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
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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. This disorder is caused by issues with nerve conduction and sensory dysfunction. 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). Roussy Levy syndrome is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.Roussy Levy syndrome is a rare genetic neuromuscular disorder that typically becomes apparent during early childhood. This syndrome is a form of
Last updated: 1/3/2016
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- Charcot-Marie-Tooth disease. Genetics Home Reference (GHR). December, 2015; http://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease.
- 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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.