Charcot-Marie-Tooth Disease (CMT)enparentshttps://kidshealth.org/EN/images/headers/Charcot-Marie-ToothDisease_enHD_1.jpgCharcot-Marie-Tooth disease (CMT) is a neurological disorder. It causes muscle weakness and numbness, most commonly in the arms and legs.hereditary motor and sensory neuropathy, neuropathy, Charcot-Marie-Tooth disease, CMT, muscle weakness, numb, numbness, nerves, neurology, inherited, muscular dystrophy, motor nerves, sensory nerves, myelin, mutations, muscle biopsy, genetic testing, physical therapy, PT, OT, occupational, creatine kinase protein, atrophy, contractures, curvature of the spine, scoliosis, peripheral nerve disorder, peripheral nerves, extremities, Charcot's joint, Charcot's disease, neuropathy11/27/201708/14/201909/02/2019Mena T. Scavina, DO03/15/20184572b78c-18df-4d25-b206-35628fbc94d3https://kidshealth.org/ws/RadyChildrens/en/parents/cmt.html/<h3>What Is Charcot-Marie-Tooth Disease (CMT)?</h3> <p>Charcot-Marie-Tooth disease (CMT) is an inherited neurological disorder. It affects the peripheral nerves (nerves outside the brain and spinal cord), causing muscle weakness and numbness.</p> <p>CMT happens because of problems with motor nerves (which control muscles) and sensory nerves (which send sensations to the brain).</p> <h3>What Are the Signs &amp; Symptoms of Charcot-Marie-Tooth Disease (CMT)?</h3> <p>There are many different types of CMT. Symptoms and the age when they begin depend on the type. In some types of CMT, babies and toddlers have weakness and muscle loss. They may:</p> <ul> <li>hold their head up, sit, crawl, stand, and walk later than most kids do</li> <li>fall more than brothers, sisters, or playmates of the same age</li> <li>have trouble grasping or holding items</li> </ul> <p>In the most common forms of Charcot (shahr-KOE)-Marie-Tooth disease, symptoms first appear in teenagers or young adults. Symptoms all relate to muscle weakness or numbness in the hands, forearms, lower legs, and feet, and include:</p> <ul> <li>cold hands and feet</li> <li>trouble buttoning clothing and holding small items such as coins</li> <li>stumbling or unsteady steps, which may look like clumsiness</li> <li>dragging the feet or toes while walking (foot drop)</li> <li>trouble going up or down steps</li> <li>shuffling or marching steps</li> <li>feet with high arches and toes that stay curled (hammertoes)</li> <li>loss of feeling in the feet or legs</li> <li>trouble with balance</li> </ul> <h3>What Causes Charcot-Marie-Tooth Disease (CMT)?</h3> <p>Sensory nerves let us feel pain, pressure, touch, temperature, body position, and other feelings. Motor nerves tell muscles to move and how fast. To send strong and fast signals over long distances, nerves have to be wrapped in insulation called myelin. If the insulation doesn't work well, the nerve can't either.</p> <p>CMT happens because of a mutation or variation (a change) in a person's <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/about-genetics.html/">gene</a> (DNA). A variation in one of the CMT-related genes can cause a problem with a protein that the body needs for nerves to work properly.</p> <p>CMT mutations cause both sensory nerves and motor nerves to lose their ability to send signals. Some CMT mutations affect the nerve cells and others affect the cells that wrap the nerve in myelin. Without motor signals, muscles get smaller and weaker. Without sensory signals, children have trouble balancing, walking, and handling small items like buttons.</p> <h3>Who Gets Charcot-Marie-Tooth Disease (CMT)?</h3> <p>Many genes can cause CMT if they don't work properly. The type of CMT depends on what gene is affected.</p> <p>Sometimes, the parents' DNA is normal and the CMT variation happens when the child's DNA is forming. This is called a new or spontaneous mutation.</p> <h3>How Is Charcot-Marie-Tooth Disease (CMT) Diagnosed?</h3> <p>Doctors will do an exam, ask about symptoms, and find out whether family members have CMT or similar symptoms.</p> <p>Tests can help make sure the problem is CMT and not something that could go away with treatment. These tests include:</p> <ul class="kh_longline_list"> <li><strong><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/genetics.html/">Genetic testing</a>: </strong>This checks the child's DNA for known CMT mutations. Knowing the kind of mutation helps doctors tell the patient and family what to expect. Family members also can be tested to see if they have the mutation.