Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth disease, also called hereditary Motor and Sensory Neuropathy, refers to a group of inherited nerve-damaging disorders in which motor and sensory nerves in your limbs (peripheral nerves) are affected.

The typical signs and symptoms include weakened muscles, reduced muscle bulk and numbness in the affected areas.

Other characteristic signs are foot deformities such as hammertoes and high arches. Initially, your feet and legs are affected but more advanced disease can affect your hands and arms too.

You may also have difficulty walking due to muscle weakness and balance problems.

Usually, onset of symptoms is in adolescence or early adulthood but some people may develop the condition in mid-adulthood.

You may experience signs and symptoms of Charcot-Marie-tooth disease such as:

• Weakness in your legs, ankles and feet
• Reduced muscle mass in legs and feet
• High foot arches
• Curled toes (hammertoes)
• Difficulty running
• Difficulty lifting front part of the foot (foot drop)
• Awkward or higher than normal step (gait)
• Frequent tripping or falling
• Numbness in your legs and feet

Initially, the condition affects legs and feet but as it progresses, it may also involve the hands and arms.

The symptoms are highly individualistic and have a wide variation in the severity.

Genetic mutations are the main causes of Charcot-Marie-tooth disease. The condition affects both the sensory and motor peripheral nerves. Genetic mutations affect the structure and function of the nerves that supply your feet, legs, hands and arms.

Nerve damages include damages to the protective covering of the nerve, myelin sheath.

Consequently, communication between limbs and brain is impaired. For examples, brain impulses signaling muscle contraction do not reach the destinations like muscles of leg and feet. Likewise,, the pain signals from your feet do not reach the brain.

The diagnosis of Charcot-Marie-tooth disease typically begins with physical examination to determine if there is muscle weakness in your arms, legs, hands and feet.

Talk to your doctor if you have any signs and symptoms of the condition. Your doctor may refer you to a neurologist thenafter.

How to prepare yourself for the visit

Getting prepared for the visit can optimize the therapy and help make the visit more fruitful.

• List out all the symptoms
• Write down your key medical information.
• Write down the names of all your medications, vitamins or supplements.
• Make a list of the questions to ask your doctor.

Some typical question can be:

• What could be probable cause of my symptoms?
• What are the test available?
• How long will the condition persist?
• What are the treatment options and their possible side effects?
• Do I need to limit my activity?
• What your doctor wants to know?

A clear talk with your doctor can optimize the therapy and improve the outcomes. Prepare yourself to answer some essential questions from your doctor.

Your doctor might ask you typical questions like:

• When did the symptoms start appearing?
• How severe are your symptoms?
• Are the symptoms persistent or intermittent?
• Does any factor improve or worsen your symptoms?
• Does anything make your symptoms worse?
• Do you have a family history of similar condition?

Your doctor may look for other characteristic features of the condition like:

• Muscle mass in your lower legs, which is decreased and the legs look like an inverted champagne bottle
• Sensory reflexes which are reduced
• Sensation in your feet and hands which is reduced
• Foot deformities, such as high arches or hammertoes

Additionally, you may be recommended following tests for further details on extent of nerve damage:

• Nerve conduction studies: This test measures the strength and speed of nerve signals passing through your nerves. It helps to determine if nerve conduction is affected, probably due to Charcot-Marie-Tooth disease. It involves stimulation of nerves by applying small electric shocks produced by electrodes on your skin.
• Electromyography (EMG)
• Electromyogram: Electromyography helps to evaluate muscle response when the nerve is stimulated. Electrical activity, when you relax and contract your muscle, is measured. The test is performed on different probable sites to determine if the disease has spread.
• Nerve biopsy: An incision is made on your calf and a small piece of peripheral nerve is removed. The nerve is sent to lab for further analysis which helps to differentiate Charcot-Marie-Tooth disease from other nerve disorders.
• Genetic testing: A blood test is carried out to detect if you have specific genetic defects that are likely to cause Charcot-Marie-Tooth disease. Before you make up your mind for genetic testing, talk to your doctor to find out the pros and cons of testing.

