Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Roussy Levy syndrome


Other Names for this Disease
  • Roussy Levy hereditary areflexic dystasia
  • Roussy-Levy disease
  • Hereditary areflexic dystasia
  • Charcot-Marie-Tooth Disease (Variant)
  • Charcot-Marie-Tooth-Roussy-Levy Disease
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Roussy Levy syndrome is a rare genetic neuromuscular disorder that typically becomes apparent during early childhood. This syndrome is a form of Charcot-Marie-Tooth (CMT) disease. Individuals with this disorder have clinical symptoms similar to Charcot-Marie-Tooth (CMT) disease type 1, which is characterized by muscle weakness and atrophy, poor judgement of movement (sensory ataxia), absent reflexes (areflexia) of the lower legs and hands, and abnormally high arches of the feet (pes cavus or "clawfoot"). Additional features of rhythmic shaking (static tremor) in the hands and an unsteady gait (gait ataxia) are specific to Roussy Levy syndrome.[1][2][3][4] This disorder is caused by issues with nerve conduction and sensory dysfunction.[1] Roussy Levy syndrome may result from a duplication of the PMP22 gene (which is also associated with CMT1A) or a mutation in the myelin protein zero (MPZ) gene (mutations in this gene are also associated with CMT1B).[3] Roussy Levy syndrome is inherited in an autosomal dominant manner.[2][4] Treatment is based on the signs and symptoms present in each person.[5]
Last updated: 1/3/2016

References

  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). December, 2015; http://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease.
  3. Roussy-Levy Hereditary Areflexic Dystasia. Online Mendelian Inheritance in Man (OMIM). 2003; http://www.ncbi.nlm.nih.gov/omim/180800. Accessed 5/25/2011.
  4. 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.
  5. Kleigman. Chapter 612 - Hereditary Motor-Sensory Neuropathies. Nelson Textbook of Pediatrics, 18th edition. Saunders, An Imprint of Elsevier; 2007;
GARD Video Tutorials
GARD Video Tutorials
Learn how to find information on treatment, research, specialists, and more.
Your Questions Answered
Your Questions Answered
View questions about this condition answered by GARD Information Specialists. You can also submit a new question.

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 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 Roussy Levy syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Roussy Levy hereditary areflexic dystasia
  • Roussy-Levy disease
  • Hereditary areflexic dystasia
  • Charcot-Marie-Tooth Disease (Variant)
  • Charcot-Marie-Tooth-Roussy-Levy Disease
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.