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Charcot-Marie-Tooth Disease |
AR-CMT2; Charcot-Marie-Tooth disease, type 1; Charcot-Marie-Tooth disease, type 2; Charcot-Marie-Tooth disease, type 4; Charcot-Marie-Tooth Disorder; congenital hypomyelination; Dejerine-Sottas syndrome; DSN; DSS; hereditary motor and sensory neuropathy; HMSN; Peroneal Muscular Atrophy; PMA; Roussy-Levy Syndrome |
Charcot-Marie-Tooth disorder (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. The first sign of CMT is generally a high arched foot or gait disturbances. Other symptoms of the disorder may include foot bone abnormalities such as high arches and hammer toes, problems with hand function and balance, occasional lower leg and forearm muscle cramping, loss of some normal reflexes, occasional partial sight and/or hearing loss, and, in some patients, scoliosis (curvature of the spine). CMT is a disorder of genetic heterogeneity, in which mutations in different genes can produce the same clinical symptoms. In CMT, there are not only different genes but different patterns of inheritance.
... Charcot-Marie-Tooth disease is a group of progressive disorders affecting peripheral nerves. These nerves connect the brain and spinal cord to muscles as well as sensory cells that detect sensations such as touch, pain, heat, and sound. The different types of Charcot-Marie-Tooth disease are distinguished by genetic cause, pattern of inheritance, and nerve abnormality.
Genetic changes are related to the following types of Charcot-Marie-Tooth disease.
The system for categorizing types of Charcot-Marie-Tooth disease is changing. Earlier systems were based largely on the pattern of inheritance and the particular abnormality that disrupts nerve function. With advances in molecular biology, new classification systems that focus on genetic causes are emerging. The genetic-based approach is gaining acceptance and is used here. Because there is not yet a universal system to classify types of Charcot-Marie-Tooth disease, the list of other names used for this disorder, found near the end of this summary, might be helpful.
The symptoms associated with Charcot-Marie-Tooth disease usually begin in adolescence or early adulthood, but onset may occur anytime from early childhood to mid-adulthood. Symptoms vary in severity; some people never realize they have the disorder, while a small percentage experience significant disability. Most people with this disorder lead active lives and have normal life expectancies.
Typically, the earliest symptoms involve muscle weakness in the feet, which can cause foot abnormalities such as high arches (pes cavus) or curled toes (hammer toes). It may become difficult to hold up the foot (foot drop) or to walk on the heel of the foot. These difficulties can increase the chance of ankle injuries and tripping and may cause a higher than normal step (or gait). As the disease progresses, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair.
Later symptoms may include muscle weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. Because signals to sensory cells can be disrupted in Charcot-Marie-Tooth disease, people with this disorder may also notice some numbness, feel pain in the feet and lower legs, or experience a decreased sensitivity to heat and cold. In rare cases, sensory loss can include gradual hearing impairment and deafness. ...
... Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine. ...
... Type 2 Charcot-Marie-Tooth disease is a progressive disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles as well as sensory cells that detect sensations such as touch, pain, heat, and sound. Type 2 is characterized by mutations in particular genes and abnormalities in the fiber, or axon, that extends from a nerve cell.
The system for categorizing types and subtypes of Charcot-Marie-Tooth disease is changing. Earlier systems were based largely on the pattern of inheritance and the particular abnormality that disrupts nerve function. With advances in molecular biology, new classification schemes that focus on genetic causes are emerging. The genetic-based approach is gaining acceptance and is used here. Because there is not yet a universal system to classify types of Charcot-Marie-Tooth disease, the list of other names used for this disorder, found near the end of the summary, might be helpful.
Charcot-Marie-Tooth disease, type 2 is a subtype of
The symptoms associated with type 2 Charcot-Marie-Tooth disease usually begin between 5 and 25 years of age but may develop anytime from infancy to after age 30. Symptoms vary in severity; some people never realize they have the disorder, while a small percentage experience significant disability. Most people with this disorder lead active lives and have normal life expectancies.
Typically, the earliest symptoms involve muscle weakness in the feet and lower legs, which can affect a person's manner of walking (or gait). Later symptoms may include hand weakness and the loss of sensation, such as the inability to perceive touch, pain, and temperature changes. (Additional information on symptoms is available in the overview summary of Charcot-Marie-Tooth disease.) ...
... Type 1 Charcot-Marie-Tooth disease is a progressive disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles as well as sensory cells that detect sensations such as touch, pain, heat, and sound. Type 1 is characterized by mutations in particular genes and abnormalities in myelin, the protective substance covering nerve cells.
The system for categorizing types and subtypes of Charcot-Marie-Tooth disease is changing. Earlier systems were based largely on the pattern of inheritance and the particular abnormality that disrupts nerve function. With advances in molecular biology, new classification schemes that focus on genetic causes are emerging. The genetic-based approach is gaining acceptance and is used here. Because there is not yet a universal system to classify types of Charcot-Marie-Tooth disease, the list of other names used for this disorder, found near the end of the summary, might be helpful.
