CMT Survey
CMT Survey: Results
Check Your Drugs for interactions with other drugs.
Diagnosis of CMT
Doctor's Guide Daily Neurology News Update
Doctor's Guide Daily Surgical News Update
Doctor's Guide Daily General Medical News Update
Drug Cautions In CMT
Internet Support for CMTers
Journal Articles Written About CMT
Life Beyond CMT
MDA Support
Rehabilitation + Exercise in CMT
Support Organizations
The Problem of AFOs In CMT
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Charcot-Marie-Tooth Disease (CMT) or (CMTD) is a group of
inherited diseases of the nervous system. It is also known as Hereditary
Motor Sensory Neuropathy (HMSN) and Peroneal Muscle Atrophy. CMT was
named after three doctors who originally described it in 1886. They are Professor
Jean-Martin Charcot (1825-1893), his student Pierre Marie (1853-1940) of Paris,
France and Dr Howard Tooth (1926-1956) of London, England. Dr Charcot and Dr
Marie worked at the Hôpital de Salpetriere which was named after the former
gunpowder factory site where it still stands. This group of neurological diseases are
characterized by slowly progressive degeneration of the nerves outside the brain
and
spinal cord. This degeneration causes loss of use of the muscles
in the toes, feet, lower legs, fingers, hands, and forearms as well as a
loss of sensation in a stocking and glove distribution.
There are over 20 different types of this disease, based on their
inheritance pattern, however, there are only two recognized categories
into which these types fall. The first category, is the demyelinating
or hypertrophic form of the disease in which the covering over the
nerve (myelin) breaks down causing slowing of the messages
from the brain to the muscles. As the nerves demyelinate, the nerve
fiber is also affected causing the messages sent by the brain, to not
reach all areas of the muscle. The muscle then atrophies (shrinks) due
to lack of nerve supply. The second category is the axonal or
neuronal form of CMT. It is characterized by death of the nerve
fiber. In this form, the remaining live nerves attempt to take over, but
the messages do not get to all areas of the muscle, causing muscle
atrophy (shrinkage) due to lack of nerve supply.
Within the categories, are the types. Included in the demyelinating
form are CMT Type 1, CMT Type 3 and CMT Type 4. Included in the
Axonal form are CMT Type 2, HMSN Type 5 and HMSN Type 6. Each type has several sub-types
based on the specific gene defect, mode of inheritance and nerve
pathology associated with that type.
The first signs of CMT are generally foot deformities (either
high-arched feet or flat feet with claw or hammer-shaped toes),
or gait disturbances (inability to walk normally). Other symptoms
of this disorder may include problems with balance, scoliosis
(curvature of the spine), loss of normal muscle reflexes, pain or
cramping in the lower legs, feet, forearms and hands, and in rare
cases partial loss of sight and partial hearing loss. Digestive
problems and breathing problems have been noted in isolated cases
of CMT. The genetic opposite of CMT type 1A is a disease known as
Hereditary Neuropathy With Liability to Pressure Palsies. It is
often misdiagnosed as CMT.
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