(Also Called 'CMT (Charcot-Marie-Tooth Disorder)', 'Hereditary Sensory Motor Neuropathy', 'Peroneal Muscular Atrophy')
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.
Organizations
Charcot-Marie-Tooth Association (CMTA)
2700 Chestnut Parkway
Chester, PA 19013-4867
info@charcot-marie-tooth.org
www.charcot-marie-tooth.org
Tel: 610.499.9264 800.606.CMTA (2682)
Fax: 610.499.9267
Muscular Dystrophy Association
3300 East Sunrise Dr
Tucson, AZ 85718-3208
mda@mdausa.org
www.mda.org
Tel: 520.529.2000 800.572.1717
Fax: 520.529.5300
Neuropathy Association
60 East 42nd Street, Suite 942
New York, NY 10165-0999
info@neuropathy.org
www.neuropathy.org
Tel: 888.PN.FACTS (888.763.2287)
Fax: 212.692.0668
Hereditary Neuropathy Foundation, Inc
1751 2nd Avenue, Suite 103
New York, NY 10128
info@hnf-cure.org
www.hnf-cure.org
Tel: 877.463.1287 212.722.8396
Source: National Institutes of Health; National Institute of Neurological Disorders and Stroke
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