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Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that cause nerve damage, affecting the peripheral nerves outside of the brain and spinal cord. CMT is a spectrum of nerve disorders that cause progressive weakness, muscle atrophy, and loss of sensation in the hands, feet, lower legs, and forearms. CMT symptoms are caused by impairment of both sensory and motor functions in the longer nerves of the peripheral nervous system. CMT is a permanent, lifelong condition that is usually not dangerous, and most people with CMT can still have a normal lifespan.
| Characteristics | Values |
|---|---|
| Common name | Charcot-Marie-Tooth disease |
| Acronym | CMT |
| Type of disease | A group of inherited disorders that cause nerve damage |
| Nerve type affected | Peripheral nerves |
| Prevalence | Approximately 19 instances per 100,000 people |
| Symptoms | Smaller, weaker muscles; loss of sensation; muscle contractions; difficulty walking; foot deformities; numbness; tingling; pain; involuntary grinding of teeth; squinting; gastrointestinal problems; difficulty chewing, swallowing, and speaking; muscle atrophy; tremors; etc. |
| Treatments | Physical therapy; orthopedic devices; surgery; medication; assistive devices; etc. |
| Cause | Genetic mutations |
| Genetic inheritance | Autosomal dominant; autosomal recessive; X-linked |
| Onset | Symptoms usually appear in adolescence or early adulthood, but may develop in childhood or midlife |
| Severity | CMT is usually not life-threatening, but can cause physical disabilities. The degree of disability varies among individuals. |
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What You'll Learn
CMT is an inherited neurological disorder
Charcot-Marie-Tooth disease (CMT) is a spectrum of inherited neurological disorders that affect the peripheral nerves responsible for transmitting signals between the brain, spinal cord, and the rest of the body. CMT is the most common inherited neuropathy, affecting approximately one in 2,500 people. It is named after the three physicians who first described it in 1886: Jean-Martin Charcot and Pierre Marie of France, and Howard Henry Tooth of the United Kingdom.
CMT is caused by defects in the genes responsible for creating and maintaining the myelin sheath, a layer of fat and protein that encases the axons of nerve cells, increasing their conductivity. More than 30 genes have been implicated in CMT, with mutations in just four of these genes—PMP22, MPZ, GJB1, and MFN2—accounting for the vast majority of cases. CMT can be inherited in several ways: autosomal dominant, autosomal recessive, or X-linked. In rare cases, a new genetic mutation may occur during early development, resulting in CMT with no prior family history.
The symptoms of CMT typically start in the feet and legs, causing muscle weakness, atrophy, and sensory loss, before spreading to the hands and arms. CMT often affects the nerves that control a person's muscles, leading to problems with muscle control and movement. It can also impact the senses, causing numbness, tingling, pain, and a loss of sensation in the affected areas. While the disease is usually slowly progressive and not life-threatening, it can cause significant physical limitations and impact a person's quality of life.
There is currently no cure for CMT. However, treatments such as physical therapy, orthopedic devices, surgery, and medications can help manage symptoms and improve quality of life. CMT is a permanent, lifelong condition, and most people do not show symptoms until they are adults, although symptoms can appear at any age. With severe forms of the disease, muscle weakness can affect breathing and swallowing, leading to potentially deadly complications.
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CMT affects peripheral nerves
Charcot-Marie-Tooth disease (CMT) is a spectrum of inherited nerve disorders that affect the peripheral nervous system. CMT is named after the three physicians who first described it in 1886: Jean-Martin Charcot and Pierre Marie of France, and Howard Henry Tooth of the United Kingdom. CMT is caused by defects in the genes responsible for creating and maintaining the myelin sheath, the insulating layer around many nerves that increases conductivity, and the axonal structures. CMT can be inherited in several ways: autosomal dominant, autosomal recessive, or X-linked.
CMT affects the peripheral nerves, which are the nerves outside of the brain and spinal cord. CMT usually impacts longer neurons and nerve fibres, which make up the spinal cord and peripheral nerves, but not the brain. CMT can cause problems with muscle control and movement, as well as sensory issues. The symptoms of CMT typically begin in the feet and legs, with patients experiencing issues such as muscle weakness, foot deformities, and loss of sensation. As CMT progresses, symptoms may spread to the hands and arms. CMT can also lead to difficulty walking and gait disorders, causing patients to trip and fall.
The severity of CMT symptoms can vary significantly from person to person, even among family members. While CMT is usually not a dangerous condition, severe subtypes can lead to weakness in the muscles that control breathing and swallowing, resulting in respiratory failure, pneumonia, and other life-threatening issues. CMT is typically treated with physical therapy and assistive devices, such as special shoes or foot and ankle braces.
There are six main types of CMT, all caused by genetic mutations inherited from one or both parents. CMT1A is associated with childhood onset and progressive worsening of symptoms, while CMT1B can have symptom onset in infants, children, or adults. CMT2 is less common than CMT1 and affects the axon of peripheral nerve cells. CMT4 is a rare and severe form of CMT that has a profound impact on peripheral nerves and often results in the loss of walking ability by the patient's teenage years. CMTX is the second most common form, caused by mutations on the X chromosome, and typically results in muscle weakness, foot deformities, and nerve issues.
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CMT causes muscle weakness
Charcot-Marie-Tooth disease (CMT) is a spectrum of inherited neurological disorders that affect the peripheral nerves, which are the nerves outside of the brain and spinal cord. CMT is the most common inherited neuropathy, affecting approximately 1 in 2,500 people. It causes both sensory and motor symptoms, including numbness, tingling, weakness, muscle atrophy, pain, and progressive foot deformities. CMT is caused by mutations in genes, which disrupt the function of nerve cells' axons, the long, thin part of the nerve cell that transmits electrical signals.
