Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease (CMT) is a collection of inherited conditions that harm the nerves, primarily those in your arms and legs. This nerve damage is often called peripheral neuropathy. Another name for this condition is hereditary motor and sensory neuropathy.

CMT typically leads to weaker, smaller muscles, especially in the limbs. People with CMT may also lose some feeling in their limbs (loss of sensation) and have problems with involuntary muscle contractions. This can make walking difficult. Common physical problems include foot deformities like hammertoes and high arches. The symptoms usually start in the feet and legs, but can eventually spread to the hands and arms.

Most people notice CMT symptoms during their teenage years or early adulthood, but it can sometimes develop later in life, even into middle age.

Charcot-Marie-Tooth disease (CMT) can cause a range of problems, often starting in the legs and feet. Common signs and symptoms include:

• Leg, ankle, and foot weakness: You might find it harder to use your legs, ankles, and feet normally.
• Muscle wasting: The muscles in your legs and feet might shrink and become smaller.
• High arches: Your feet might have unusually high arches.
• Curved toes: Your toes might curl or bend abnormally (hammertoes).
• Trouble with running: Running or jumping might become more difficult.
• Footdrop: You might have trouble lifting your foot at the ankle, which can cause you to drag your foot.
• Unusual walking: Your walk may become unsteady or awkward, with steps that are wider or higher than usual.
• Frequent falls: You might stumble or fall more often.
• Numbness or tingling: You might feel less sensation or have a loss of feeling in your legs and feet.

The symptoms of CMT often get worse over time. As the disease progresses, the problems can spread to your hands and arms. How severe the symptoms are can be different for each person with CMT, even in people within the same family. This is because the disease can affect people in different ways.

Charcot-Marie-Tooth disease is a condition that's passed down through families. It happens because of changes (mutations) in certain genes. These genes control the health of nerves in your feet, legs, hands, and arms.

These gene changes can sometimes directly harm the nerves themselves. Other times, the changes damage the protective layer around the nerves (called the myelin sheath). Either way, the result is that signals sent between your limbs and your brain become weaker or slower.

Charcot-Marie-Tooth disease (CMT) is passed down through families. If someone in your immediate family has CMT, you have a greater chance of getting it too. This is because the condition is inherited.

Some other medical problems, like diabetes, can cause nerve damage (neuropathy) that has similar symptoms to CMT. These conditions can also worsen the symptoms of CMT if you already have it. Certain medicines, such as chemotherapy drugs like vincristine (Marqibo) and paclitaxel (Abraxane), can also make CMT symptoms worse. It's important to tell your doctor about all the medicines you are taking, including over-the-counter medications and supplements. This will help your doctor understand all the possible factors contributing to your symptoms.

Charcot-Marie-Tooth disease can cause a range of problems, with the severity varying from person to person. One of the most common and noticeable issues is foot problems that make walking difficult. As the disease progresses, some people experience muscle weakness throughout their body. This weakness can increase the risk of injuries, because the affected areas may have reduced feeling.

For example, a person with Charcot-Marie-Tooth might not get the signal from their brain to tighten the muscles in their feet. This makes it easier to trip and fall. Similarly, the disease can affect the ability of the brain to receive pain signals from the feet. This means a small injury, like a blister, might go unnoticed and could become infected.

Beyond foot and leg problems, Charcot-Marie-Tooth can also impact other parts of the body. If the muscles involved in breathing, swallowing, or speaking are affected, people may experience difficulties with these functions.

During a physical exam, your doctor will look for signs of nerve damage. This might include:

• Muscle weakness: Your doctor will check your arms, legs, hands, and feet for weakness.
• Muscle loss: They might notice less muscle in your lower legs, giving them a thin, almost "inverted champagne bottle" shape.
• Reduced reflexes: Your doctor will check if your reflexes are normal.
• Numbness or tingling: Sensory changes, like numbness or tingling, in your feet and hands, are also important indicators.
• Foot problems: Your doctor will check for foot deformities like high arches or hammertoes.
• Other joint problems: They might also check for other problems like mild scoliosis (a curved spine) or hip dysplasia (a hip joint issue).

To better understand the extent of the nerve damage and its cause, your doctor might recommend these tests:

• Nerve conduction studies: These tests measure how fast and strong the electrical signals travel through your nerves. Small shocks are sent through your skin to stimulate the nerves. If the signals are slow or weak, it could mean a nerve disorder, like Charcot-Marie-Tooth disease (CMT).

