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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • CMT 2C
  • Charcot-Marie-Tooth disease, axonal, Type 2C
  • Hereditary motor and sensory neuropathy 2 C
  • HMSN 2 C
  • Charcot Marie Tooth disease type 2C
Home > Rare Diseases and Related Terms > Charcot-Marie-Tooth disease type 2C



Charcot-Marie-Tooth disease type 2C
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Charcot-Marie-Tooth disease (CMT) is a group of progressive disorders that affect the peripheral nerves and result in problems with movement and sensation. [1] In CMT type 2 (CMT2), the motor system is more prominently involved than the sensory system, although both are involved. Individuals with this condition typically have slowly progressive weakness and atrophy of distal muscles in the feet and/or hands usually associated with depressed tendon reflexes and mild or no sensory loss. There is significant clinical overlap with CMT1. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings.[2]  

Charcot-Marie-Tooth disease type 2C (CMT2C) is a very rare form of CMT. Individuals with this condition may have diaphragm or vocal cord paresis in addition to the other problems associated with CMT.[2][3] Mild sensory loss has also been noted in some individuals.[2] CMT type 2C is caused by mutations in the TRPV4 gene on chromosome 12q24.[2][3]




References
  1. Charcot-Marie-Tooth disease. Genetics Home Reference (GHR). January 2010 Available at: http://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease. Accessed June 3, 2011.
  2. Bird, TD. Charcot-Marie-Tooth Neuropathy Type 2. GeneReviews. March 2011 Available at: http://www.ncbi.nlm.nih.gov/books/NBK1285/. Accessed June 3, 2011.
  3. Types and Causes of CMT . Charcot-Marie-Tooth Association Resource Center. October 2010 Available at: http://www.cmtausa.org/index.php?option=com_content&view=article&id=75&catid=10&Itemid=51. Accessed June 3, 2011.
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Questions & Answers (Found 1 Question)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
For more information about Charcot-Marie-Tooth disease type 2C click on the boxes below:
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 General | Management Guidelines
More Detailed Information (Found 5 resources)
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  • General

    • Genetics Home Reference (GHR) contains information on Charcot-Marie-Tooth disease type 2C. Click on the link to go to GHR and review the information.
    • The Muscular Dystrophy Association has deveopled an information page titled "Surgery Sometimes, Bracing Often, Caution Always: Caring for the CMT-affected foot." Click on Muscular Dystrophy Association to view this information page.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Charcot-Marie-Tooth disease type 2C. Click on the link to go to OMIM and review these resources.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Charcot-Marie-Tooth disease type 2C. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
 Organizations Providing General Support | Social Networking Websites
Organizations (Found 11 resources)
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 Specialty Clinics/Treatment Centers | Testing | Genetic Services | Parent Resources
Services (Found 8 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer

    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Specialty Clinics/Treatment Centers

    • The Muscular Dystrophy Campain provides information regarding the Joseph Patrick Trust which provides financial support for specialist equipment. Click on the link to read more about this trust.
    • Services to enhance mobility and independent living are available in each community through the Muscular Dystrophy Association's local network of chapters and field offices. Click here to read more about this service.
    • The Muscular Dystrophy Association can help you find a doctor who knows about Charcot-Marie-Tooth disease. Click on the link to search for specialty clinics nearest you.
  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
    • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Genetic Services

    • You may wish to discuss your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:  

  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 
Scientific Conferences (Found 4 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer

  • Past Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
    • Translational Neuromuscular Research, Diverse Diseases, Convergent Themes, September 19, 2011 - September 21, 2011
      Location: Beaver Hollow Conference Center, Java Center, NY
      Description: The infrastructure for this conference was developed by the MSG, whose investigators have worked for the past 10 years to secure extramural funding and to develop outcome measures for clinical research/experimental muscle and other neuromuscular diseases. The goal of this conference is to help identify commonalities across therapy development in neuromuscular disease to help ensure that lessons learned in any one disease are disseminated across the neuromuscular community.
    • The Ottawa Conference on New Directions in Biology and Disease of Skeletal Muscle, May 5, 2010 - May 6, 2010
      Description: The conference highlighted current developments in muscle biology, disease, and therapy with presentations by leading international researchers.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
 
Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials. Disclaimer

    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • The Inherited Neuropathies Consortium is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with Charcot Marie Tooth disease through research. The Inherited Neuropathies Consortium has a registry for patients who wish to be contacted about clinical research opportunities.

      For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/direct.htm
    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

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