Roussy Levy syndrome

Title

Other Names:

Roussy Levy hereditary areflexic dystasia; Roussy-Levy disease; Hereditary areflexic dystasia; Roussy Levy hereditary areflexic dystasia; Roussy-Levy disease; Hereditary areflexic dystasia; Charcot-Marie-Tooth Disease (Variant); Charcot-Marie-Tooth-Roussy-Levy Disease; Hereditary Motor Sensory Neuropathy I; HMSN I See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

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

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Decreased nerve conduction velocity	90%
Gait disturbance	90%
Abnormality of the immune system	-
Areflexia	-
Autosomal dominant inheritance	-
Decreased number of peripheral myelinated nerve fibers	-
Distal amyotrophy	-
Distal muscle weakness	-
Distal sensory impairment	-
Gait ataxia	-
Hammertoe	-
Hypertrophic nerve changes	-
Hyporeflexia	-
Juvenile onset	-
Kyphoscoliosis	-
Motor delay	-
Onion bulb formation	-
Pes cavus	-
Segmental peripheral demyelination/remyelination	-
Slow progression	-
Upper limb postural tremor	-

Last updated: 9/1/2016

Diagnosis Diagnosis

Genetic testing for Roussy Levy syndrome (RLS) is available. RLS is one of the many different types of Charcot-Marie-Tooth disease (CMT). The genetics of the CMT disorders is complex. Once the different forms of CMT were classifed largely based upon their signs and symptoms. Now we know that alterations in the same gene can cause more than one type of CMT, and that a single type of CMT can be caused by alterations in more than one gene.

RLS is caused by alterations in the MPZ or the PMP22 genes.^[6] Alterations in these genes can also cause other forms of CMT (Charcot-Marie-Tooth type 1 and 2, Dejerine–Sottas neuropathy, hereditary neuropathy with liability to pressure palsies, and congenital hypomyelinating neuropathy).^[7] A variety of other gene alterations have been implicated in other types of CMT (for example, CMT1 can also be caused by MP22, LITAF, EGR2, and NEFL gene alterations).^[8]

We strongly recommend that you speak with your healthcare provider to discuss questions regarding your past testing result, and to learn if additional genetic testing would be informative for you. You may wish to speak with your provider regarding a referral to a genetics professional. Genetic professionals are a source of information for individuals and families regarding CMT testing. More information about genetic consultations is available from Genetics Home Reference at http://ghr.nlm.nih.gov/handbook/consult. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
The American College of Medical Genetics has a searchable database of US genetics clinics.
The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.

To view a list of laboratories that offer genetic testing of MPZ Click Here; for laboratories offering testing for PMP22 Click Here.

Last updated: 4/26/2013

Treatment Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are studying or have studied Roussy Levy syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Charcot-Marie-Tooth Association
2700 Chestnut Street
Chester, PA 19013-4867
Toll-free: 800-606-2682
Telephone: 610-499-9264
Fax: 610-499-9267
E-mail: info@charcot-marie-tooth.org
Website: http://www.charcot-marie-tooth.org/
Charcot-Marie-Tooth Association of Australia
Website: http://www.cmt.org.au/
CMT United Kingdom
PO Box 5089
Christchurch, Dorset BH23 7ZX
United Kingdom
Toll-free: 0800.6526312
Telephone: 01202 .481161
E-mail: secretary@cmt.org.uk
Website: http://www.cmt.org.uk
Hereditary Neuropathy Foundation Inc.
1751 2nd Avenue, Suite 103
New York, NY 10128
Toll-free: 877-463-1287
Telephone: 212-722-8396
E-mail: info@hnf-cure.org
Website: http://www.hnf-cure.org/
The Neuropathy Association
110 W. 40th
Suite #1804
New York, NY 10018
Telephone: 212-692-0662
Fax: 212-692-0668
E-mail: info@neuropathy.org
Website: http://www.neuropathy.org

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

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.

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.

Related Diseases Related Diseases

The following diseases are related to Roussy Levy syndrome. If you have a question about any of these diseases, you can contact GARD.

Charcot-Marie-Tooth disease

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

Is there a DNA test for Roussy-Levy syndrome? I had a CMT DNA test several years ago that came up negative. Is this the same test for Roussy Levy syndrome? Also will trichloroethylene cause this type of peripheral neuropathy? See answer

Have a question? Contact a GARD Information Specialist.

References References

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). 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;
Roussy-Levy hereditary areflexic dystasia. Online Mendelian Inheritance in Man. April 19, 2012; http://omim.org/entry/180800. Accessed 4/26/2013.
Szigeti K, Lupski JR. Charcot-Marie-Tooth disease. European Journal of Human Genetics. 2009;17:703-710; http://www.nature.com/ejhg/journal/v17/n6/abs/ejhg200931a.html. Accessed 4/26/2013.
MPZ. Genetics Home Reference. January 2010; http://ghr.nlm.nih.gov/gene/MPZ. Accessed 4/26/2013.