Machado-Joseph Disease

Synonyms

• Autosomal Dominant Spinocerebellar Degeneration
• Azorean Neurologic Disease
• Machado Disease
• Joseph Disease
• MJD
• Nigrospinodentatal Degeneration
• Striatonigral Degeneration, Autosomal Dominant Type
• Spinocerebellar Ataxia Type III (SCA 3)

Disorder Subdivisions

• Machado-Joseph Disease Type I (MJD-I)
• Machado-Joseph Disease Type II (MJD-II)
• Machado-Joseph Disease Type III (MJD-III)

General Discussion

Machado-Joseph Disease (MJD-III), also called spinocerebellar ataxia type III, is a rare, inherited, ataxia (lack of muscular control) affecting the central nervous system and characterized by the slow degeneration of particular areas of the brain called the hindbrain. Patients with MJD may eventually become crippled and/or paralyzed but their intellect remains intact. The onset of symptoms of MJD varies from early teens to late adulthood.

Three forms of Machado-Joseph Disease are recognized: Types MJD-I, MJD-II, and MJD-III. The differences in the types of MJD relate to the age of onset and severity. Earlier onset usually produces more severe symptoms.
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Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

International Joseph Disease Foundation, Inc.
P.O. Box 994268
Redding, CA 96099
USA
Tel: 5302464722
Fax: 5302322773
Email: MJD@ijdf.net
Internet: http://www.ijdf.net

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

Rosenberg, Roger N., M.D.
Department of Neurology and Physiology
University of Texas Southwestern Medical School
5323 Harry Hines Blvd.
Dallas, TX 75235-9036
Tel: (214)688-4800

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). 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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 5/23/2003
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