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Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder that affects the peripheral nerves responsible for transmitting signals between the brain, spinal cord, and the rest of the body. CMT often affects the nerves that control a person's muscles, causing muscle weakness or atrophy (shrinkage). While CMT does not affect life expectancy, it can significantly impact a person's quality of life. The severity of symptoms can vary widely between individuals, even among members of the same family.
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What You'll Learn
CMT causes muscle weakness, atrophy and joint pain
Charcot-Marie-Tooth disease (CMT) is a group of disorders that cause damage to the peripheral nerves—the nerves that transmit information and signals from the brain and spinal cord to and from the rest of the body. CMT often affects nerves that control a person's muscles, causing muscle weakness or muscle shrinking (called atrophy). CMT can also cause joint pain and deformities.
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. Some people with CMT may not even know they have it, while others experience physical disabilities. The muscles that control the feet, lower part of the legs, forearms, and hands are most affected. CMT often causes finger contractures (clawed hands), toe contractures, and foot deformities such as hammertoes and high arches.
Many patients with CMT eventually develop contractures (stiffened joints) that result in deformities of the feet and hands. The contractures occur because 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 the muscles that lift the foot at the ankle become weak, the muscles that lower and curl the foot downward contract and tighten, causing a shortened foot with a high arch. As the contracture gets worse, the toes can become locked in a flexed position.
CMT can cause severe chronic pain, which can be debilitating. This pain can be musculoskeletal (joint pain) or neuropathic. CMT can also cause issues with bones, joints, or muscles, such as mild scoliosis or an abnormal formation of the hip joint. In rare cases, CMT can cause breathing difficulties if the nerves that control the diaphragm muscles are affected.
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CMT affects nerves that control muscles
Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder that affects the peripheral nerves responsible for transmitting signals between the brain, spinal cord, and the rest of the body. CMT often affects the nerves that control a person's muscles, causing muscle weakness or muscle shrinking (atrophy). The motor nerves are how the brain controls the muscles of the body. The sensory nerves send sensory information, such as touch, temperature, and pain, to the brain. CMT can impact each of these and rarely affects all three types of nerves.
Motor symptoms of CMT include muscle weakness, loss of muscle mass (muscle atrophy), decreased or no reflexes, hammertoes, foot drop, and frequent trips and falls due to gait disorders and changes in how the muscles in the legs and feet work. The muscles that control the feet, lower legs, forearms, and hands are most affected. Usually, weakness begins in the feet and ankles and manifests as foot drop, making it difficult to lift the foot at the ankle, causing the toes to point downward during walking. Over time, the weakness can spread to the fingers, hands, and arms.
The sensory symptoms of CMT include numbness or tingling, an inability to feel heat or pain sensations in the lower legs, feet, and hands, creeping sensations in the legs, chronic pain, and loss or decrease in other senses, especially vision and hearing. CMT can also cause neuropathic pain, musculoskeletal pain, or both. CMT often causes a great deal of fatigue, with those affected expending three times more energy to perform remedial tasks than those without CMT.
The symptoms of CMT vary greatly from person to person, even among family members with the same gene mutation. Symptoms usually appear in adolescence or early adulthood but may also develop in childhood or midlife. CMT is caused by mutations in over 100 different genes, which disrupt the function of nerve cells' axons, which are responsible for transmitting signals.
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CMT is an inherited neurological disorder
Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder that affects the peripheral nerves responsible for transmitting signals between the brain, spinal cord, and the rest of the body. This is the most common inherited neuropathy, causing sensory and motor symptoms. CMT is caused by mutations in over 100 different genes, which disrupt the function of nerve cells' axons, which are responsible for transmitting signals. The severity of symptoms can vary greatly from person to person, even among family members. Symptoms usually begin in the feet and legs, but they may eventually affect your hands and arms.
The motor nerves are how the brain controls the muscles of the body. The sensory nerves send sensory information, such as touch, temperature, and pain, to the brain. CMT can impact each of these and rarely affects all three types of nerves. The most common initial presentation of CMT is distal weakness and atrophy, which manifest with foot drop and pes cavus (high arched feet). Many patients with CMT eventually develop contractures (stiffened joints) that result in deformities of the feet and hands. The contractures occur because as some muscles around a joint weaken, others remain strong, contracting and pulling on the joint.
