Charcot-Marie-Tooth disease type 1
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Autosomal dominant demyelinating Charcot-Marie-Tooth disease; CMT1; Hereditary motor and sensory neuropathy type 1;
Charcot-Marie-Tooth disease type 1 (CMT1) is a type of
Treatment may involve physical or occupational therapy; the use of special shoes, braces or other orthopedic devices; surgery for severe pes cavus; canes or wheelchairs for mobility; and pain medication as needed.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|30%-79% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
Absent tendon reflexes
Symptoms begin in childhood
|Clusters of axonal regeneration||0007233|
|Cold-induced muscle cramps||0003449|
|Decreased motor nerve conduction velocity||0003431|
|Decreased number of peripheral myelinated nerve fibers||0003380|
Distal muscle wasting
|Distal muscle weakness||
Weakness of outermost muscles
|Distal sensory impairment||
Decreased sensation in extremities
|Foot dorsiflexor weakness||
[ more ]
[ more ]
|Hypertrophic nerve changes||0003382|
Decreased reflex response
[ more ]
Signs and symptoms begin before 15 years of age
|Limb muscle weakness||
|Onion bulb formation||0003383|
|Segmental peripheral demyelination/remyelination||0003481|
|Sensorineural hearing impairment||0000407|
Signs and symptoms worsen slowly with time
Claw hand deformities
[ more ]
|Upper limb muscle weakness||
Decreased arm strength
[ more ]
- nerve conduction studies electrodes are placed on the skin over nerves and produce small electric shocks. This stimulates the nerves and provides quantifiable information for the doctor.
- electromyography (EMG) involves inserting a needle electrode through the skin to measure the bioelectrical activity of muscles. Specific abnormalities in the readings can be useful in characterizing the distribution and severity of peripheral nerve involvement.
A clinical diagnosis may be considered in individuals with:
- progressive peripheral motor and sensory neuropathy
- slow nerve conduction velocity (NCV)
- palpably enlarged nerves, especially the ulnar nerve at the elbow and the greater auricular nerve running along the side of the neck
family historyconsistent with autosomal dominantinheritance
Genetic testing results can usually confirm a diagnosis. Different genetic testing strategies have been proposed in people with symptoms of CMT1, as several
The Genetic Testing Registry (GTR) provides information about the genetic tests for CMT1. 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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes other genetic neuropathies, especially X-linked CMT, autosomal dominant CMT2, CMT4, and hereditary neuropathy with liability to pressure palsies (see these terms). CMT1 identification may be challenging when there is no family history and acquired demyelinating neuropathies must also be taken into account.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- Genetics Home Reference (GHR) contains information on Charcot-Marie-Tooth disease type 1. This website is maintained by the National Library of Medicine.
- The National Human Genome Research Institute (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1F / 2E
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- Bird TD. Charcot-Marie-Tooth Neuropathy Type 1. GeneReviews. March 26, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1205/.
- Charcot-Marie-Tooth Disease Fact Sheet. National Institute of Neurological Disorders and Stroke Website. May, 2017; https://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm.
- Charcot-Marie-Tooth Disease Fact Sheet. NINDS. January 14, 2016; https://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm.
- Davide Pareyson, Chiara Pisciotta. Charcot-Marie-Tooth disease type 1. Orphanet. March, 2016; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65753.
- Divakara Kedlaya. Charcot-Marie-Tooth Disease. Medscape Reference. March 14, 2016; https://emedicine.medscape.com/article/1232386-overview.