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 Charcot-Marie-Tooth disease

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PostSubject: Charcot-Marie-Tooth disease   Charcot-Marie-Tooth disease EmptyThu Jan 20, 2011 12:38 pm

Charcot-Marie-Tooth disease
Filed under: Brain & Nervous System
Charcot (shahr-KOH)-Marie-Tooth disease, also known as hereditary motor
and sensory neuropathy, is a group of hereditary disorders that affects
the nerves in your arms and legs. The disease predominantly causes
muscle weakness and decreased muscle bulk with typically limited
decreased sensation. With Charcot-Marie-Tooth disease, symptoms may vary
widely in severity, even among family members, but tend to slowly
worsen over time.

Charcot-Marie-Tooth symptoms usually begin in your feet and legs, but
may also eventually affect your hands and arms. Foot deformities such as
hammertoes and high arches are common in Charcot-Marie-Tooth disease.
Muscle weakness and loss of balance can make walking difficult. Symptoms
of Charcot-Marie-Tooth disease typically appear in adolescence or early
adulthood, but late onset also occurs.

©
Symptoms

Signs and symptoms of Charcot-Marie-Tooth disease may include:

* Weakness in your legs, ankles and feet
* Loss of muscle bulk in legs and feet
* High foot arches
* Curled toes (hammertoes)
* Decreased ability to run
* Difficulty lifting your foot at the ankle (footdrop)
* Awkward or higher than normal step (gait)
* Frequent tripping or falling
* Decreased sensation in your legs and feet
* Numbness in the legs and feet

As Charcot-Marie-Tooth disease progresses, symptoms may not be limited
to the feet and legs but may also involve the thighs, hands and arms.
Charcot-Marie-Tooth disease generally doesn't cause pain.

©
Causes

Charcot-Marie-Tooth disease is a group of related conditions all caused
by inherited mutations in genes involved with the structure and function
of the nerves that serve your feet, legs, hands and arms.

In some cases, these genetic mutations result in damage to the nerve
itself. Other mutations damage the myelin sheath, the protective coating
that surrounds the nerve. The end result, however, is the same — weaker
messages traveling between your extremities and your brain.

That means some of the muscles in your feet may not receive your brain's
signal to contract, so you're more likely to trip and fall. And your
brain may not receive pain messages from your feet, so if you've rubbed a
blister on your toe, for example, it may get infected without your
realizing it.

©
Risk factors

Charcot-Marie-Tooth disease is hereditary, so you're at higher risk of
developing the disorder if anyone in your immediate family has had the
disease. Other causes of neuropathies, such as diabetes, may cause
symptoms of or worsen Charcot-Marie-Tooth disease.

©
Complications

Complications of Charcot-Marie-Tooth disease vary in severity from
person to person, with foot abnormalities and difficulty walking
generally being the most serious problems. Muscle weakness may also
increase, and injury to areas of the body with decreased sensation may
occur.

©
Preparing for your appointment

You might first discuss your symptoms with your family doctor, but he or
she will probably refer you to a neurologist for further evaluation.

What you can do
Because appointments can be brief, plan ahead and write lists of important information, including:

* Detailed descriptions of all your symptoms
* All your medications and dosages, including nonprescription drugs and supplements
* Questions for the doctor, such as what tests or treatments he or she may recommend

What to expect from your doctor
Your doctor will want a detailed description of your symptoms and will
ask if anyone in your family has ever had similar symptoms.

During the physical exam, your doctor may check for:

* Signs of muscle weakness in your arms, legs, hands and feet
* Decreased muscle bulk in your legs, resulting in an "inverted champagne bottle appearance"
* Reduced reflexes
* Sensory loss in your feet and hands
* Foot deformities, such as high arches or hammertoes
* Other orthopedic problems, such as mild scoliosis or hip dysplasia

©
Tests and diagnosis

Your doctor may recommend the following tests, which can help provide
information about the extent of your nerve damage and what may be
causing it.

