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Machado-Joseph Disease

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Machado-Joseph Disease 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

  • 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.

Resources

WE MOVE (Worldwide Education and Awareness for Movement Disorders)
5731 Mosholu Avenue
Bronx, NY 10471
USA
Tel: (347)843-6132
Fax: (718)601-5112
Email: wemove@wemove.org
Internet: http://www.wemove.org

National Ataxia Foundation
2600 Fernbrook Lane Suite 119
Minneapolis, MN 55447
USA
Tel: (763)553-0020
Fax: (763)553-0167
Email: naf@ataxia.org
Internet: http://www.ataxia.org

International Joseph Disease Foundation, Inc.
P.O. Box 994268
Redding, CA 96099
USA
Tel: (530)246-4722
Fax: (530)232-2773
Email: mjd@ijdf.net

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/

Canadian Association for Familial Ataxias - Claude St-Jean Foundation
3800 Radisson Street Office 110
Montreal
Quebec, H1M 1X6
Canada
Tel: 5143218684
Tel: 8553218684
Email: ataxie@lacaf.org
Internet: http://www.lacaf.org

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

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 (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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:  5/23/2008
Copyright  1986, 1989, 1990, 1993, 1994, 1996, 1997, 2003 National Organization for Rare Disorders, Inc.

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