The symptoms of CMT often appear in childhood and adolescence, but in some cases, they may not develop until adulthood. CMT is not a dangerous condition, except with specific subtypes of this disease that are very severe. Most people with CMT will develop problems with moving or using certain senses, but these rarely affect how long they live. With the help of special devices and other kinds of care, especially foot and ankle devices or footwear, most people with CMT can still have a normal lifespan and live happy, fulfilling lives.
CMT often affects nerves that control a person's muscles, causing muscle weakness or muscle shrinking (called atrophy). Muscle weakness from CMT usually starts in the feet and lower legs during the teen years or early adulthood, but symptoms can appear at any age. Over time, the weakness can spread to the fingers, hands, and arms. Some people with CMT may not even know they have it, while others experience physical disabilities. There is no cure for CMT, but treatments such as physical therapy, orthopedic devices (such as braces), surgery, and medication prescribed by a doctor can help manage symptoms.
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CMT affects the feet and legs first
Charcot-Marie-Tooth disease (CMT) is a group of inherited disorders that cause nerve damage, specifically to the peripheral nerves. These nerves transmit information and signals from the brain and spinal cord to and from the rest of the body. CMT is also called hereditary motor and sensory neuropathy.
As CMT progresses, symptoms may spread from the feet and legs to the hands and arms. The severity of symptoms varies greatly from person to person, even among family members. Some people with CMT may need foot or leg braces or other supportive equipment to stay mobile. CMT is not a fatal disease, and most people with it live to a normal age and remain active.
CMT is caused by mutations in the genes that affect the nerves in the feet, legs, hands, and arms. These mutations can damage the nerves or the protective coating that surrounds them (the myelin sheath). CMT1, the most common type, happens when a gene that is important for making the myelin sheath is duplicated, producing too much of the protein PMP22. CMT4 is a rare and severe form that has a profound impact on peripheral nerves. CMTX is the second most common form, caused by mutations in genes on the X chromosome that make proteins in the myelin sheath.
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CMT can be treated with physical therapy
Charcot-Marie-Tooth disease (CMT) is a group of conditions that affect the peripheral nerves, which are the nerves outside of the brain and spinal cord. CMT can cause damage to these nerves, leading to problems with muscle control and sensation, particularly in the feet and hands. While there is currently no cure for CMT, treatments such as physical therapy can help manage symptoms and maintain quality of life.
Physical therapy is an important part of CMT management as it can help individuals with CMT maintain mobility, flexibility, and muscle strength. Starting physical therapy soon after symptoms begin can be beneficial in slowing down the progression of the disease and helping individuals maintain their independence and quality of life. CMT can affect an individual's ability to perform daily tasks and physical activities, so physical therapy can help improve their overall functional mobility and ability to perform activities of daily living.
Physical therapy for CMT typically involves a range of exercises tailored to the specific needs of the individual. These exercises may include stretching and range-of-motion exercises to improve flexibility and prevent muscle contractures. Strengthening exercises may also be prescribed to target specific muscle groups and improve overall muscle strength and endurance. Additionally, aerobic exercises may be recommended to improve cardiovascular health and endurance, as CMT can impact an individual's ability to perform physical activities.
In addition to these exercises, physical therapists may also incorporate balance and gait training, as CMT can affect an individual's ability to walk and maintain their balance. They may also provide education on the proper use of assistive devices such as braces, walkers, or canes, and teach individuals how to adapt their movements to compensate for any physical limitations they may have due to CMT. Furthermore, physical therapists can provide individuals with CMT with guidance on appropriate footwear, as CMT can cause changes in foot shape and structure.
Overall, physical therapy plays a crucial role in helping individuals with CMT manage their symptoms and maintain their physical function and independence. By working closely with a physical therapist, individuals with CMT can develop a tailored treatment plan that addresses their specific needs and helps them achieve their rehabilitation goals.
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Frequently asked questions
CMT stands for Charcot-Marie-Tooth disease, an inherited neurological disorder that affects peripheral nerves responsible for transmitting signals between the brain, spinal cord, and the rest of the body.
The symptoms of CMT include muscle weakness or atrophy, loss of sensation, reduced reflexes, foot drop, tremors, and problems with hearing and vision. Symptoms usually begin in the feet and legs and may eventually affect the hands and arms.
While there is no cure for CMT, 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 genes that affect the nerves in the feet, legs, hands, and arms. These mutations can damage the nerves and disrupt the transmission of signals between the brain and the rest of the body.
Yes, muscle weakness is a common symptom of CMT, often starting in the feet and lower legs and spreading to the fingers, hands, and arms over time. However, the severity and progression of symptoms can vary widely between individuals.
