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<title>Charcot-Marie-Tooth syndrome - Genes and Disease - NCBI Bookshelf</title>
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<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="Genes and Disease [Internet]" /><meta name="citation_title" content="Charcot-Marie-Tooth syndrome" /><meta name="citation_publisher" content="National Center for Biotechnology Information (US)" /><meta name="citation_date" content="1998" /><meta name="citation_author" content="National Center for Biotechnology Information (US)" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK22241/" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Charcot-Marie-Tooth syndrome" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="National Center for Biotechnology Information (US)" /><meta name="DC.Contributor" content="National Center for Biotechnology Information (US)" /><meta name="DC.Date" content="1998" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK22241/" /><meta name="description" content="Charcot-Marie-Tooth disease (CMT) is named after its three discoverers, who first noted the disease around the turn of the century. It is the most common inherited peripheral neuropathy in the world, 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. Full expression of CMT's clinical symptoms generally occurs by age 30. CMT is not a fatal disease, however, and the disorder does not affect normal life expectancy." /><meta name="og:title" content="Charcot-Marie-Tooth syndrome" /><meta name="og:type" content="book" /><meta name="og:description" content="Charcot-Marie-Tooth disease (CMT) is named after its three discoverers, who first noted the disease around the turn of the century. It is the most common inherited peripheral neuropathy in the world, 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. Full expression of CMT's clinical symptoms generally occurs by age 30. CMT is not a fatal disease, however, and the disorder does not affect normal life expectancy." /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK22241/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gnd-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gnd/charcotmarietoothsyndrome/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK22241/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} </style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script>
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<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. </p></div></div></div>
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<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK22241_"><span class="title" itemprop="name">Charcot-Marie-Tooth syndrome</span></h1></div><div class="body-content whole_rhythm" itemprop="text"><p>Charcot-Marie-Tooth disease (CMT) is named after its three discoverers, who first noted the disease around the turn of the century. It is the most common inherited peripheral neuropathy in the world, 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. Full expression of CMT's clinical symptoms generally occurs by age 30. CMT is not a fatal disease, however, and the disorder does not affect normal life expectancy.</p><p>CMT is a genetically heterogeneous disorder 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. One of the most common forms of CMT is Type 1A. The gene for Type 1A CMT maps to chromosome 17 and is thought to code for a protein (PMP22) involved in coating peripheral nerves with myelin, a fatty sheath that is important for their conductance. Other types of CMT include Type 1B, autosomal-recessive, and X-linked.</p><p>The same proteins involved in the Type 1A and Type 1B CMT are also involved in a disease called Dejerine-Sottas Syndrome (DSS), in which similar clinical symptoms are presented, but they are more severe. Research into understanding the pathogenesis of CMT, through the use of animal models for the disease, should also give insight into DSS and may lead to therapies for both diseases.
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</p><div id="charcotmarietoothsyndrome.disease-categories"><h2 id="_charcotmarietoothsyndrome_disease-categories_">Related diseases</h2><ul class="simple-list"><li class="half_rhythm"><div>
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<a href="/books/n/gnd/A59/">See other Muscle and Bone Diseases</a>
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<a href="/books/n/gnd/A75/">See other Diseases of the Nervous System</a>
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