Logan Steele
Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that cause nerve damage, particularly in the arms and legs. It is also known as hereditary motor and sensory neuropathy. CMT results in smaller, weaker muscles, and can cause loss of sensation, muscle contractions, and difficulty walking. Foot deformities such as high arches and hammertoes are also common. While CMT does not typically affect life expectancy, it can cause a range of symptoms, including muscle twitching, chronic pain, fatigue, and problems with muscle control and movement. The severity and specific symptoms of CMT can vary greatly from person to person, even within families.
| Characteristics | Values |
|---|---|
| Muscle Twitching | Occasional calf muscle twitching has been reported by CMT patients |
| Types | CMT1A, CMT1B, CMT2 |
| Symptoms | Muscle weakness, muscle shrinking, atrophy, foot deformities, chronic pain, fatigue, difficulty breathing, swallowing, or speaking |
| Cause | Gene mutations |
| Diagnosis | Genetic test |
| Treatment | Physical therapy, orthopedic devices, surgery, medication |
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What You'll Learn
- CMT causes muscle weakness, atrophy, and nerve damage
- CMT can cause foot deformities, including high arches and flat feet
- CMT can cause chronic pain, including neuropathic and musculoskeletal pain
- CMT can cause fatigue, with patients expending more energy on remedial tasks
- CMT can cause breathing problems and difficulties swallowing or speaking
CMT causes muscle weakness, atrophy, and nerve damage
Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that cause nerve damage, particularly in the arms and legs (peripheral nerves). It is the most common inherited neuropathy and affects the nerves connecting the brain and spinal cord to the rest of the body. CMT causes a range of sensory and motor symptoms, including muscle weakness, atrophy, and nerve damage.
The peripheral nerves send electrical signals over long distances down a long, thin part of the nerve cell called the axon. The axon is covered by myelin, which works as an insulator to help signals travel quickly and smoothly through the nerves. When the axon or myelin sheath is damaged, signals slow down, weaken, or fail to transmit properly. This disruption 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.
As a result, CMT often affects the nerves that control a person's muscles, causing muscle weakness and shrinking (atrophy). Muscle weakness from CMT usually starts in the feet and lower legs during adolescence or early adulthood, but symptoms can appear at any age. Over time, the weakness can spread to the fingers, hands, and arms. The muscles that control the feet, lower part of the legs, forearms, and hands are most affected. Usually, weakness begins in the feet and ankles and manifests as foot drop—difficulty lifting the foot at the ankle, so that the toes point downward during walking. Foot drop causes frequent tripping, and with increasing weakness and attempts at compensation, the affected person develops an abnormal gait.
In addition to muscle weakness and atrophy, CMT can cause a range of other symptoms, including numbness, tingling, pain, and foot deformities that get worse over time. Some people with CMT may also experience difficulty breathing, swallowing, or speaking if the muscles that control these functions are affected. While CMT weakens muscles and affects quality of life, it does not affect life span.
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CMT can cause foot deformities, including high arches and flat feet
Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that cause nerve damage, specifically to the nerves connecting the brain and spinal cord to the rest of the body. It is the most common inherited neuropathy and results in smaller, weaker muscles. CMT causes a range of sensory and motor symptoms, including numbness, tingling, pain, muscle weakness and atrophy, and foot deformities that get worse over time.
Foot deformities are a common symptom of CMT. The most common initial presentation of CMT is distal weakness and atrophy, which manifest as foot drop and pes cavus (high arched feet). A cavovarus foot has a high arch and is twisted downward towards the front and outward onto the lateral (outside) edge of the foot. This deformity is caused by an unequal, unbalanced weakening of the muscles that control the foot. As the disease progresses, the weakness often spreads to the hands and forearms, making tasks that require fine motor skills—like buttoning a shirt or writing—more difficult.
As some muscles around a joint weaken, others remain strong, contracting and pulling on the joint. Over time, the bones around the joint shift into abnormal positions. For example, as muscles that lift the foot at the ankle become weak, muscles that lower and curl the foot downward contract and tighten, causing the most common type of foot deformity — a shortened foot with a high arch. As the contracture gets worse, the toes can become locked in a flexed, downward position, causing frequent tripping and an abnormal gait.
A small fraction of people with CMT develop “flat feet” (pes planus), presumably because of a different pattern of muscle weakness. During walking, these deformities can cause unusual friction against the toes, heel, and ball of the foot, leading to painful abrasions, blisters, and calluses.
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CMT can cause chronic pain, including neuropathic and musculoskeletal pain
Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that cause nerve damage, particularly in the arms and legs (peripheral nerves). It is also known as hereditary motor and sensory neuropathy. CMT results in smaller, weaker muscles and can lead to loss of sensation, muscle contractions, and difficulty walking.
