fbpx
  • Home  / 
  • Conditions
  •  /  Charcot-Marie-Tooth Disease Symptoms and Treatment

Charcot-Marie-Tooth Disease Symptoms and Treatment

Charcot-Marie-Tooth Disease
  •  
  •  
  •  
  •  
  •  
  •  

What is Charcot-Marie-Tooth Disease?

Charcot-Marie-Tooth disease (CMT) has nothing to do with teeth, as the name may suggest. Instead, it’s a hereditary neurological condition that afflicts the nerves outside your brain and spinal cord. People with the disease can have difficulty balancing and are born with foot deformities.

The nerve condition was first identified in 1886 by three doctors—Jean Charcot, Pierre Marie, and Howard Tooth. Today, CMT refers to a whole spectrum of genetic conditions. Researchers have, in fact, discovered 90 genetic varieties of CMT disease. It affects about 1 out of 2,500 Americans. (x)

Symptoms of CMT disease may include muscle wasting (atrophy) and weakness in the legs and feet, lower body pain, and difficulty walking or speaking. The good news is CMT isn’t a life-threatening disease and often won’t cause shorter-than-average life expectancy.

While Charcot-Marie-Tooth disease currently has no cure, there are various ways to manage its symptoms. These include taking medication, surgery, use of assistive devices, and engaging in lifestyle and home remedies like exercise, foot care, physical and occupational therapy, as well as the use of supplements.

Symptoms

CMT symptoms often occur in the teenage years or early adulthood. Key symptoms include (x):

  • Lack of sensation in the toes, fingers, and limbs
  • Weakness and muscle wasting in the lower leg, foot, forearm, and hands

Other symptoms can include (x):

  • Reduced reflexes
  • Scoliosis
  • Some hearing and vision loss
  • Cramping in the forearms and lower legs
  • Problems with balance and unstable ankles
  • Trouble using the hands
  • Abnormalities in foot muscles, resulting in hammertoes and high arches

The severity of symptoms varies greatly in people, even among family members who have inherited the disease. In fact, early on, individuals may have no idea that they have Charcot-Marie-Tooth disease as the symptoms are very mild.

CMT Symptoms in Children

If symptoms occur during childhood, the child may:

  • Have an abnormal gait, as it’s difficult for them to raise their feet from the ground with every step.
  • Be more ungainly than their friends and more likely to have accidents.
  • Have feet that go down forward when they raise their feet.

Other symptoms often occur as the child enters early adulthood, but they may appear at any time, from the early teens to the late 70s.

Over time, the shape of the leg may change, becoming extremely thin under the knee. However, the thighs retain normal muscle shape and volume.

Symptoms tend to deteriorate over time, possibly leading to:

  • Increased weakness in the arms and hands
  • Increased trouble using the hands–for instance, to open bottle tops and jars or button up clothing
  • Joint and muscle pain
  • Walking and mobility issues, especially in seniors
  • Neuropathic pain caused by damaged nerves
Charcot-Marie-Tooth Disease

Causes of Charcot-Marie Tooth Disease

CMT is caused by genetic mutations that afflict the peripheral nerves, which consist of two key parts: the axon and myelin sheath. The axon is the inside of the nerve, while the myelin sheath is the protective covering around the axon.

In patients with CMT, these nerves slowly degenerate and thus cannot communicate. When the motor nerves degenerate, muscle weakness and atrophy in the extremities (arms, legs, hands, or feet) occur. And when sensory nerves degenerate, it results in a reduced ability to feel heat, cold, and pain.

Types of Charcot-Marie Tooth Disease

Depending on the kind of CMT, the myelin sheath, the axon, or both can be affected. Various forms of CMT exist. Here are the major ones (x):

CMT 1

CMT 1 accounts for roughly two-thirds of cases (x). Symptoms usually appear from the age of five to 25 (x). In CMT 1, faulty genes cause the myelin sheath to fall apart. As the sheath withers, the axon is eventually damaged, and the individual’s muscles no longer receive clear instructions from the brain. This results in numbness, loss of sensation and muscle weakness.

CMT 1 subtypes are CMT1A and CMT1B. Symptoms may vary in each subtype.

CMT 2

CMT 2 affects about 17 percent of patients. In CMT 2, the faulty gene directly affects the axons (x). As a result, the axon can’t properly send signals to activate senses and muscle, so the patient experiences numbness or a weaker sense of touch, as well as weakened muscles.

CMT 3

Also known as Dejerine-Sottas disease, CMT 3 is a rare kind of CMT. CMT 3 damages the myelin sheath, resulting in severe muscle weakness. It also severely affects a patient’s sense of touch. Signs of CMT 3 normally appear in infancy.

CMT 4

CMT 4 is a rare problem that afflicts the myelin sheath (x). In general, symptoms manifest during childhood and individuals with CMT 4 usually need a wheelchair.

CMT X

This condition results from a mutation of the X-chromosome. It affects males more than females (x). Females with CMT X usually have mild symptoms or no symptoms at all.

Regardless of the form, Charcot-Marie-Tooth disease is hereditary, meaning people whose close family members have CMT have a greater risk of developing the disease.

Charcot-Marie-Tooth Disease Remedies and Supplements

Charcot-Marie-Tooth disease has no cure, but its symptoms can be managed. Treatment for the disease will depend on various factors, such as severity of symptoms, family history of the disease, age of onset, dispersal of muscle weakness, and whether any deformities have occurred or not.

Conventional Treatments

NSAIDs like ibuprofen may help relieve muscle and joint pain and pain associated with damaged nerves.

If NSAIDs fail to work, tricyclic antidepressants may be prescribed. Tricyclic antidepressants usually help treat depression but may also ease neuropathic pain.