There are several treatment methods used to manage Charcot-Marie-Tooth disease.

As with most genetic disorders, no cure for Charcot-Marie-Tooth disease has been discovered yet. The good news is, this condition has a slow progression and life expectancy is reduced.

Some treatments aimed at managing the condition are:

• Medications: Prescription pain killers might provide some relief to the patients having pain arising from muscle cramps and nerve damage.
• Therapy:

1. Physical therapy: Consult a trained physical therapist to look for low-impact exercises and stretching techniques that might help to delay nerve deterioration, muscle loss and muscle weakness. Started early, these exercises can effectively push back disability.
2. Occupational therapy: Weakness in arms and hands can affect your grip strength and finger movement. Consequently, it may interfere with daily activities such as fastening buttons or writing. Occupational therapy can provide you alternate ways to cope with the situation. For example, wearing clothing with snaps instead of buttons.

• Orthopedic devices: Orthopedic devices may help you walk and prevent tripping or falling. You can use leg and ankle braces or splints while walking and climbing stairs. You may consider using custom-made shoes or shoe inserts to improve your gait. For hand weakness and difficulty with gripping and holding things, consider using thumb splints.
• Surgery: Surgery can be performed to correct severe foot deformities. Corrective foot surgeries can alleviate pain and improve ability to walk. Note that surgeries are of no help in improving weakness and feelings of senselessness.
• Future treatments: A large number of studies are being carried to find out potential therapies for treating Charcot-Marie-Tooth disease. The most interesting of them is Gene therapy, which may fix the genetic defect that causes the disease. Some treatments to treat and manage the nerve damages are also under investigation. Remember that, there is still a long way to go before all these therapies become available for the affected ones. Till then, we have some coping skills for you.

Lifestyle modifications are necessary in order to cope with Charcot-Marie-Tooth disease.

There are a few things you can do to prevent complications and manage the effects of the condition.

Here are some of the activities to help you keep moving:

• Stretch regularly: You can engage in regular stretching exercises to improve joint movement, flexibility, balance and coordination. They may also help to prevent or reduce joint deformities, a common occurrence in patients with Charcot-Marie-Tooth disease.
• Exercise daily: Daily exercise has numerous benefits. It can keep you strong and help you improve balance and coordination. Consider low-impact exercises, such as biking and swimming, are less stressful on fragile muscles and joints.
• Improve your stability: Muscle weakness can cause balance problems increasing your risk of falling and sustaining serious injury. Use a cane or a walker to increase your stability.
• Good Lighting: During the night, good lights increase your visibility and reduces your risk of stumbling and falling.
• Foot Care: As sensory perceptions are diminished in the affected foot, there is an increased chance that you will get an infection due to injury. Inspect your foot regularly to find an evidence of wound or infection, keep it clean and seek medical help if a wound has developed. Cut your nails regularly and properly, avoid any injury during cutting the nails. Get your nails trimmed by a foot doctor (podiatrist) if necessary.
• Wear the right shoes: Shoes with right fit are important to avoid injury that might result from daily use of “too tight” or “too loose” shoes. For ankle support, you may use boots or high-top shoes.
• If you have a hammertoe, a deformity that causes your toe to curl downward, you can customize your shoe according to your need.
• Support groups: Being together with the people suffering the same situation might boost your self-esteem and help you learn to be happy with yourself. Talk to your doctor to find out the one that suits your needs. Alternately, get information about the support groups from internet, local health department, public library and telephone book.

There are several risks and complications associated with Charcot-Marie-Tooth disease.

Risk

Since the disease is inheritable, family history of the disease puts at a greater risk.

Also, diabetes can cause symptoms of or worsen Charcot-Marie-Tooth disease.

Complications

The most serious problems of Charcot-Marie-Tooth are foot abnormalities and difficulty walking.

Complications include progressive increase in muscle weakness and potential injury to desensitized body parts.