Charcot-marie-tooth disease

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Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes.

What do we know about Charcot-Marie-Tooth disease?

CMT is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. The first sign of CMT is generally a high arched foot or gait disturbances.

Other symptoms of the disorder may include foot-bone abnormalities such as high arches and hammer toes, problems with hand function and balance, occasional lower leg and forearm muscle cramping, loss of some normal reflexes, occasional partial sight and/or hearing loss, and, in some individuals, scoliosis (curvature of the spine).

People with CMT disease usually begin to experience symptoms in adolescence or early adulthood. There is no cure for the disease, but there are treatment options, including physical therapy and bracing. Life expectancy is usually normal.

CMT disease can be divided into two classes, depending on where the dysfunction occurs in the peripheral nerves:

  • In CMT type 1, the peripheral nerves' axons - the part of the nerve cell that transmits electrical signals to the muscles - lose their protective outer coverings, their myelin sheaths. This disrupts the axons' function.
  • In CMT type 2, the axons' responses are diminished due to a defect within the axons themselves. CMT type 2, the less common of the two classes, can be further separated into at least six subtypes, caused by defects in different genes.

Is there a gene implicated in Charcot-Marie-Tooth?

The newly discovered GARS gene (see Gene Discovery Opens Door to Further Research In Inherited Neurological Disorders [News Release]) is implicated in CMT type 2D, a form of CMT that primarily affects the hands and the forearms. CMT type 2D is inherited in an autosomal dominant fashion.

Even though the GARS gene is implicated in only two specific types of CMT, this discovery will guide researchers in studying other forms of these diseases, as well as other neurological disorders.

Because carpal tunnel syndrome affects the hands and the forearms, scientists may now investigate whether the GARS gene plays some role in this disorder. And two defective forms of the gene implicated in Lou Gehrig's disease are known to interact with a GARS family member.

Ultimately, the GARS gene and its family may provide a rich new resource for scientists investigating inherited and non-inherited neurological diseases. Genetic terms glossaries.

Glossary of Genetics | Glossary of genetic testing terms | Dictionary of genetics | Rare diseases

Common genetic disorders This list of genetic, orphan and rare diseases is provided for informational purposes only and is not comprehensive.

Common genetic disorders list A-Z Common genetic disorders list A-Z
* achondroplasia * alpha-1 antitrypsin deficiency
* antiphospholipid syndrome * attention deficit hyperactivity disorder
* autism * autosomal dominant polycystic kidney disease
* breast cancer * charcot-marie-tooth disease
* colon cancer * cri du chat syndrome
* crohn's disease * cystic fibrosis
* dercum disease * down syndrome
* duane syndrome * duchenne muscular dystrophy
* factor v leiden thrombophilia * familial hypercholesterolemia
* familial mediterranean fever * fragile x syndrome
* gaucher disease * hemochromatosis
* hemophilia * holoprosencephaly
* ​huntington's disease * inborn errors of metabolism
* klinefelter syndrome * marfan syndrome
* ​methylmalonic acidemia * myotonic dystrophy
* neurofibromatosis * noonan syndrome
* osteogenesis imperfecta * parkinson's disease
* phenylketonuria * poland anomaly
* porphyria * progeria
* prostate cancer * retinitis pigmentosa
* severe combined immunodeficiency * sickle cell disease
* skin cancer * spinal muscular atrophy
* tay-sachs disease * thalassemia
* trimethylaminuria * turner syndrome
* velocardiofacial syndrome * wilson disease

A-Z of Genetic Diseases (External)

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