The peripheral nerves affected by CMT send electrical signals through the axon, which is covered by a protective coating called the myelin sheath. When the axon or myelin sheath is damaged, signals slow down, weaken, or fail to transmit properly. This damage makes it harder for nerves to control muscles or send sensory information from the skin, muscles, or other organs back to the spinal cord and the brain. CMT can affect the axon, the myelin sheath, or both, depending on the specific gene problem.
The most common early sign of CMT is difficulty walking due to weakness in the muscles of the lower legs and feet. As the disease progresses, the weakness often spreads to the hands and forearms, making tasks requiring fine motor skills, such as buttoning a shirt or writing, more difficult. This progressive weakness can lead to significant physical limitations and disabilities for some individuals with CMT.
While CMT is not typically life-threatening, it can cause a reduced quality of life due to the muscle weakness and associated symptoms. Treatments such as physical therapy, orthopedic devices, surgery, and medication can help manage symptoms and improve quality of life.
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CMT affects muscle control
Charcot-Marie-Tooth disease (CMT) is a spectrum of inherited neurological disorders that affect the peripheral nerves responsible for transmitting signals between the brain, spinal cord, and the rest of the body. CMT is the most common inherited neuropathy, affecting around 1 in 2,500 people. It is named after the three physicians who first described it in 1886: Jean-Martin Charcot and Pierre Marie of France, and Howard Henry Tooth of the United Kingdom.
The symptoms of CMT usually start in the feet and legs, with muscle weakness and atrophy leading to difficulty walking and a high-stepping gait. As the disease progresses, the weakness often spreads to the hands and forearms, causing difficulty with tasks requiring fine motor skills, such as buttoning a shirt or writing. CMT can also cause a loss of sensation in the affected areas, affecting the ability to feel pain, temperature, or touch, and leading to balance issues.
While CMT is typically slowly progressive and not life-threatening, it can significantly impact an individual's quality of life. Treatments such as physical therapy, orthopedic devices, surgery, and medication can help manage symptoms and improve quality of life. CMT is caused by mutations in over 100 different genes, and the severity and progression of symptoms can vary widely between individuals, even within the same family.
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CMT is not life-threatening
Charcot-Marie-Tooth disease (CMT) is a spectrum of nerve disorders named after the three physicians who first described it in 1886: Jean-Martin Charcot and Pierre Marie of France, and Howard Henry Tooth of the United Kingdom. The term "CMT" is regarded as being synonymous with hereditary motor sensory neuropathy (HMSN). CMT is a group of inherited conditions that cause nerve damage, leading to muscle weakness and numbness. It is caused by defects in the genes responsible for creating and maintaining the myelin (insulating sheath around many nerves, increasing conductivity) and axonal structures. CMT usually affects muscle control and how individuals feel their feet and hands. It can also cause problems with movement and how senses work. CMT is not life-threatening and is not considered a dangerous condition. However, it can affect an individual's quality of life.
CMT symptoms usually start in early teenage years but can begin earlier during childhood or later during middle age. The symptoms appear and develop slowly and get progressively worse over time. CMT is a permanent, lifelong condition, and individuals are born with it, but most people do not show its symptoms until they are adults. CMT causes muscle weakness and reduction in size (atrophy), and some loss of sensation in the lower legs and feet. Sometimes, the hands, wrists, and forearms are affected as well. Foot deformities such as hammertoes and high arches are also common.
The neurons in the body are not all the same length or size. The longest neurons are those that reach down the spine to the legs and feet. These neurons bundle together and form nerve fibres, which are most likely to show the early effects of CMT. Similar effects can occur in the arms and hands, but this usually happens later in the disease. CMT can affect the nerves other than those that go to and from the extremities. If the nerves that go to and from the diaphragm or intercostal (between the ribs) muscles are affected, respiratory impairment can result.
CMT is a progressive condition, meaning the symptoms slowly get worse, making everyday tasks increasingly difficult. However, CMT rarely affects how long individuals live. With the help of special devices and other types of care, especially foot and ankle devices or footwear, people with CMT can still have a normal lifespan and live happy, fulfilling lives. CMT is caused by an inherited fault in one of the many genes responsible for the development of the peripheral nerves. This fault causes the nerves to become damaged over time. CMT can be inherited in several ways: autosomal dominant (through a faulty gene contributed by either parent); autosomal recessive (through a faulty gene contributed by each parent); or X-linked (through a gene on the X chromosome contributed by either parent).
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Frequently asked questions
CMT is a spectrum of inherited nerve disorders that affect the peripheral nerves (nerves outside of the brain and spinal cord) responsible for transmitting signals between the brain, spinal cord, and the rest of the body. CMT results in smaller, weaker muscles and loss of sensation. It is named after the three physicians who first described it in 1886: Jean-Martin Charcot and Pierre Marie of France, and Howard Henry Tooth of the United Kingdom.
CMT symptoms include muscle weakness, muscle atrophy, and loss of sensation in the hands, feet, lower legs, and forearms. It can also cause foot deformities, difficulty walking, and balance issues. While some individuals experience minimal symptoms, others may face significant physical limitations. Symptoms usually start in adolescence or early adulthood, but they can appear earlier in childhood or later in middle age.
There is currently no cure for CMT. However, treatments such as physical therapy, orthopedic devices, surgery, and medications can help manage symptoms and improve quality of life.
