Marinesco Sjogren Syndrome

Synonyms

• Marinesco-Garland Syndrome
• Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism
• Marinesco-Sjogren Syndrome-Myopathy
• Marinesco-Sjogren Syndrome-Neuropathy
• Marinesco-Sjogren-Garland Syndrome
• Moravcsik-Marinesco-Sjogren Syndrome
• Myopathy-Marinesco-Sjogren Syndrome

Disorder Subdivisions

• None

General Discussion

Marinesco-Sjogren syndrome (MSS) is a rare disorder that is inherited as an autosomal recessive genetic condition. The major features of this disorder are a loss of muscle coordination as a result of an affect on the cerebellum (cerebellar ataxia), cloudiness of the eyes' lenses (cataracts), increased muscle tension (spasticity), progressive muscle weakness, short stature, and mental deficits.
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Resources

National Scoliosis Foundation
5 Cabot Place
Stoughton, MA 02072
Tel: (781)341-6333
Fax: (781)341-8333
Tel: (800)673-6922
Email: nsf@scoliosis.org
Internet: http://www.scoliosis.org

NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
1 AMS Circle
Bethesda, MD 20892-3675
USA
Tel: 3014954484
Fax: 3017186366
Tel: 8772264267
TDD: 3015652966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov

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/

Marinesco-Sjogren Syndrome Support Group
1640 Crystal View Circle
Newbury Park, CA 91320
USA
Tel: 8054997410
Email: mss@marinesco-sjogren.org
Internet: http://www.marinesco-sjogren.org

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: 3/25/2004
Copyright 1992, 1995, 2004 National Organization for Rare Disorders, Inc.