Charcot-Marie-Tooth Disease (+ 5 Ways to Help Symptoms)
Despite what the name may sound like, Charcot-Marie-Tooth disease (also called CMT disease) has nothing to do with your teeth. CMT disease is actually an inherited neurological disorder named after the three doctors who first identified the disease in the 1880s: Jean-Martin Charcot, Pierre Marie and Howard Henry Tooth.
The National Institute of Neurological Disorders and Stroke estimates that about 1 in 2,500 people in the United States suffers from Charcot-Marie-Tooth disease, and about 2.8 million people worldwide, making it the most common hereditary neuropathy. (1) Both sexes, and people of all ethnicities, can be born with CMT disease.
Symptoms caused by CMT disease can include pain in the lower body, muscle weakness and muscle wasting (atrophy) in the feet and legs, and trouble walking or speaking. Fortunately, CMT is not considered a fatal disease and usually will not result in shorter-than-normal life expectancy. There is currently no cure available for CMT disease, but there are many ways to help naturally manage Charcot-Marie-Tooth symptoms. These natural treatment approaches include physical therapy, occupational therapy, using natural pain-killers, and utilizing braces and other orthopedic devices.
What Is Charcot-Marie-Tooth Disease?
Charcot-Marie-Tooth Disease (or CMT disease) is not one single disease, but rather describes a spectrum of related neurological disorders. There are at least seven different types of Charcot-Marie-Tooth disease that have been recognized, each one being caused by a different genetic mutation. More than two dozen genes have been identified in which mutations can cause CMT. (2) The most common type of Charcot-Marie-Tooth disease, called CMT type 1 (or just CMT1), affects myelin, the fatty substance that surrounds the axon of some nerve cells, which helps nerves to send electrical signals.
CMT disease is a type of peripheral neuropathy, meaning it affects peripheral nerves, which connect from the spinal cord to the limbs. It causes neuropathy and sensory changes, may lead to deformities, and interferes with the ability of muscles to contract voluntarily. Charcot-Marie-Tooth disease is also sometimes referred to by other names, including: hereditary motor and sensory neuropathy (HMSN) and peroneal muscular atrophy.
A common question is whether Charcot-Marie-Tooth disease is a form of muscular dystrophy.
The answer is yes, CMT disease is considered a type of muscular dystrophy because it’s a condition that causes muscle wasting. (3) CMT disease is different than other types of muscular dystrophy because it affects someone’s nerves rather than their actual muscles. Both motor and sensory nerves are impacted by CMT disease, resulting in changes in how sensory stimuli are perceived and control over activities of the muscles and organs. Muscular dystrophy affects the muscles themselves. Both conditions can cause similar symptoms, such as weakness in the legs and trouble moving normally, but their pathology is different.
Signs & Symptoms of Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease is a progressive disorder, meaning symptoms tend to increase with age. Symptoms might become more intense at times due to factors like hormonal changes, such as pregnancy, or due to increased physical/mental stress. For many people symptoms will affect the feet and ankles first, then move up the spinal cord to the upper body, arms and hands.
The most common symptoms caused by Charcot-Marie-Tooth disease include: (4)
- Mild-to-severe pain or muscle cramps in the legs and feet.
- Muscular weakness, especially in the limbs and lower body. The main muscles in the legs that suffer from most types of CMI are the peroneal and tibial muscles located around the calves, shins and ankles. The leg muscles may experience atrophy and become disproportionately small.
- Changes in motor control and muscular functions. This can cause trouble walking, breathing, speaking, chewing and swallowing.
- Development of food deformities, which can include “stork legs” (due to muscle loss), “drop foot,” high arches, hammertoes and/or a high-stepped gait. This can result in difficulty lifting the foot at the ankles, trouble walking or running, and awkward or higher than normal steps (gait).
- Development of contractures (stiffened joints due to abnormal tightening of muscles and tissues).
- Sensory changes and loss.
- Loss of balance and coordination, sometimes which causes frequent tripping or falls.
- The lower legs becoming inverted due to the loss of muscle (muscle atrophy).
- Weakness in the hands, resulting in difficulty gripping, carrying, writing or with other “fine motor skills” involving use of the fingers, hands and wrists.
- Loss of control over the tongue, leading to speech problems and difficulty eating.
- In some cases scoliosis may develop, which is characterized by abnormal curvature of the spine.
- In some cases, respiratory impairment and trouble breathing if the diaphragm or intercostal muscles (between the ribs) are affected.
Symptoms of Charcot-Marie-Tooth disease usually begin in adolescence or early adulthood, although it’s also possible for them to start at a later age during mid-adulthood. Usually symptoms will gradually worsen as the condition progresses.
