NINDS Charcot-Marie-Tooth Disorder Information Page: NINDS
Article title: NINDS Charcot-Marie-Tooth Disorder Information Page: NINDS
Conditions: Charcot-Marie-Tooth Disorder
Charcot-Marie-Tooth disorder (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
patients, scoliosis (curvature of the spine).
CMT is a disorder of genetic
heterogeneity, in which mutations in different genes can produce the same
clinical symptoms. In CMT, there are not only different genes but
different patterns of inheritance. The most common type, CMT1A, is
inherited in an autosomal dominant pattern. This means that if one parent
has CMT there is a 50 percent chance of passing the disease on to each
child. Other types are autosomal recessive or sex-linked CMT.
Each type is
characterized by symptoms ranging from severe weakness and wasting of leg
and hand muscles to very mild symptoms or no symptoms at all.
expression of CMT's clinical symptoms generally occurs by age 30.
severe symptoms are related to an earlier age of onset.
Is there any
There is no cure or specific treatment for CMT. Proper
foot care including custom-made shoes and leg braces may minimize
discomfort and increase function. Physical therapy and moderate activity
are often recommended to maintain muscle strength and endurance. For some
patients, surgery may be beneficial.
What is the prognosis?
is not a fatal disease and the disorder does not affect normal life
expectancy. Most individuals with CMT continue to work. Wheelchair
confinement is rare.
What research is being
The NINDS supports research on neurogenetic disorders such as
CMT in an effort to learn how to better treat, prevent, and eventually
cure these disorders.
Charcot-Marie-Tooth Association (CMTA)
2700 Chestnut Parkway
Chester, PA 19013
610-499-9264 800-606-CMTA (2682)
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
This fact sheet is in the public domain. You may copy it.Provided
The National Institute of Neurological Disorders and Stroke
National Institutes of Health