Charcot-Marie-Tooth disease type 1A
Please note that the links contained on this search results page may take you
to sites outside of the NIH. (See Disclaimer under Site Policies for details.)
Charcot-Marie-Tooth disease, Type 1A (CMT1A) is a type of inherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused by having an extra copy (duplication) of the PMP22 gene. This gene provides the instructions for producing a protein called peripheral myelin protein-22, which is an important component of the myelin sheath. The duplication of this gene results in an overabundance of peripheral myelin protein-22, causing the structure and function of the myelin sheath to be abnormal. CMT1A is inherited in an autosomal dominant manner. Treatment for this condition involves physical therapy, occupational therapy, braces and other orthopedic devices, orthopedic surgery, and pain-killing drugs.[1]
For more information about Charcot-Marie-Tooth disease type 1A click on the boxes below:
Click arrows to expand or collapse a Resource Section.
Show All Resources
Hide All Resources
- More Detailed Information (Found: 9 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
-
eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
-
Genetics Home Reference (GHR) contains a condition summary on Charcot-Marie-Tooth disease type 1A. Click on the link to go to GHR and review this summary.
-
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.
-
MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
-
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
-
The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
-
The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Charcot-Marie-Tooth disease type 1A. 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 1A. 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.
- Support Groups (Found: 9 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
- Disease-Specific Organizations
- Live Chat
-
The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
-
RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Clinical Trials & Research (Found: 2 Resources)
Resources where you may find research studies and clinical trials
-
ClinicalTrials.gov lists trials that are studying or have studied Charcot-Marie-Tooth disease type 1A. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
-
CRISP is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other research institutions. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies click on the link and enter the disease name in the enter search terms box and click the and button below the box. Then click Submit Query.
- Services (Found: 6 Resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- 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 and research 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. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. In many cases research test results are not shared with the patient or physician. Click on GeneTests, than click “Testing” beside the subtype of interest to view a list of clinical laboratories offering testing. To view a list of laboratories offering research testing, select “Research” beside the subtype of interest. Talk to your health care provider or a genetic professional to learn more about your clinical genetic and research genetic testing options for this condition.
-
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.
- Genetic Services
-
We recommend that you discuss this information and your concerns with a genetics professional. The following online resources can help you find a genetics professional in your community:
* GeneClinics - A searchable directory of US and international genetics and prenatal diagnosis clinics. To locate genetics clinics in the United States, go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
* ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
- NLM Gateway
A tool to search across multiple resources offered on the National Library of Medicine's Website
-
The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.