CHARCOT-MARIE-TOOTH DISEASE; SYMPTOMS AND CAUSES

Charcot-Marie-Tooth disease is named after the three physicians who were first
described this disorder in 1886. They were Jean-Martin Charcot, Pierre Marie of France, and
Howard Henry Tooth of the United Kingdom. Charcot-Marie-Tooth (CMT) disease is a group of
inherited disorders that cause nerve damage which is peripheral nerve. The disease occurred
due to the duplication of the chromosomes. It is known to map to the chromosome number 1,
chromosome 17 and also chromosome X. The disease is rare as it only affecting 1 over 2,500
people.

CMT disease correspond with axon and Schwann cells. The interaction between them
that send impulse throughout the body. For instance, axon acts as a sender for chemical
message that triggered Schwann cell for myelin formation. The message then return back from
Schwann cell to nourish and protect the axons. But for this case, their interaction has been
disrupted by any genetic defects.

There are few types of CMT that can be distinguished by their inheritance pattern or
severity. For example, CMT1-CMT2, CMT4, CMTX, Congenital Hypomyelinating Neuropathy
(CNH) and Dejerine-Sottas Disease. Charcot-Marie-Tooth disease typically appear in
adolescence or early adulthood, but may also develop in midlife.

The symptoms and signs for each type of CMT is vary greatly based on their body.
General CMT may results in muscle that become weaken especially at the muscle part that
control the leg like ankle and feet, forearm and hands. The weakness continues until the person
facing the difficulty to lift foot at the ankle, thus the toes point downward during walking (foot
drop). Moreover, this disorder related to connection between axon, so the person might suffer
for sensory loss. Person with the disease will experience in decreasing of sensation commonly
at the targeted part which are legs and feet. It can be burning sensation at the hands and legs,
it may feel discomfort and pain. As time goes by, the patient will no longer sense the changes in
temperature with their hands and legs as the damage of sensory nerve fibers (axons). Other
than that, they might face dry skin, hair loss and in rare cases, it might impact patients’ ability
to hear and sometimes deafness. Lastly, the contraction and bone deformities. It is because the
muscle around joint area is weaken and continuous movement of the joint will make it shift
into abnormal positions. For example, ankle joint become weaken so it cannot make a rough
movement. Somehow it makes the toes curled and it is difficult to run. Severe cases may lead
to scoliosis.
 CMT damages the axon that connect with spinal cord and also the other part of the
body. Axons transmit impuls for sensation and movement. They are approximately around 30
genes that contribute in Charcot-Marie-Tooth disease. For every type of CMT, peripheral nerve
damage can be caused by either defects in genes coding for proteins affecting axons or
insulating myelin coating around each axon or both.
In order for a person to move and react with precision and speed, axons have to transmit their
signals in second. This is a real challenge for axons that have to stretch over long distances, like
the ones connected to muscles in fingers and toes. The longest axons in the body are especially
sensitive to damage, which explains why CMT mostly causes motor and sensory problems in the
body’s extremities.

Thus, Charcot-Marie-Tooth disease is hereditary disorder and still can be controlled by

practicing harmless dietary supplement as to treat it.