Charcot-Marie-Tooth disease, type 1 is a subtype of
The symptoms associated with type 1 Charcot-Marie-Tooth disease usually begin between 5 and 25 years of age, but onset may occur anytime from infancy to a person's 60s or 70s. Symptoms vary in severity; some people never realize they have the disorder, while a small percentage experience significant disability. Most people with this disorder lead active lives and have normal life expectancies.
Typically, the earliest symptoms involve muscle weakness in the feet and lower legs, which can affect a person's manner of walking (or gait). Later symptoms may include hand weakness and the loss of sensation, such as the inability to perceive touch, pain, and temperature changes. In some cases, sensory loss includes hearing impairment or deafness. (Additional information on symptoms is available in the overview summary of Charcot-Marie-Tooth disease.)
A specific sign found in some individuals with type 1 Charcot-Marie-Tooth disease is nerve enlargement that can be felt or seen through the skin. These enlarged nerves are caused by abnormally thick layers of myelin, the protective substance that wraps around nerves. ...
... Type 4 Charcot-Marie-Tooth disease is a progressive disorder that affects peripheral nerves. These nerves connect the brain and spinal cord to muscles as well as sensory cells that detect sensations such as touch, pain, heat, and sound. Type 4 is characterized by mutations in particular genes and autosomal recessive inheritance, which means two copies of the gene must be altered for a person to be affected by the disorder.
The system for categorizing types and subtypes of Charcot-Marie-Tooth disease is changing. Earlier systems were based largely on the pattern of inheritance and the particular abnormality that disrupts nerve function. With advances in molecular biology, new classification schemes that focus on genetic causes are emerging. The genetic-based approach is gaining acceptance and is used here. Because there is not yet a universal system to classify types of Charcot-Marie-Tooth disease, the list of other names used for this disorder, found near the end of the summary, might be helpful.
Charcot-Marie-Tooth disease, type 4 is a subtype of
The symptoms associated with type 4 Charcot-Marie-Tooth disease usually begin during childhood, but onset may occur anytime from infancy to early adulthood. Symptoms of type 4 tend to be more severe than the symptoms of other types of this disorder. Life span can be shortened, particularly among people with subtype 4B1, who may not live beyond midlife.
Typically, the earliest symptoms involve foot abnormalities and muscle weakness in the feet and lower legs, which can affect a person's manner of walking (or gait). Later symptoms may include hand weakness, curvature of the spine (scoliosis), and the loss of sensation such as the inability to perceive touch, pain, and temperature changes. In subtype 4D, sensory loss includes hearing impairment and deafness. Some people with subtype 4B2 experience increased pressure within the eye (glaucoma) during childhood or adolescence. (Additional information on symptoms is available in the overview summary of Charcot-Marie-Tooth disease.) ...
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Charcot-Marie-Tooth Disease Symptoms1-2 of 4 more...
Signs and symptoms
... The signs and symptoms of CMT may vary from mild to severe and tend to develop slowly, sometimes appearing to stabilize spontaneously. Early signs and symptoms of CMT may include: Weakness in your low...
Source: MayoClinic
Causes ... CMT disease is a general term for a group of inherited diseases involving a defective gene (mutation). The cause of each form of CMT is a mutation particular to that type of the disease. Genes produce...
Source: MayoClinic
Charcot-Marie-Tooth Disease Treatment1-2 of 3 more...
Complications
... Complications of CMT vary in severity from person to person, with foot abnormalities and difficulty walking generally being the most serious problems. Muscle weakness may increase, and injury to areas...
Source: MayoClinic
Treatment ... There''s no cure for CMT. However, some treatments can help you manage its signs and symptoms, including: Physical therapy. Physical therapy for CMT involves muscle strengthening and stretching to pre...
Source: MayoClinic
Charcot-Marie-Tooth Disease Support1 of 1
Coping skills
... Support groups can be valuable in dealing with CMT. They bring together people, family and friends who are coping with the same kind of physical or mental health challenge. Support groups provide a se...
Source: MayoClinic
Charcot-Marie-Tooth Disease Other1-2 of 10 more...
Charcot-Marie-Tooth Disorder
... What is Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The di...
Source: Cleveland Clinic
Overview ... Charcot-Marie-Tooth (CMT) disease broadly includes a group of progressive hereditary disorders that cause nerve damage (neuropathy). The damage in CMT occurs to your peripheral nerves or to the insula...
Source: MayoClinic
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Charcot-Marie-Tooth Disease Articles
- Charcot-Marie-Tooth disease
... Charcot-Marie-Tooth disease is a group of progressive disorders affecting peripheral nerves. These nerves connect the brain and spinal cord to muscles as well as sensory cells that detect sensations s... - Charcot-Marie-Tooth Disorder Fact Sheet
... Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders, affecting approximately 1 in 2,500 people in the United States. The disease is named for the three physici... - Charcot-Marie-Tooth Disorder Information Page
... Charcot-Marie-Tooth disorder (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of ... - Peripheral Neuropathy Fact Sheet
... Peripheral neuropathy describes damage to the peripheral nervous system, the vast communications network that transmits information from the brain and spinal cord (the central nervous system) to every...
Resources
- Ask the Experts: Charcot-Marie-Tooth Disease (CMT) (Muscular Dystrophy Association)
- Bracing Experiences: Correct Braces Can Improve Mobility, Life (Muscular Dystrophy Association)
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