In physical therapy, a therapist works with the patient to stretch and strengthen their muscles with low-impact workouts like aerobics, swimming, and biking. Doctors recommend beginning early, before your muscles begin to weaken.

If CMT has spread to your hands and arms, you may have a hard time completing daily tasks. But in occupation therapy, a therapist can work with you to increase your strength, flexibility, and grip.

Assistive devices, including orthopedic devices, splints, or braces can help patients stay mobile and avoid injury. Special boots or shoes with raised tops provide additional support to the ankles, and shoe inserts or special shoes can improve gait. Thumb splits can help with dexterity.

Cognitive behavioral therapy may help individuals with Charcot-Marie-Tooth disease to better cope with daily life and depression.

Surgery to remove a bit of tendon or separate fused bones in the feet can relieve pain and make it easier to walk. Surgery can also resolve flat feet, correct heel deformities, and alleviate joint pain.

Individuals with curvature of the spine (scoliosis) may require a back brace or surgery, if scoliosis is severe.

Genetic counseling and testing can help determine if a person with CMT is at risk of passing on the disease to their children.

Lifestyle Changes and Home Remedies

Some habits can help prevent complications arising from CMT and help you treat its symptoms. If these home remedies are started early and regularly practiced, they may provide relief and protection.

Exercise daily: Regular workouts keep your muscles and bones strong. Low-impact workouts, like swimming and biking, are less harsh on fragile joints and muscles. By strengthening your bones and muscles, you can improve your coordination and balance, reducing your risk of injury associated with falling or tripping.

Improve your stability: Charcot-Marie-Tooth disease causes muscle weakness, which may make you unstable on your feet, leading to falls and severe injury. You can improve your stability by walking with a walker or a cane. At night, proper lighting may help you avoid slipping and falling.

Stretch regularly: Stretching can help maintain or improve your joints’ range of motion and lower your risk of injury. It also helps you improve your flexibility, coordination, and balance. If you have CMT disease, regular stretching may reduce or prevent joint deformities.

Foot Care

Due to loss of sensation and foot deformities, regularly taking care of your feet is essential to help ease CMT symptoms and prevent complications.

Wear appropriate shoes: Choose protective shoes that fit you properly. Consider wearing high-top shoes or boots to support your ankle. If you have foot deformities like hammer toe, consider having your shoes custom made.

Inspect your feet: Examine them every day to prevent wounds, infections, ulcers, and calluses.

Look after your nails: Regularly cut your nails. To prevent infections and ingrown toenails, cut your nails straight across and don’t cut into the edges of the nailbed.

If you have issues with sensation, circulation, or nerve damage in your feet, let a podiatrist cut toenails for you. Your podiatrist can also suggest a salon, where your toenails can be trimmed safely.

Eat a Nutrient-Rich Diet

No specific diet can help treat or cure Charcot-Marie-Tooth disease. But a healthy diet can help reduce inflammation levels and thus help you manage symptoms. Here are tips for eating a healthy, anti-inflammatory diet.

  • Eat loads of fiber-rich foods, especially vegetables, fruits, seeds, and nuts.
  • Avoid foods containing added sugar, synthetic chemicals, and artificial ingredients.
  • Include antioxidant-rich foods in all your meals, especially whole fruits and vegetables. These provide vitamins, fiber, and vital electrolytes like potassium and magnesium.
  • Consume healthy fats like coconut milk or coconut oil, olive oil, seeds, nuts, and avocado.
  • Eat protein to maintain your muscle mass. Good sources of protein include grass-fed beef, pasture-raised poultry, wild-caught fish, and eggs. Fish contain omega-3s that are good for your heart, lower triglycerides and help reduce the risk of diabetes. You can also eat sprouted legumes and beans, which are also packed with fiber.
  • Drink plain water, coffee, and tea, but with less sugar. When cooking or baking, use a natural non-calorie sweetener like stevia extract powder (x).

Supplements for CMT

Some supplements may help reduce the symptoms of Charcot-Marie-Tooth disease. They include:

Vitamin C

Some animal studies have shown that vitamin C helps relieve CMT symptoms. It works by decreasing inflammation and easing unfolded protein responses (x).

You can increase your vitamin C intake naturally by consuming foods like citrus fruits, berries, papaya, bell peppers, green leafy vegetables, and kiwi.

You can also take ascorbic acid (vitamin C) powder. As a dietary supplement, take 1,000 mg (1/4 tsp) up to three times daily or as directed by your physician.

Turmeric

Like vitamin C, turmeric (a compound in curcumin) can help fight inflammation. You can increase your turmeric intake by using this herb to spice up recipes.

You can also take turmeric supplements. As a dietary supplement, take 1,000 mg (just under 1/2 tsp) of curcumin (turmeric) extract powder daily, or as directed by your physician.

Peppermint

Peppermint extract powder, sourced from a plant known as herba menthae, is both a spice and herbal supplement. It promotes digestive health and relieves stomachaches, heartburn, and nausea–all side effects of CMT.

As a dietary supplement, take 700 mg (about 1/3 tsp) once or twice daily, or as directed by your physician.

The Bottom Line

Charcot-Marie-Tooth disease (CMT) is a group of related hereditary neurological conditions. While it isn’t life-threatening, it does make life difficult. The good news is, if you have CMT, you can manage your symptoms in several ways. Engage in regular exercise, eat a nutrient-rich diet, and supplement with vitamin C, turmeric, and peppermint. With guidance from your doctor, you can relieve some of CMT’s symptoms for an improved quality of life.*

By: Haron Omaita

About the author

Rita Magallona


Let's Be Friends

>