The pain associated with CMT can be debilitating and significantly impact an individual's quality of life. It is well-known that CMT can cause severe fatigue, with those affected expending significantly more energy on everyday tasks compared to those without the disease. The chronic pain and fatigue associated with CMT can be disabling and affect an individual's ability to perform daily activities.
While the exact symptoms of CMT can vary between individuals, the most common initial presentation is distal weakness and atrophy, often manifesting as foot drop and high arched feet (pes cavus). Over time, individuals with CMT may develop contractures or stiffened joints, leading to deformities. These deformities can cause unusual friction during walking, resulting in painful abrasions, blisters, and calluses. Additionally, the unbalanced weakening of muscles controlling the foot can lead to flat feet (pes planus), causing the foot to turn inward. This deformity can be as painful and problematic as the high arched feet associated with CMT.
The occurrence of muscle twitching in individuals with CMT has been anecdotally reported, particularly in the calf muscles after prolonged periods of standing or walking. However, it is recommended to consult with a healthcare professional for a comprehensive evaluation and accurate determination of the underlying causes of muscle twitching.
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CMT can cause fatigue, with patients expending more energy on remedial tasks
Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that cause nerve damage, typically in the arms and legs. It is also called peripheral neuropathy, and it results in smaller, weaker muscles. CMT causes a range of sensory and motor symptoms, including numbness, tingling, pain, muscle weakness and atrophy, and foot deformities that get worse over time.
CMT often causes a great deal of fatigue, with patients expending more energy on remedial tasks. It takes far more energy to walk, stand, balance, and perform normal, everyday tasks when one has CMT. This is caused by some muscles compensating for others, performing jobs they were not designed to do. CMT patients may also experience insomnia and other sleep disorders, which can contribute to fatigue.
The fatigue caused by CMT can be mitigated in several ways. Regular exercise, even a single 15-minute walk, can provide an energy boost, and the benefits increase with more frequent physical activity. However, it is important to build up physical activity gradually to avoid pain or discomfort. Eating frequent, healthy meals and snacks throughout the day can also help maintain energy levels. Reducing stress through activities such as listening to music, reading, or spending time with friends can also improve energy levels.
While CMT can cause significant fatigue, managing this symptom through lifestyle changes such as exercise, healthy eating, and stress reduction can help improve energy levels and overall quality of life.
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CMT can cause breathing problems and difficulties swallowing or speaking
Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that cause nerve damage, specifically to the peripheral nerves outside of the brain and spinal cord. This nerve damage results in smaller, weaker muscles, loss of sensation, and muscle contractions. CMT can also cause muscle twitching, as evidenced by several first-hand accounts.
While CMT typically affects the muscles in the feet, ankles, legs, and hands, it can also impact the muscles that control breathing, swallowing, and speech. CMT can cause breathing problems, although this usually only occurs in severe cases. CMT can affect the nerves that control automatic body functions, including breathing and sweating. In rare cases, CMT can also cause difficulties with swallowing and speaking if the muscles that control these functions are affected.
As CMT progresses, muscle weakness can spread from the feet and legs to the hands and arms. This weakness can affect the muscles used for swallowing and speaking, making it difficult for individuals with CMT to perform these functions. The severity of symptoms can vary greatly from person to person, even among family members.
In addition to muscle weakness, CMT can cause contractures, or stiffened joints, which can lead to deformities in the feet and hands. These contractures occur due to the uneven weakening of muscles around a joint, causing some muscles to remain strong while others weaken. Over time, this can result in abnormal positions of the bones around the joint, which may contribute to difficulties with swallowing and speaking.
While CMT primarily affects the peripheral nerves, it can also impact the sensory and motor nerves in the arms, hands, legs, and feet. Motor nerves control muscle movements, and damage to these nerves can affect the muscles used for breathing, swallowing, and speaking. Sensory nerves send sensory information such as touch, temperature, and pain to the brain, and CMT can cause numbness or tingling in these nerves, further impacting an individual's ability to breathe, swallow, or speak.
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Frequently asked questions
CMT stands for Charcot-Marie-Tooth disease, a group of inherited disorders that cause nerve damage. It is also called hereditary motor and sensory neuropathy.
CMT can cause muscle twitching. People with CMT experience progressive muscle weakness and atrophy, which can lead to twitching. CMT also affects sensory nerves, causing numbness, tingling, and pain.
The symptoms of CMT usually begin in the feet and legs, with muscle weakness and atrophy leading to difficulties in walking and frequent tripping. Over time, symptoms may spread to the hands and arms. CMT can also cause foot deformities, such as high arches or flat feet, due to unbalanced muscle forces.
