National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Marinesco-Sjögren 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.
- Garland-Moorhouse syndrome
- hereditary oligophrenic cerebello-lental degeneration
- Marinesco-Garland syndrome
Marinesco-Sjögren syndrome (MSS) is a rare genetic disorder that affects multiple organ systems of the body. Common symptoms include difficulty coordinating voluntary movements due to degeneration (atrophy) of the cerebellum (cerebellar ataxia), clouding of the lenses of the eyes (cataracts), delays in the acquisition of skills requiring the coordination of muscular and mental activity (psychomotor development), diminished muscle tone (hypotonia), and progressive muscle weakness. Many affected individuals exhibit additional physical abnormalities. Although Marinesco-Sjögren syndrome can be associated with significant disability, lifespan is often unaffected. Marinesco-Sjögren syndrome is caused by mutations of the SIL1 gene and at least one other, presently unknown, gene.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
1825 K Street NW, Suite 1200
Washington, DC 20006
National Ataxia Foundation
2600 Fernbrook Lane Suite 119
Minneapolis, MN 55447
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Marinesco-Sjogren Syndrome Support Group
1640 Crystal View Circle
Newbury Park, CA 91320
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
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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.
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Last Updated: 4/28/2010
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