• Electromyography (EMG): A thin needle is carefully placed into a muscle. Your doctor measures the muscle's electrical activity while you rest and then slightly contract the muscle. This helps pinpoint the location and spread of a potential disorder.

• Nerve biopsy: A small piece of nerve tissue is taken from your lower leg. A lab analysis can help distinguish CMT from other nerve disorders.

• Genetic testing: A blood sample can be used to check for specific gene changes linked to CMT. This can be helpful for family planning and can rule out other nerve problems. Genetic testing is becoming more common and more affordable. It's important to talk to a genetic counselor before testing so you understand the benefits and potential drawbacks of this type of testing.

These tests can help your doctor understand the specific nerve issue you might have and create a personalized treatment plan.

Charcot-Marie-Tooth disease (CMT) has no cure, but it usually progresses slowly and doesn't shorten a person's lifespan significantly. While there's no cure, several treatments can help manage the condition.

Managing Pain:

CMT can sometimes cause pain from muscle cramps or nerve damage. If pain is a problem, prescription pain medication might help.

Supporting Mobility:

Many people with CMT need support to maintain daily movement and prevent injuries. This is often achieved through specialized equipment:

• Braces and Splints: Leg and ankle braces or splints can help with stability when walking and climbing stairs. High-top shoes or boots can offer extra ankle support. Custom-made shoes or shoe inserts can also improve walking. If hand weakness makes gripping difficult, thumb splints might be helpful.

• Foot Surgery: If foot deformities are severe, surgery can correct the problem, reducing pain and improving walking. However, surgery won't reverse muscle weakness or loss of feeling.

Future Treatments and Therapies:

Researchers are exploring various potential treatments for CMT, including:

• Medications: New drugs might be developed to treat the disease.
• Gene Therapy: This involves altering genes to prevent the disease or its progression.
• In Vitro Procedures: These laboratory techniques could help prevent CMT from being passed on to future generations.

Staying Active with Therapy:

• Physical Therapy: Physical therapy helps strengthen and stretch muscles to prevent stiffness and loss of function. A physical therapist will design a program of low-impact exercises and stretches, supervised by a doctor. Starting physical therapy early and keeping up with it regularly can help prevent problems from getting worse.

• Occupational Therapy: CMT can make tasks like buttoning clothes or writing challenging due to arm and hand weakness. Occupational therapy can help by recommending assistive devices. These might include special grips for doorknobs or clothing with snaps instead of buttons.

Important Note: The need for specific devices and therapies varies greatly from person to person. A doctor can recommend the best approach for an individual with CMT.

Managing Charcot-Marie-Tooth Disease: At-Home Strategies

Charcot-Marie-Tooth disease (CMT) can cause various challenges, but many of its effects can be managed at home. Following consistent routines early on can significantly reduce complications.

Foot Care is Key: Because CMT often leads to foot deformities and a loss of feeling in your feet, regular foot care is crucial for symptom relief and preventing problems.

• Regular Stretching: Stretching helps maintain the flexibility of your joints, improving balance and coordination. It also helps prevent joint problems caused by uneven muscle pulls on the bones. Make stretching a part of your daily routine.

• Daily Exercise: Strong muscles and bones are essential for balance and preventing falls. Low-impact exercises like swimming or biking are gentle on the joints and muscles affected by CMT. Focus on activities that strengthen your muscles and support your balance.

• Improving Stability: Muscle weakness in CMT can make you unsteady. Using assistive devices like canes or walkers can improve your stability and reduce the risk of falls. Ensure good lighting, especially at night, to avoid tripping.

• Daily Foot Checks: Regularly inspect your feet for any signs of problems like calluses, sores, or infections. Early detection is critical for preventing serious issues.

• Nail Care: Regular nail trimming is essential. Cut your nails straight across to avoid ingrown nails. If you have trouble with sensation, circulation problems, or nerve damage in your feet, a podiatrist can safely trim your nails. They may even recommend a salon specializing in foot care.

• Proper Footwear: Wearing supportive shoes that fit well is vital. Boots or high-top shoes can provide extra ankle support. If you have foot deformities, such as hammertoe, consider custom-made shoes for proper fit and protection.

By consistently following these simple strategies, you can actively manage the effects of Charcot-Marie-Tooth disease and improve your overall well-being. Remember to consult with your doctor or a podiatrist for personalized advice tailored to your specific needs.