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Marinesco-Sjögren Syndrome

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to William R. Wilcox, MD, PhD, Medical Genetics Institute, Cedars-Sinai Medical Center; Professor of Pediatrics, UCLA School of Medicine, for assistance in the preparation of this report.

Synonyms of Marinesco-Sjögren Syndrome

  • Garland-Moorhouse syndrome
  • hereditary oligophrenic cerebello-lental degeneration
  • Marinesco-Garland syndrome
  • MSS

Disorder Subdivisions

  • No subdivisions found.

General Discussion

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.

Organizations related to Marinesco-Sjögren Syndrome

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