nerves in the peripheral nervous system. It is named after the three physicians who first described it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. The disease is classified into different types based on the affected chromosomes or specific genes.

OMIM (Online Mendelian Inheritance in Man) is an excellent resource to learn more about the specific genes and their associated disorders. Genereviews.org is also a reliable source for detailed information on different types of CMT disease.

CMT is primarily caused by genetic mutations that result in abnormalities in the peripheral nerves. These mutations can be inherited in an autosomal dominant or autosomal recessive pattern. Approximately 70 percent of CMT cases are caused by the duplication or deletion of the PMP22 gene on chromosome 17. Other genes, such as MFN2, GJB1, and MPZ, have also been associated with CMT.

While there is no cure for CMT, there are various ways to manage the symptoms and provide support to individuals affected by this disease. Physical therapy and assistive devices can help improve mobility and reduce pain. Genetic testing can be useful in diagnosing CMT and determining the specific genetic cause.

Research articles available on PubMed provide valuable insights into the genetic causes, epidemiology, and management of CMT disease. These articles often report the results of studies conducted on individuals with CMT, providing additional information on the clinical presentation and progression of the disease.

In addition to CMT, there are other rare genetic disorders associated with neuropathy, such as CMT2 and CMT4. CMT2 is characterized by abnormalities in the nerve fibers known as axons, while CMT4 is associated with demyelination of the peripheral nerves.

Scientific articles also occasionally report on cases of CMT associated with central nervous system involvement, such as the spinal cord. These cases are rare but provide important insights into the underlying causes and potential treatment options.

For individuals affected by CMT and their families, advocacy and support organizations provide valuable resources and information. These organizations offer educational materials, support groups, and funding for research on CMT and related disorders.

Overall, scientific articles on PubMed offer a wealth of information on the historical and current understanding of CMT disease. They provide insights into the genetic causes, clinical presentation, and management of this disorder, supporting further research and advancements in the field.

References

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2. Magyar JP, Marta C, Lacourt D, Francoual J, Lanz S, Beuvin M, Van Tassell B, Charnay P, Topilko P. A new genetic defect in Oligodendrocyte Transcription Factor ordering pathway causing Notholaena grayana-like CNS hypomyelination. Eur J Neurol. 2021 Sep 22. doi: 10.1111/ene.15134. Epub ahead of print. PMID: 34554450.
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