Charcot-Marie-Tooth disease type 1E
Other Names for this Disease
- CMT 1E
- Charcot-Marie-Tooth disease, demyelinating, Type 1E
- Charcot-Marie-Tooth disease and deafness
- Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant
- Charcot Marie Tooth disease type 1E
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peripheral nerves. Signs and symptoms of CMT1E generally become apparent between age 5 and 25 years, although the age of onset and disease severity can vary significantly from person to person. In general, CMT1E is associated with the typical features of Charcot-Marie-Tooth disease type 1 (progressive weakness of the feet and/or ankles; foot drop; atrophy of muscles below the knee; absent tendon reflexes of upper and lower extremities; and a decreased sensitivity to touch, heat, and cold in the feet and/or lower legs) in addition to hearing loss. CMT1E is caused by certain changes (mutations) in the PMP22 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.Charcot-Marie-Tooth disease type 1E (CMT1E) is a form of Charcot-Marie-Tooth disease, which is a group of rare conditions that affect the
Last updated: 2/18/2016
- Bird TD. Charcot-Marie-Tooth Neuropathy Type 1. GeneReviews. March 2015; http://www.ncbi.nlm.nih.gov/books/NBK1205/.
- CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS. OMIM. January 2012; http://www.omim.org/entry/118300.
- Divakara Kedlaya, MBBS. Charcot-Marie-Tooth Disease. Medscape Reference. November 2014; http://emedicine.medscape.com/article/1232386-overview.
- Genetics Home Reference (GHR) contains information on Charcot-Marie-Tooth disease type 1E. This website is maintained by the National Library of Medicine.
- Mayo Clinic has an information page on Charcot-Marie-Tooth disease type 1E.
- Muscular Dystrophy Association has information and resources about Charcot-Marie-Tooth disease type 1E. Please click on the link to access this resource.
- The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
- The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Charcot-Marie-Tooth disease type 1E. Click on the link to view a sample search on this topic.