CMT Disease Causes & Risk Factors
What is the cause of CMT disease? Charcot-Marie-Tooth Disease is inherited (passed from parents to their offspring) and results from certain genetic mutations. The genetic defects that are involved in CMT disease affect the feet, legs, hands and arms. There are a number of different types of CMT disease, each type being caused by a different mutation and defect. Some of the primary types of CMI include: CMT1A, CMT1B, CMT2, CMT3, CMT4, and CMTX. CMT1 and CMT2 are the two primary types, while the others are considered subtypes.
- Charcot-Marie-Tooth disease type 1 (CMT1) — This is the most common type and is caused by abnormalities in the myelin sheath. CMT1A is caused by changes in the way that peripheral myelin protein-22 (PMP-22) is made, while CMT1B is caused by mutations in the gene that carries the instructions for manufacturing the myelin protein zero (P0). Axons cannot work properly when the myelin is damaged or destroyed.
- Charcot-Marie-Tooth disease type 2 (CMT3) — This type is caused by abnormalities in the axon of the peripheral nerve cell. It results in changes in production of Mitofusin 2 and Kinesins proteins that help with motor control. Even though the myelin sheath might not be damaged due to this type, the axons still cannot work properly.
- CMT3 — A rare, severe type that begins in infancy and causes muscle atrophy, weakness and sensory problems.
- CMT4 — Caused by a number of different gene mutations that cause demyelinating motor and sensory neuropathies, leading to leg weakness that begins during childhood.
Are there any specific risk factors for Charcot-Marie-Tooth disease? Because the disease is hereditary, you have a higher risk of developing the disorder if you have a family history of the disorder (someone in your immediate family has had the disease). If you have another disease that contributes to neuropathy, such as diabetes, then your symptoms might become worse.
Is Charcot Marie Tooth disease dominant or recessive?
It depends on the specific type of CMT disease. According to the Muscular Dystrophy Association, “CMT can be inherited in three different ways that aren’t always easy to trace through a family tree: X-linked, autosomal dominant and autosomal recessive.” (5) X-linked means that the genetic defect (or mutation) is located on the X chromosome, so males are usually affected more severely. Autosomal means the mutation occurs on a chromosome other than the X or Y, so both males and females can be affected equally. Autosomal dominant means that just one copy of a defective gene is enough to cause the disease, while autosomal recessive means that the disease is caused by the mother or both parents, who may be carriers for the genetic mutation.
Conventional Treatments for Charcot-Marie-Tooth Disease
As mentioned above, Charcot-Marie-Tooth disease cannot be cured, only managed. Treatment for CMT disease will depend on factors including the severity of symptoms, the distribution of muscle weakness, the age of onset, family history and whether or not any deformities have developed.
- Conventional treatments for Charcot-Marie-Tooth disease usually include the use of foot or leg braces, or other orthopedic devices, that can be helpful for maintaining mobility and quality of life.
- For example, orthopedic devices can help to correct foot drop and other deformities that limit functionality. Examples of orthopedics that might be used include special boots or high-top shoes, a walking stick, custom-made shoes, shoe inserts, braces or splints.
- Physical therapy and occupational therapy are also recommended to help build strength in the lower body, restore grip strength and use of the hands, and to increase overall range of motion. They may also help to decrease the need for surgery. (6)
- Sometimes orthopedic surgery will be performed to stabilize the feet and reduce pain, such as in the hips or feet, although surgery won’t be able to cure the disease, improve weakness and recover lost sensation.
- Additionally, certain patients may be prescribed medications including pain killers (like acetaminophen or nonsteroidal anti-inflammatory drugs) for musculoskeletal pain, tricyclic antidepressants to deal with emotional problems tied to coping with the disease, and, sometimes, neuropathic drugs.
Genetic counseling is now available to help determine if a couple’s offspring may be born with CMT disease. As explained in a report published in the journal Gene Reviews:
Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions … testing deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. (7)
5 Natural Tips for Managing Charcot-Marie-Tooth Disease
1. Physical Therapy
Regardless of whether someone with CMT disease uses orthopedic devices or not, physical therapy is usually recommended to build strength in the lower body and help with coordination. The earlier that someone can start physical and occupational therapies, the better the outcome usually is.
Physical therapy, which incorporates specific exercises and stretches, can prevent muscle tightening, muscle loss, cramps and stiffness. Most physical therapy programs aimed at managing Charcot-Marie-Tooth disease will include low-impact aerobic exercises, such as swimming workouts or cycling, along with strength-building exercises and stretching. All exercises will be led by a physical therapist who can monitor progress and prevent injuries.
One randomized clinical trial that tested the efficacy of strength training in patients with Charcot-Marie-Tooth disease after eight, 16 and 24 weeks found that maximum voluntary muscle contraction (MVC) was significantly increased (although gradually) in CMT disease participants over the course of the study. (8)
2. Occupational Therapy
Occupational therapy has the goal of restoring functionality and improving quality of life. An occupational therapist can help someone with CMT disease to overcome limitations due to weakness in the legs, arms or hands, lack of coordination and instability. Some of the ways that occupational therapy may help manage Charcot-Marie-Tooth disease include: (9)
- Providing equipment for everyday activities performed at home, such as showering or preparing food.
