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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
More Names
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Roussy Levy syndrome is an 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.[1][2][3][4]  The disease usually begins in infancy and is benign until adolescence. It is characterized by severe alterations in nerve conduction and sensory dysfunction.[1] 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).[3] Treatment is symptomatic and supportive.[5]
Last updated: 5/25/2011


  1. Canale & Beaty. Hereditary Motor and Sensory Neuropathies. Campbell's Operative Orthopaedics, 11th edition. Mosby, An Imprint of Elsevier; 2007;
  2. Charcot-Marie-Tooth disease. Genetics Home Reference (GHR). 2010; Accessed 5/25/2011.
  3. Roussy-Levy Hereditary Areflexic Dystasia. Online Mendelian Inheritance in Man (OMIM). 2003; Accessed 5/25/2011.
  4. Roussy Levy Syndrome. National Organization for Rare Disorders (NORD). 2004; . Accessed 5/25/2011.
  5. Kleigman. Chapter 612 - Hereditary Motor-Sensory Neuropathies. Nelson Textbook of Pediatrics, 18th edition. Saunders, An Imprint of Elsevier; 2007;
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Basic Information

  • 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.