CMT, also known as Charcot-Marie-Tooth disease, is a hereditary disorder affecting the peripheral nervous system. This neurological issue impairs muscle coordination and mobility, causing weakness and loss of sensation in the feet and lower legs, as well as the hands and forearms.
Unfortunately, there is no cure for CMT, so prevention is not possible. However, there are many treatments available to help slow down the progression of the disorder and manage its symptoms. For example, physical therapy and stretching exercises can help improve muscle strength, as can braces and other orthopedic devices.
There are also medications available to help with pain management, nerve damage repair, and to reduce inflammation. Lastly, occupational therapy can help people with CMT improve their coordination and balance, as well as learn adaptive techniques to help manage everyday tasks.
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What triggers CMT?
The exact cause of Charcot-Marie-Tooth (CMT) disease is unknown, but it is likely to be genetic in origin. CMT is an inherited condition, meaning it can be passed down through generations in families, often with a combination of recessive or dominant genes.
This means that a person must have inherited a copy of the gene mutation from both parents in order to have the condition. In some cases, the cause can be a spontaneous mutation, or an alteration that occurs in the gene without being inherited.
CMT is placed into two main categories – axonal and demyelinating – based on its effects on the nerves. Axonal CMT is the most common type, affecting the axons of peripheral nerves, while demyelinating CMT affects the covering, or myelin sheath, of the peripheral nerves.
Additionally, each type of CMT can be divided into subtypes based on which gene is affected and what symptoms develop. For example, CMT1 is the most common form, caused by a mutation of the PMP22 gene, affecting the myelin sheath of the nerves.
CMTX is an X-linked form of the disease and is caused by mutations in the connexin 32 gene.
When do CMT symptoms start?
CMT (Charcot-Marie- Tooth) symptoms typically begin to appear between early childhood and late adulthood. Early signs of CMT typically involve problems with balance and coordination as nerve damage begins to affect nerves in the feet and lower legs.
As the disease progresses, tingling, burning and weakness in the hands and feet can become increasingly more noticeable, and muscles may begin to atrophy. CMT can also cause clawed toes, foot drop (inability to lift your foot upwards without help) and a high-stepped gait.
As the disease progresses, symptoms may begin to affect other areas of the body, including the arms and face. People with CMT may also experience a reduced rate of sweating and poorer ability to sense temperature changes.
What can make CMT worse?
CMT (Charcot–Marie–Tooth disease) is a genetic disorder in which the body’s peripheral nerves become damaged, resulting in the progressive degeneration of muscles in the hands, feet, and lower legs. While there is no known cure for CMT, treatments focus on preserving muscle strength and preventing further nerve damage.
Factors that can potentially make CMT worse include repetitive trauma to the feet, ankles, or lower legs; high levels of physical activity; infection; poor nutrition; and excessive weight gain. Repetitive trauma can damage nerves and cause nerve inflammation, which can be especially detrimental to individuals with CMT.
High levels of physical activity can exacerbate symptom severity, as can infection and poor nutrition. Excessive weight gain can put added stress on the ankles or legs, leading to further nerve damage.
It is important for people with CMT to avoid activities that place excessive strain on their feet and ankles, maintain a balanced diet and healthy weight, and to seek medical care quickly in the event of any signs of infection or inflammation.
Treatment with physical therapy and assistive devices, such as braces and splints, can help to reduce strain on affected areas and slow the progression of nerve damage.
Can CMT occur spontaneously?
Yes, CMT (Charcot-Marie-Tooth Disease) can occur spontaneously. This means that the individual can acquire the disorder even if no one else in the family has it. CMT is an inherited peripheral nerve disorder that is passed down through families.
This means that it is possible for mutations in certain genes to cause CMT despite the fact that there is no family history of the disorder. When a spontaneous mutation occurs, the child inherits the disorder without the gene being passed down from a parent.
Most cases of CMT are inherited, but some cases occur spontaneously because of a mutation in a gene responsible for producing a protein needed for healthy nerve function. Usually, the mutation that causes spontaneous CMT occurs when the individual is in their teens or early adulthood.
While the causes and symptoms of CMT can vary, the most common symptoms include impaired coordination, weakness and/or numbness in the feet and legs, muscle wasting, and difficulty walking. CMT can also cause changes to the shape of the feet, such as high arches and hammertoes, and can cause pain and loss of sensation.
How do you slow down CMT?