- Improving movement of the hands, coordination and grip strength.
- Improving gripping of the fingers, such as for eating, dressing, bathing, cooking, cleaning or writing.
- Helping to properly use assistive devices for everyday mobility, such as orthopedic devices that can assist with walking and climbing.
- Improving stability and coordination to help with fall prevention and reducing risk for injury
Aside from working with a physical therapist, someone with CMT disease can exercise and stretch at home to improve mobility and muscle strength. Swimming is highly recommended because it’s very low impact and doesn’t add pressure to fragile or weakened muscles. (10) Cycling/biking on a stationary bike or using an elliptical are other options. There is also no risk of falling while swimming, which can be a big concern when someone with CMT disease loses stability. Depending on someone’s condition, their doctor might recommend they walk for exercise using a walking stick in order to prevent tripping and hurting themselves.
Some clinics are also now using AlterG treadmills to help patients with CMT disease learn to walk with longer, steadier strides. These treadmills use unweighting/antigravity technology to help with physical therapy rehabilitation. AlterG treadmills can be used several times per week to safely and gradually improve strength, balance and extension. (11)
Stretching regularly is important for maintaining flexibility, loosening stiff muscles, preventing injuries, and taking care of the joints. Stretching might also help reduce joint deformities that can result over time from muscles pulling on certain bones.
Check with your doctor and/or physical therapist first before starting any exercise program.
4. Natural Pain-killers
Some people with CMT disease will experience pain in their feet or legs, cramps and other discomfort caused by nerve damage. Doctors will sometimes prescribe pain medication to help control these symptoms, but there are also ways you can try managing your pain naturally. Ways you can help manage pain naturally include (always check with your health care provider first):
- Applying essential oils such as peppermint oil over the painful area
- Taking warm baths or sitting in a sauna
- Gently stretching
- Trying light massage therapy (deep tissue massage is not recommended; check with your health care provider first)
5. Nutrient-Dense Diet
No specific diet has been shown to help cure or treat CMT disease. However, a healthy diet will help to keep inflammation levels low and therefore can be beneficial for managing symptoms. Eating an inflammatory diet, which can sometimes lead to health problems such as diabetes, may worsen Charcot-Marie-Tooth disease symptoms and make complications worse. Below are tips for eating an anti-inflammatory, healing diet:
- Eat plenty of high-fiber foods, especially fruits, veggies, nuts and seeds.
- Avoid foods with added sugar, artificial ingredients and synthetic chemicals.
- Incorporate high-antioxidant foods into all meals, especially vegetables and whole fruits. These also provide fiber, vitamins, and essential electrolytes like magnesium and potassium.
- Eat quality protein to help maintain muscle mass. This includes grass-fed beef, eggs, pasture-raised poultry and wild-caught fish. Fish provide omega-3 fatty acids that are also beneficial for your heart, help reduce diabetes risk and lower triglycerides. You can also incorporate sprouted beans/legumes, which are also high in fiber.
- Consume healthy fats such as coconut oil/coconut milk, olive oil, nuts, seeds and avocado.
- Drink plain water, tea and perhaps coffee, but cut down on sugar. Use stevia, a natural no-calorie sweetener, in place of table sugar when cooking/baking.
Certain supplements have also been found to help reduce CMT disease symptoms. Vitamin C and curcumin (found in turmeric) have both been shown to be helpful in some animal studies and are believed to work by reducing inflammation and alleviating unfolded protein responses. (12) You can increase your intake naturally by adding turmeric to recipes and by consuming foods high in vitamin C like berries, citrus fruits, bell peppers, papaya, kiwi and green leafy vegetables.
Precautions Regarding CMT Disease
If you notice that you or your child are experiencing symptoms like leg weakness, deformities, pain or loss of mobility then visit a doctor to discuss what may be the underlying cause. CMT disease is not the only disorder that can cause these symptoms, so you’ll need to rule out other causes. Early intervention is the best way to manage Charcot-Marie-Tooth disease, so don’t delay visiting a specialist who can help prevent deformities and pain from worsening.
Key Points About Charcot-Marie-Tooth Disease
- Charcot-Marie-Tooth disease (or CMT disease) is a spectrum of related inherited neurological disorders that affect peripheral nerves which are located outside the brain and spinal cord.
- Signs and symptoms of CMT disease can include weakness and atrophy in the legs and feet, pain in the lower body, instability, lack of coordination, falls/tripping, deformities and sensory changes.
Natural Ways to Manage CMT Disease Symptoms
- Orthotic devices or shoes
- Physical & occupational therapy
- A healthy diet
- Gentle exercise
- Natural pain killers such as essential oils
Jillian BabcockDr. AxeJanuary 19, 2018