Marinesco Sjogren Syndrome

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Marinesco Sjogren 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.

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: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
TDD: (301)565-2966
Email: NIAMSinfo@mail.nih.gov
Internet: http://www.niams.nih.gov/Health_Info

National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

Marinesco-Sjogren Syndrome Support Group
1640 Crystal View Circle
Newbury Park, CA 91320
USA
Tel: (805)499-7410
Email: mss@marinesco-sjogren.org
Internet: http://www.marinesco-sjogren.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

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

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

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