Machado-Joseph Disease Health Article

Clinical Trials

Further basic research is needed before clinical trials become a possibility for MJD. Ongoing genetic and molecular research on the mechanisms involved in the genetic mutations responsible for the disease will eventually yield enough data to provide for future development and design of experimental gene therapies and drugs specific to treat those with MJD.

Prognosis

The frequency with which such genetic mutations trigger the clinical onset of disease is known as penetrance. Machado-Joseph disease presents a 94.5% penetrance, which means that 94.5% of the mutation carriers will develop the symptoms during their lives, and less than 5% will remain free of symptoms. Because the intensity and range of symptoms are highly variable among the affected individuals, it is difficult to determine the prognosis for a given individual. As MJD progresses slowly, most patients survive until middle age or older.

BOOKS

Fenichel, Gerald M. Clinical Pediatric Neurology: A Signs and Symptoms Approach, 4th ed. Philadelphia: W. B. Saunders Company, 2001.

OTHER

National Institute of Neurological Disorders and Stroke. Machado-Joseph Disease Fact Sheet. May 5, 2003 (June 7, 2004). <http://www.ninds.nih.gov/health_and_medical/pubs/machado-joseph.htm>.

ORGANIZATIONS

Dystonia Medical Research Foundation. 1 East Wacker Drive, Suite 2430, Chicago, IL 60601-1905. (312) 755-0198; Fax: (312) 803-0138. dystonia@dystonia-foundation.org. <http://www.dystonia-foundation.org>.

International Machado-Joseph Disease Foundation, Inc. P.O. Box 994268, Redding, CA 96099-4268. (530) 246-4722. MJD@ijdf.net. <http://www.ijdf.net>.

National Ataxia Foundation (NAF). 2600 Fernbrook Lane, Suite 119, Minneapolis, MN 55447-4752. (763) 553-0020; Fax: (763) 553-0167. naf@ataxia.org. <http://www.ataxia.org>.

National Organization for Rare Disorders (NORD). P.O. Box 1968 (55 Kenosia Avenue), Danbury, CT 06813-1968. (203) 744-0100 or (800) 999-NORD (6673); Fax: (203) 798-2291. orphan@rarediseases.org. <http://www.rarediseases.org>.

Worldwide Education & Awareness for Movement Disorders (WE MOVE). 204 West 84th Street, New York, NY 10024. (212) 875-8312 or (800) 437-MOV2 (6682); Fax: (212) 875-8389. wemove@wemove.org. <http://www.wemove.org>.

Sandra Galeotti