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Charcot-Marie-Tooth is one of the most common inherited nerve-related disorders. Defects in at least 14 genes cause different forms of this disease. The disease involves damage to the covering (myelin sheath) around nerve fibers. In some, the dise...
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Diagnosis of CMT begins with a careful neurological exam to determine the extent and distribution of weakness. A thorough family history should be taken at this time to determine if other people in the family are affected. Testing may also be perf...
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Children with CMT have an increased risk for passing on the genes that cause the condition when they start a family of their own. CMT1A and 1B, HNPP, and all of the subtypes of CMT2 have autosomal dominant inheritance. Autosomal refers to the firs...
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CMT is caused by changes (mutations) in any one of a number of genes that carry the instructions to make the peripheral nerves. Genes contain the instructions for how the body grows and develops before and after a person is born. There are probabl...
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CMT is caused by changes (mutations) in any one of a number of genes that carry the instructions to make the peripheral nerves. Genes contain the instructions for how the body grows and develops before and after a person is born. There are probabl...
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Mutations in several genes cause the various types of CMT to occur. The most common form of the disorder, CMT1A, is caused by duplication in the peripheral myelin protein 22 (PMP22) gene. In these cases, the PMP22 gene is too active from the extra...
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Detailed information on single gene defects and patterns of inheritance
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Detailed information on single gene defects and patterns of inheritance
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