The best way to slow down CMT (Chronic Motor Axonal Neuropathy) is to start by identifying and eliminating potential triggers, such as infectious agents, toxic exposures, or other underlying medical conditions.
Additionally, managing muscle weakness and reducing fatigue can help to slow the progression of CMT. As CMT weakens muscles, physical therapy can be an important part of helping to slow down the disease.
This includes strengthening exercises, as well as gait training and balance exercises to work on keeping good posture.
Depending on the severity of the disease and individual needs, medications are sometimes prescribed to help to control the symptoms of CMT. For example, drugs that act on nerve conduction or the immune system may be beneficial.
Additionally, use of assistive devices can be beneficial for some patients, as well as using braces or splints for certain muscle groups.
Nutrition is also a very important part of helping to slow down the effects of CMT. It’s important to maintain a healthy weight, as CMT weakens muscles, and excess weight can add to the strain that muscles are already under.
Eating a balanced diet and making sure to get adequate amounts of essential minerals and vitamins is important as well.
Making lifestyle changes can also help reduce the progression of CMT. It’s important to adequately rest and to avoid over-exertion, since CMT causes fatigue. Try to get adequate amounts of sleep, as this can help to restore and regenerate muscles.
Additionally, quitting smoking, avoiding alcohol, and reducing stress can also be beneficial.
What can be mistaken for CMT?
Charcot-Marie-Tooth (CMT) Syndrome is a type of peripheral neuropathy, which is a disorder that affects the peripheral nerves that connect the brain and spinal cord to the rest of the body. It is usually mistaken for a number of other conditions, including pinched nerves in the neck and back, carpal tunnel syndrome, fibromyalgia, and multiple sclerosis (MS).
Other conditions that can be confused with CMT include ulnar neuropathy (also known as cubital tunnel syndrome) and recurrent radiculopathy. All of these conditions can cause similar symptoms such as numbness, tingling, burning sensations, and weakness in the affected nerves, but they all have different root causes.
For example, carpal tunnel syndrome and ulnar neuropathy generally occur due to nerve compression due to work activities or conditions such as obesity or pregnancy.
CMT, on the other hand, is an inherited disorder, meaning it is caused by a change in a patient’s genes. In many cases, a physician may run tests to confirm the diagnosis of CMT, including genetic testing and electromyography (EMG).
The physician will also take a family history to determine if there is a history of CMT in the patient’s family. Treatment for CMT may include physical or occupational therapy, braces or splints, and medications to help with nerve pain.
Does stress make CMT worse?
It is not clear if stress directly makes CMT (Charcot-Marie-Tooth) worse. CMT is an inherited disorder of the peripheral nerves, which affects the feet, legs, hands, and arms. It is the most common inherited neurological disorder, according to the Charcot-Marie-Tooth Association.
Though research has not established that stress causes CMT to worsen, it is clear that stress can have an impact on the symptoms of CMT. Stress can affect the way one copes with chronic pain, and can lead to feelings of depression and anxiety, as well as worsening fatigue.
Stress can also increase muscle tension in people with CMT, leading to increased pain and stiffness. Conversely, relaxation techniques such as yoga, Tai Chi, and massage can be beneficial for people with CMT, promoting muscle relaxation and reducing overall levels of stress and anxiety.
In conclusion, while no conclusive evidence has shown that stress directly contributes to make CMT worse, it is clear that stress can have an impact on the symptoms of CMT. Therefore, it is important to manage stress levels in order to maintain a good quality of life and decreased levels of pain.
Can CMT stop progressing?
It is possible for CMT to stop progressing, although the course of the disease can vary widely with some individuals having slower progression than others. The progression of CMT can be slowed by controlling other medical conditions, such as diabetes, any physical trauma, and vascular abnormalities as well as taking steps such as wearing appropriate foot protective gear and using physical and occupational therapy to minimize muscle degeneration.
Genetic factors like mutations on the GJB1 gene or the PMP22 gene may have a key role in how fast CMT progresses. For those whose CMT progression is due to genetic factors, there is currently no known cure.
However, many medications, including Vitamin B6, muscle relaxants, topical analgesics, topical steroids and other topical treatments can reduce pain and improve muscle function. Additionally, physical and occupational therapy can help with symptom management and maintaining quality of life and lifestyle changes can improve overall health and help manage neuropathy associated with CMT.
What is the most severe form of CMT?
Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neurological disorders and is divided into two major categories, CMT1 and CMT2. CMT1 is the most common and is further divided into five subtypes.
The disease affects the peripheral nerves, leading to muscle weakness and loss of sensation, primarily in the lower legs and feet.
The most severe form of CMT is CMTX, which is an X-linked form of the disease. It is caused by mutations in the GJB1 gene and results in severe disability. This form of CMT is typically more severe than the other forms, leading to severe muscle weakness, atrophy of the feet, legs and hands, loss of deep-tendon reflexes, sensory loss, foot deformities, and fast progression of the disease.
Those with CMTX typically experience a greater degree of disability than those with other forms of CMT. Currently, there is no cure for CMTX and the prognosis is poor, although physical therapy and other measures may help improve quality of life and mobility.
How fast does CMT progress?
The progression of CMT (Charcot-Marie-Tooth disease) is unique to each individual who is affected. Generally, CMT progresses slowly, and the progression rate can vary in different people and even among the same person over time.
Factors that contribute to progression may include the type and severity of the disorder, the individual’s age when symptoms first become noticeable, overall health, and other disorders present.
The onset of symptoms is usually gradual in CMT and can begin any time from childhood to adulthood. As mentioned, the severity of symptoms can also vary from mild to severe in different individuals. For example, some people may first experience tingling or numbness in the feet, or gradual muscle weakness in affected areas.
Over time, the muscle weakening can cause the affected individual to experience significant challenges with walking, balance, and coordination.
In more advanced stages, CMT may cause further muscle weakening, loss of reflexes, frequent tripping and/or falling, foot deformities, and difficulty with activities such as lifting, bending, and hugging.
Severe bowing of the lower legs may also occur, as well as changes in sensitivity to both hot and cold.
CMT should be carefully monitored by a medical professional in order to assess progression and determine appropriate treatments. The overall goal is to manage symptoms of CMT so that individuals can maintain their best quality of life.
Does CMT always get worse?
No, CMT does not always get worse. While it is incurable and progressive, the rate of progression varies from person to person. Some people may experience periods of stability, where little to no progression of symptoms occurs.
For those whose CMT does get worse, the progression can be slow, or it may be rapid—for example, in some cases of severe CMT, the rate of disease progression can be fast enough to cause a noticeable decline in muscle strength within a few months.
At present, the cause of CMT is unknown, so it is difficult to say why the progression of the disease varies from person to person. There are a variety of treatments available to help manage symptoms, and some of these can help slow the progression of CMT.
Additionally, there are research studies currently underway which aim to better understand the cause of CMT, and subsequently potentially slow or even stop its progression.
Do people with CMT remain active?
Yes, people with CMT (Charcot-Marie-Tooth disease) can remain active. CMT is a neurological disorder that affects the peripheral nerves, but with the help of physical therapy, adaptive equipment, and lifestyle modifications, those with CMT can still remain active and lead a fulfilling life.
Physical activity can be beneficial for those with CMT, as it helps to build up strength, coordination, and endurance. Physical therapists who are knowledgeable and certified in CMT can work with patients to design a personalized fitness plan, focusing on range of motion, strength, balance, and coordination.
Additionally, some adaptive exercise equipment can help those with CMT, such as pedal exercisers that are mostly stationary bikes. Some modifications, such as a stationary wheelchair, can also be made to help with daily activities.
Finally, lifestyle modifications, such as medical and lifestyle management and preventative foot care, can help those with CMT to remain active. Some lifestyle modifications, such as wearing comfortable and supportive footwear, often make all the difference in staying active.
With the help of these therapies, equipment, and modifications, people with CMT can remain active and lead a full and enjoyable life.
Can people with CMT build muscle?
Yes, people with CMT can build muscle. It may take some extra effort and modifications to their training regime and diet, however. Muscle weakness and muscle wasting is a common symptom of CMT and is caused by the disease affecting the nerve endings and leading to poor communication with muscle fibers.
To combat this, muscles must be overloaded and trained more intensely. It is important to start slowly, as CMT nerve damage can sometimes make exercises painful. For example, performing fewer repetitions with greater weight can help provide even more strength and muscle-building opportunities, while also minimizing potential discomfort.
In addition, a diet high in proteins, complex carbohydrates and healthy fats is highly beneficial to helping develop muscle endurance and strength. It is important to keep your muscles supple and work on a full range of mobility exercises.
Through all of these methods people with CMT can increase their strength and build muscle.