* Nerve conduction studies. These tests measure the strength and
speed of electrical signals transmitted through your nerves. Electrodes
are placed on your skin and deliver small electric shocks that stimulate
the nerve. Delayed or weak responses may indicate a nerve disorder such
as Charcot-Marie-Tooth disease.
* Electromyography (EMG). A thin needle electrode is inserted
through your skin into the muscle to be tested. Electrical activity is
measured as you relax and as you gently tighten the muscle. Your doctor
may be able to determine the distribution of the disease by testing
different muscles.
* Nerve biopsy. A small piece of peripheral nerve is taken from the
calf of your leg through an incision in your skin. Laboratory analysis
of the nerve distinguishes Charcot-Marie-Tooth disease from other nerve
disorders.
* Genetic testing. These tests, which can detect the most common
genetic defects known to cause Charcot-Marie-Tooth disease, are done by
blood sample. Genetic testing may give people with the disorder more
information for family planning.

©
Treatments and drugs

There's no cure for Charcot-Marie-Tooth disease. However, some treatments can help you manage its signs and symptoms.

Medications
Though most people with Charcot-Marie-Tooth disease do not experience
pain, some people may experience pain due to muscle cramps or nerve
damage. In such cases, prescription pain medication may be required to
control it.

Therapy

* Physical therapy. Physical therapy for Charcot-Marie-Tooth disease
involves muscle strengthening and stretching to prevent muscle
tightening and loss. A physical therapy program usually consists of
low-impact exercises and stretching techniques guided by a trained
physical therapist and approved by your doctor. Started early and
followed regularly, physical therapy can play an important part in
delaying nerve deterioration and muscle weakness before disability
occurs.
* Occupational therapy. Some people with Charcot-Marie-Tooth disease
may experience weakness in their arms and hands, causing difficulty
with gripping and finger movement. Normal daily activities, such as
fastening buttons or writing, can become difficult. Occupational therapy
can help you deal with such challenges through the use of assistive
devices, such as special rubber grips on doorknobs or clothing with
snaps instead of buttons.
* Orthopedic devices. Many people with Charcot-Marie-Tooth disease
require the help of certain orthopedic devices to maintain everyday
mobility and to prevent injury. Leg and ankle braces or splints can
provide stability during walking and climbing stairs. Wearing boots or
high-top shoes may provide additional ankle support. Custom-made shoes
or shoe inserts may improve your gait. If you have hand weakness and
difficulty with gripping and holding things, thumb splints may help.

Surgery
If foot deformities are severe, corrective foot surgery may help
alleviate pain and improve your ability to walk. But surgery can't
improve weakness or loss of sensation.

©
Lifestyle and home remedies

Certain tactics may prevent complications caused by Charcot-Marie-Tooth
disease and improve your ability to manage the effects of the disorder.

Started early and followed regularly, at-home activities can provide protection and relief:

* Stretch regularly. The goal of stretching is to improve or
maintain the range of motion of your joints. Stretching improves your
flexibility, balance and coordination. Stretching may also reduce your
risk of injury. If you have Charcot-Marie-Tooth disease, regular
stretching can prevent or reduce joint deformities that may result from
uneven pulling of muscle on your bones.
* Exercise daily. Exercising every day keeps your bones and muscles
strong. Low-impact exercises, such as biking and swimming, are less
stressful on fragile muscles and joints. By strengthening your muscles
and bones, you can improve your balance and coordination, reducing your
risk of falls.
* Improve your stability. Muscle weakness associated with
Charcot-Marie-Tooth disease may cause you to be unsteady on your feet,
which can lead to falling and serious injury. Walking with a cane or a
walker can increase your stability. Good lighting at night can help you
avoid stumbling and falling.

Foot care is important
Because of foot deformities and loss of sensation, regular foot care is
important to help relieve symptoms and to prevent complications:

* Inspect your feet. Daily inspection of your feet is important to prevent calluses, ulcers, wounds and infections.
* Take care of your nails. Cut your nails regularly. To avoid
ingrown toenails and infections, cut straight across and avoid cutting
into the nailbed edges. Consider regular professional pedicures.
* Wear the right shoes. Use shoes that fit properly and are roomy
and protective. Consider wearing boots or high-top shoes for ankle
support.
* Soak and moisturize the skin of your feet. Brief, daily cold and
warm foot soaks followed by the application of moisturizing lotions keep
the skin of the feet moist and pliable. This can be very effective in
reducing neuropathic pain and foot discomfort.

©1
Coping and support

Support groups, in conjunction with your doctor's advice, can be
valuable in dealing with Charcot-Marie-Tooth disease. Support groups
bring together people who are coping with the same kinds of challenges,
along with their families and friends, and offer a setting in which
people can share their common problems.

Ask your doctor about support groups in your community. Your local
health department, public library and telephone book and the Internet
also may be good sources to find a support group in your area.

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