</li> <li><strong>Nerve conduction velocity (NCV) testing</strong> and <strong>electromyography (EMG): </strong>These check nerves and muscles to find the cause of weakness and see if there is peripheral neuropathy .</li> </ul> <h3>How Is Charcot-Marie-Tooth Disease (CMT) Treated?</h3> <p>There is no cure for CMT disease yet. The treatment goal is to help the child stay as active as possible. Because of the loss of feeling, avoiding injury from impact and <a href="https://kidshealth.org/ws/RadyChildrens/en/parents/safety-burns.html/">burns</a> requires extra care.</p> <p>Treatments to help children stay as active as possible include:</p> <ul class="kh_longline_list"> <li>Braces, such as ankle-foot orthoses (AFOs), to support the feet for easier walking.</li> <li>Medicines for pain relief.</li> <li><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/phys-therapy.html/">Physical therapy (PT)</a> exercises and stretching to help maintain strength and flexibility.</li> <li><a href="https://kidshealth.org/ws/RadyChildrens/en/parents/occupational-therapy.html/">Occupational therapy (OT)</a> to help with managing tasks at home, school, and work.</li> <li>Surgery to loosen tight tendons and joints (contractures).</li> </ul> <p>Doctors will also check for other problems that are rare in CMT disease, like trouble with breathing during sleep.</p> <h3>Looking Ahead</h3> <p>Often, CMT symptoms are not severe, and many treatments can help. People with CMT have a normal life expectancy, and most can walk their entire lives. <a href="https://www.cmtausa.org/index.php">Support groups</a> can help you and your child — they can connect you to other families who are managing CMT and keep you up to date on treatment research.</p>Enfermedad de Charcot-Marie-ToothLa enfermedad de Charcot-Marie-Tooth se debe a ciertos problemas que afectan a los nervios motores (que controlan los músculos) y a los nervios sensoriales (que envían sensaciones al cerebro).https://kidshealth.org/ws/RadyChildrens/es/parents/cmt-esp.html/cc649934-dcc2-4e12-a944-8e84fe91cee7
Becker Muscular DystrophyBecker muscular dystrophy is a genetic disorder that gradually makes the body's muscles weaker and smaller. It causes less severe problems than the most common type of MD, Duchenne muscular dystrophy.https://kidshealth.org/ws/RadyChildrens/en/parents/becker-md.html/2c7af52d-b255-4a80-8468-f5aba92c9c7e
Duchenne Muscular DystrophyDuchenne muscular dystrophy is the most common form of muscular dystrophy. It gradually makes the body's muscles weaker. https://kidshealth.org/ws/RadyChildrens/en/parents/duchenne-md.html/adf1f461-2bff-484c-8da8-3298ffd3d0f5
Genetic TestingAdvances in genetic testing help doctors diagnose and treat certain illnesses. The type of test done depends on which condition a doctor checks for.https://kidshealth.org/ws/RadyChildrens/en/parents/genetics.html/cbe49a95-6833-41f4-881a-c26287c4a33c
Going to an Occupational TherapistOccupational therapy helps children overcome obstacles to be as independent as possible. Learn more about OT.https://kidshealth.org/ws/RadyChildrens/en/kids/occupational-therapist.html/9ecadc70-436b-4573-a947-12df6b333021
Muscular DystrophyMuscular dystrophy is a disorder that weakens a person's muscles over time. People who have the disease can gradually lose the ability to do everyday tasks.https://kidshealth.org/ws/RadyChildrens/en/parents/muscular-dystrophy.html/470da9dd-ba4f-4a20-890d-d7e8f712a0f6
Muscular Dystrophy Factsheet (for Schools)What teachers should know about muscular dystrophy, and how to help students with MD do their best in school.https://kidshealth.org/ws/RadyChildrens/en/parents/md-factsheet.html/43a22e27-4d02-4039-981b-eb91b3615372
Occupational TherapyOccupational therapy can help improve kids' cognitive, physical, and motor skills and build their self-esteem and sense of accomplishment.https://kidshealth.org/ws/RadyChildrens/en/parents/occupational-therapy.html/e6873992-af60-4bab-82d9-3bd1fe9ad5a3
Physical TherapyPhysical therapy helps people get back to full strength and movement - and manage pain - in key parts of the body after an illness or injury.https://kidshealth.org/ws/RadyChildrens/en/teens/pt.html/d292496f-1bf8-4949-9563-f0436e185c33
kh:age-allAgesOrAgeAgnostickh:clinicalDesignation-geneticskh:genre-articlekh:primaryClinicalDesignation-neurologyBones & Muscleshttps://kidshealth.org/ws/RadyChildrens/en/parents/medical/bones/309954d5-03dd-446c-9d39-3e66eeb99f97Genetic, Chromosomal & Metabolic Conditionshttps://kidshealth.org/ws/RadyChildrens/en/parents/medical/genetic/d50d4cf8-0cb6-4a6b-8d58-1fe7996c491e