Roussy Lévy Syndrome

Roussy Lévy Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Roussy Lévy Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Charcot-Marie-Tooth Disease (Variant)
  • Charcot-Marie-Tooth-Roussy-Levy Disease
  • Hereditary Areflexic Dystasia
  • Hereditary Motor Sensory Neuropathy
  • Hereditary Motor Sensory Neuropathy I
  • HMSN I

Disorder Subdivisions

  • None

General Discussion

Roussy-Lévy Syndrome, also known as hereditary areflexic dystasia, is a rare genetic neuromuscular disorder that typically becomes apparent during early childhood. The disorder is characterized by incoordination, poor judgment of movements (sensory ataxia), and absence of reflexes (areflexia) of the lower legs and, eventually, the hands; weakness and degeneration (atrophy) of muscles of the lower legs; abnormally high arches of the feet with increased extension of the toes (pes cavus or "clawfoot"); and tremors of the hands. Many affected individuals also have an abnormal front-to-back and sideways curvature of the spine (kyphoscoliosis). In individuals with Roussy-Lévy Syndrome, there is a failed communication of certain nerve signals to muscles of the lower legs (denervation). Roussy-Levy Syndrome is inherited as an autosomal dominant genetic trait.

Symptoms

Symptoms of Roussy-Lévy Syndrome are similar to other hereditary motor sensory neuropathies in that there is weakness and atrophy of the leg muscles with some loss of feeling. People with this syndrome have difficulty walking and a lack of reflexes and deformity of the foot or feet (pes cavus). Roussy-Lévy differs, however, from other hereditary motor sensory neuropathies because of the very early onset of the disorder during childhood and its slowly progressive course. Roussy-Lévy also has as one of its characteristics a slight tremor in the hands.

Causes

Roussy-Lévy is inherited through autosomal dominant genetic transmission. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In dominant disorders, a single copy of the disease gene (received from either the mother or father) will be expressed "dominating" the other normal gene and resulting in the appearance of the disease. The risk of transmitting the disorder from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.



Scientific evidence published in 1998 indicated that Rousy Lévy Syndrome appears to be a form of Charcot Marie Tooth Disease because it is caused by a partial duplication of the same gene that causes CMT (17p11.2). (For more information, choose "CMT" as your search term in the Rare Disease Database.)

Affected Populations

Roussy-Lévy is a rare disorder that affects both sexes in equal numbers. Onset is during early childhood.

Standard Therapies

Treatment of Roussy-Lévy Syndrome may include use of braces for the foot deformity or orthopedic surgery on the feet to correct the imbalance of the affected muscles. Genetic counseling may be of benefit to patients and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Principles of Neurology 6th Ed.: Raymond D. Adams, Maurice Victor, and Allan H. Ropper, Editors; McGraw-Hill, Inc.; 1997:1345-46.



JOURNAL ARTICLES

Auer-Grumbach M, et al. Roussy-Lévy syndrome is a phenotypic variant of Charcot-Marie-Tooth syndrome associated with a duplication on chromosome 17P11.2. J. Neurol Sci.1998;154(1):72-75.



Aksu F, et al. Progressive ataxia and distal muscular atrophy-differential diagnostic considerations on Roussy-Lévy syndrome. Klin Padiatr.1986;198(2):114-18.



Imhauser G, Orthop Z. Treatment of severe concave clubfoot in neural muscular atrophy. 1984;122(6):827-34.



Lapresle J. Roussy-Lévy hereditary areflexic dysstasia, it's historical relation to Friedreich's disease, Charcot-Marie-Tooth atrophy and Dejerine-Sottas hypertrophic neuritis; the present status of the original family; the nosologic role of this entity. Rev Neurol. 1982;138(12):967-78.



Lapresal J. Morphological studies of peripheral nerves for a better understanding of Charcot-Marie-Tooth atrophy and Roussy-Lévy hereditary areflexic dysstasia. Ann Med Interne.1980;131:397-400.



FROM THE INTERNET

Online Mendelian Inheritance in Man (OMIM). Victor A. McKusick, Editor; Johns Hopkins University, Last Edit Date 6/12/98. Entry Number 180800.

Resources

Charcot-Marie-Tooth Association

PO Box 105

Glenolden, PA 19036

Tel: (610)499-9264

Fax: (610)499-9267

Tel: (800)606-2682

Email: info@charcot-marie-tooth.org

Internet: http://www.charcot-marie-tooth.org



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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