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Roussy Levy syndrome
Other Names for this Disease
- Charcot-Marie-Tooth Disease (Variant)
- Charcot-Marie-Tooth-Roussy-Levy Disease
- Hereditary areflexic dystasia
- Hereditary Motor Sensory Neuropathy I
- HMSN I
autosomal dominant disease with the clinical characteristics of Charcot-Marie-Tooth (CMT) disease type 1 plus a static tremor in the hands and gait ataxia. The disease usually begins in infancy and is benign until adolescence. It is characterized by severe alterations in nerve conduction and sensory dysfunction. Roussy Levy syndrome may result from the classic CMT1A PMP22 duplication or a heterozygous mutation in the myelin protein zero (MPZ) gene (mutations in this gene are also associated with CMT1B). Treatment is symptomatic and supportive.Roussy Levy syndrome is an
Last updated: 5/25/2011
- Canale & Beaty. Hereditary Motor and Sensory Neuropathies. Campbell's Operative Orthopaedics, 11th edition. Mosby, An Imprint of Elsevier; 2007;
- Charcot-Marie-Tooth disease. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease. Accessed 5/25/2011.
- Roussy-Levy Hereditary Areflexic Dystasia. Online Mendelian Inheritance in Man (OMIM). 2003; http://www.ncbi.nlm.nih.gov/omim/180800. Accessed 5/25/2011.
- Roussy Levy Syndrome. National Organization for Rare Disorders (NORD). 2004; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/785/viewAbstract . Accessed 5/25/2011.
- Kleigman. Chapter 612 - Hereditary Motor-Sensory Neuropathies. Nelson Textbook of Pediatrics, 18th edition. Saunders, An Imprint of Elsevier; 2007;
- Genetics Home Reference (GHR) contains information on Roussy Levy syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an 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 Roussy Levy syndrome. Click on the link to view a sample search on this topic.