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Charcot-Marie-Tooth Disease
What is Charcot-Marie-Tooth Disease?
Table of Contents (click to jump to sections)
What is Charcot-Marie-Tooth Disease?
Is there any treatment?
What is the prognosis?
What research is being done?
Organizations
Publicaciones en Español
Additional resources from MEDLINEplus
What is Charcot-Marie-Tooth Disease?
Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in
2,500 people in the United States. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular
atrophy, comprises a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves.
The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. A typical
feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent
tripping or falls. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends
upwards), are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on
an "inverted champagne bottle" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy
may occur in the hands, resulting in difficulty with fine motor skills. Some patients experience pain, which can range from
mild to severe.
Is there any treatment?
There is no cure for CMT, but physical therapy, occupational therapy, braces and other orthopedic devices, and orthopedic
surgery can help patients cope with the disabling symptoms of the disease. In addition, pain-killing drugs can be prescribed
for patients who have severe pain.
What is the prognosis?
Onset of symptoms of CMT is most often in adolescence or early adulthood, however presentation may be delayed until mid-adulthood.
Progression of symptoms is very gradual. The degeneration of motor nerves results in muscle weakness and atrophy in the extremities
(arms, legs, hands, or feet), and the degeneration of sensory nerves results in a reduced ability to feel heat, cold, and
pain. There are many forms of CMT disease. The severity of symptoms is quite variable in different patients and some people
may never realize they have the disorder. CMT is not fatal and people with most forms of CMT have a normal life expectancy.
What research is being done?
The National Institute of Neurological Disorders and Stroke (NINDS) conducts CMT research in its laboratories at the National
Institutes of Health (NIH) and also supports CMT research through grants to major medical institutions across the country.
Ongoing research includes efforts to identify more of the mutant genes and proteins that cause the various disease subtypes.
This research includes studies in the laboratory to discover the mechanisms of nerve degeneration and muscle atrophy, and
clinical studies to find therapies to slow down or even reverse nerve degeneration and muscle atrophy.
Select this link
to view a list of studies currently seeking patients.
Organizations
Publicaciones en Español
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La Enfermedad de Charcot-Marie-ToothInformación de La Enfermedad de Charcot-Marie-Tooth/Spanish-language information on La Enfermedad de Charcot-Marie-Tooth compiled
by the National Institute of Neurological Disorders and Stroke (NINDS).
Prepared by:
Office of Communications and Public Liaison
National Institute of Neurological Disorders and Stroke
National Institutes of Health
Bethesda, MD 20892
NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by
or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice
on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined
that patient or is familiar with that patient's medical history.
All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated.
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