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

This disease is grouped under:

Charcot-Marie-Tooth disease

Summary Summary

Roussy Levy syndrome is a term used to describe a neuromuscular disorder that typically becomes apparent during early childhood. This syndrome is considered 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: 2/9/2017

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Areflexia	Absent tendon reflexes	0001284
Decreased motor nerve conduction velocity		0003431
Decreased number of peripheral myelinated nerve fibers		0003380
Distal amyotrophy	Distal muscle wasting	0003693
Gait disturbance	Abnormal gait Abnormal walk Impaired gait [ more ]	0001288
Hypertrophic nerve changes		0003382
Hyporeflexia	Decreased reflex response Decreased reflexes [ more ]	0001265
Percent of people who have these symptoms is not available through HPO
Abnormality of the immune system	Immunological abnormality	0002715
Autosomal dominant inheritance		0000006
Distal muscle weakness	Weakness of outermost muscles	0002460
Distal sensory impairment	Decreased sensation in extremities	0002936
Gait ataxia	Inability to coordinate movements when walking	0002066
Hammertoe	Hammer toe Hammertoes [ more ]	0001765
Juvenile onset	Signs and symptoms begin before 15 years of age	0003621
Kyphoscoliosis		0002751
Motor delay		0001270
Onion bulb formation		0003383
Pes cavus	High-arched foot	0001761
Segmental peripheral demyelination/remyelination		0003481
Slow progression	Signs and symptoms worsen slowly with time	0003677
Upper limb postural tremor		0007351

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2020

Do you have updated information on this disease? We want to hear from you.

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

There is a lack of published information regarding the treatment for this condition specifically; however, as Roussy Levy syndrome is considered a form of Charcot-Marie-Tooth (CMT) disease resembling CMT type 1, the symptoms may be managed in a similar manner.^[6] While there is no cure for CMT1, treatment is specific to the signs and symptoms present in each individual and may include:^[9]^[10]

Special shoes, including those with good ankle support and ankle/foot orthoses (AFOs) to correct foot drop and aid walking
Orthopedic surgery to correct severe pes cavus (high arches)
Forearm crutches or canes for walking stability
Serial night casting to help increase ankle flexibility
Acetaminophen or nonsteroidal anti-inflammatory agents for musculoskeletal pain
Antidepressants or anti seizure medications such as carbamazepine or gabapentin for neuropathic pain
Beta blockers or primidone for tremors
Physical therapy and occupational therapy
Exercise within each individual's capability

Additionally, there are certain medications that are potentially toxic to people with CMT as they may worsen CMT symptoms.^[10] The Charcot-Marie-Tooth Association (CMTA), an organization supporting CMT, maintains an updated list of medications that present varying risks for worsening CMT neuropathy. Click here to view their list.

Last updated: 2/9/2017

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare 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 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.

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 related to Roussy Levy syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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
PO Box 105
Glenolden, PA 19036
Toll-free: 1-800-606-2682
Telephone: +1-610-499-9264
Fax: +1-610-499-9267
E-mail: info@cmtusa.org
Website: https://www.cmtausa.org/
Charcot-Marie-Tooth Association Australia Inc.
Building 22
Concord Hospital
Concord, NSW, 2139 Australia
Telephone: (02) 9767 5105
E-mail: cmtaa2@cmt.org.au
Website: https://www.cmt.org.au
Charcot-Marie-Tooth UK (CMT UK)
3 Groveley Road
Christchurch, Dorset BH23 3HB
United Kingdom
Telephone: 0300 323 6316
E-mail: enquiries@cmt.org.uk
Website: https://www.cmt.org.uk/
Hereditary Neuropathy Foundation Inc.
401 Park Avenue, 10th Floor
New York, NY 10016
Toll-free: 1-855-435-7268
Telephone: +1-212-722-8396
Fax: +1-917-591-2758
E-mail: info@hnf-cure.org
Website: https://www.hnf-cure.org/

Do you know of an organization? We want to hear from you.

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

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.
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.

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). 2012; http://www.ncbi.nlm.nih.gov/omim/180800.
Roussy Levy Syndrome. National Organization for Rare Disorders (NORD). 2004; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/785/viewAbstract.
Kleigman. Chapter 612 - Hereditary Motor-Sensory Neuropathies. Nelson Textbook of Pediatrics, 18th edition. Saunders, An Imprint of Elsevier; 2007;
McKusick VA. Roussy-Levy hereditary areflexic dystasia. Online Mendelian Inheritance in Man. April 19, 2012; http://omim.org/entry/180800.
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.
Cruse RP. Hereditary primary motor sensory neuropathies, including Charcot-Marie-Tooth disease. UpToDate. April 13, 2016; http://www.uptodate.com/contents/hereditary-primary-motor-sensory-neuropathies-including-charcot-marie-tooth-disease.
Bird TD. Charcot-Marie-Tooth Neuropathy Type 1. GeneReviews. March 26, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1205/.