BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuCharcot-Marie-Tooth diseaseProgressive neuropathic (peroneal) muscular atrophy; Hereditary peroneal nerve dysfunction; Neuropathy - peroneal (hereditary); Hereditary motor and sensory neuropathyCharcot-Marie-Tooth disease is a group of disorders passed down through families that affect the nerves outside the brain and spine. These are called the peripheral nerves. Causes Charcot-Marie-Tooth is one of the most common nerve-related disorders passed down through families (inherited). Changes to any of at least 40 genes can cause different forms of this disease.The disease leads to damage or destruction to the covering (myelin sheath) around nerve fibers.MyelinMyelin is an insulating layer, or sheath that forms around nerves, including those in the brain and spinal cord. It is made up of protein and fatty ...ImageRead Article Now Book Mark Article Symptoms Nerves that stimulate movement (called the motor nerves) are most severely affected. The nerves in the legs are affected first and most severely.Symptoms most often begin between mid-childhood and early adulthood. They may include:Foot deformity (very high arch to feet) Foot drop (inability to point foot upward to hold it horizontal) Loss of lower leg muscle, which leads to skinny calves Numbness in the foot or leg "Slapping" gait (feet hit the floor hard when walking) Weakness of the hips, legs, or feet WeaknessWeakness is reduced strength in one or more muscles.Read Article Now Book Mark Article Later, similar symptoms may appear in the arms and hands. These may include a claw-like hand. Exams and Tests A physical exam may show:Difficulty lifting up the foot and making toe-out movements (foot drop) Lack of stretch reflexes in the legs Loss of muscle control and atrophy (shrinking of the muscles) in the foot or leg Thickened nerve bundles under the skin of the legs Nerve conduction tests are often done to identify different forms of the disorder. A nerve biopsy may confirm the diagnosis.Genetic testing is also available for most forms of the disease. Treatment There is no known cure. Orthopedic surgery or equipment (such as braces or orthopedic shoes) may make it easier to walk.Physical and occupational therapy may help maintain muscle strength and improve independent functioning. Outlook (Prognosis) Charcot-Marie-Tooth disease slowly gets worse. Some parts of the body may become numb, and pain can range from mild to severe. Eventually the disease may cause disability. Possible Complications Complications may include:Progressive inability to walk Progressive weakness Injury to areas of the body that have decreased sensation When to Contact a Medical Professional Contact your health care provider if there is ongoing weakness or decreased sensation in the feet or legs. Prevention Genetic counseling and testing is advised if there is a strong family history of the disorder.Open ReferencesReferencesKatirji B. Disorders of the peripheral nerves. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff's Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 106.Sarnat HB. Hereditary motor-sensory neuropathies. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 631.AllVideoImagesTogCentral nervous system and peripheral nervous system - illustration The central nervous system comprises the brain and spinal cord. The peripheral nervous system includes nerves outside the brain and spinal cord.Central nervous system and peripheral nervous systemillustrationCentral nervous system and peripheral nervous system - illustration The central nervous system comprises the brain and spinal cord. The peripheral nervous system includes nerves outside the brain and spinal cord.Central nervous system and peripheral nervous systemillustration Tests for Charcot-Marie-Tooth disease Nerve conduction velocityRelated Information Numbness and tingling(Symptoms)Muscle atrophy(Symptoms)Myelin(Special Topic)Autosomal dominant(Special Topic)Autosomal recessive(Special Topic)Sex-linked recessive(Special Topic) Review Date: 9/18/2023 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. 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Charcot-Marie-Tooth diseaseProgressive neuropathic (peroneal) muscular atrophy; Hereditary peroneal nerve dysfunction; Neuropathy - peroneal (hereditary); Hereditary motor and sensory neuropathyCharcot-Marie-Tooth disease is a group of disorders passed down through families that affect the nerves outside the brain and spine. These are called the peripheral nerves. Causes Charcot-Marie-Tooth is one of the most common nerve-related disorders passed down through families (inherited). Changes to any of at least 40 genes can cause different forms of this disease.The disease leads to damage or destruction to the covering (myelin sheath) around nerve fibers.MyelinMyelin is an insulating layer, or sheath that forms around nerves, including those in the brain and spinal cord. It is made up of protein and fatty ...ImageRead Article Now Book Mark Article Symptoms Nerves that stimulate movement (called the motor nerves) are most severely affected. The nerves in the legs are affected first and most severely.Symptoms most often begin between mid-childhood and early adulthood. They may include:Foot deformity (very high arch to feet) Foot drop (inability to point foot upward to hold it horizontal) Loss of lower leg muscle, which leads to skinny calves Numbness in the foot or leg "Slapping" gait (feet hit the floor hard when walking) Weakness of the hips, legs, or feet WeaknessWeakness is reduced strength in one or more muscles.Read Article Now Book Mark Article Later, similar symptoms may appear in the arms and hands. These may include a claw-like hand. Exams and Tests A physical exam may show:Difficulty lifting up the foot and making toe-out movements (foot drop) Lack of stretch reflexes in the legs Loss of muscle control and atrophy (shrinking of the muscles) in the foot or leg Thickened nerve bundles under the skin of the legs Nerve conduction tests are often done to identify different forms of the disorder. A nerve biopsy may confirm the diagnosis.Genetic testing is also available for most forms of the disease. Treatment There is no known cure. Orthopedic surgery or equipment (such as braces or orthopedic shoes) may make it easier to walk.Physical and occupational therapy may help maintain muscle strength and improve independent functioning. Outlook (Prognosis) Charcot-Marie-Tooth disease slowly gets worse. Some parts of the body may become numb, and pain can range from mild to severe. Eventually the disease may cause disability. Possible Complications Complications may include:Progressive inability to walk Progressive weakness Injury to areas of the body that have decreased sensation When to Contact a Medical Professional Contact your health care provider if there is ongoing weakness or decreased sensation in the feet or legs. Prevention Genetic counseling and testing is advised if there is a strong family history of the disorder.Open ReferencesReferencesKatirji B. Disorders of the peripheral nerves. In: Jankovic J, Mazziotta JC, Pomeroy SL, Newman NJ, eds. Bradley and Daroff's Neurology in Clinical Practice. 8th ed. Philadelphia, PA: Elsevier; 2022:chap 106.Sarnat HB. Hereditary motor-sensory neuropathies. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 631.