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Genetic and Rare Diseases Information Center (GARD)

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Satoyoshi syndrome


Other Names for this Disease
  • Komuragaeri Disease
  • Muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities
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Overview


Satoyoshi syndrome is a rare condition characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, amenorrhea, alopecia universalis, short stature, and skeletal abnormalities. Progressive painful intermittent muscle spasms usually start between 6 to 15 years of age. Alopecia universalis also appears around age 10. About half of affected individuals experience malabsorption, specifically of carbohydrates. The skeletal abnormalities may be secondary to muscle spasms. The main endocrine disorder is primary amenorrhea. All cases have apparently been sporadic, even when occurring in large families. The exact cause is unknown; but some researchers have speculated that Satoyoshi syndrome is an autoimmune disorder.[1]
Last updated: 8/2/2011

References

  1. Satoyoshi syndrome. Online Mendelian Inheritance of Man (OMIM). April 2011; http://omim.org/entry/600705. Accessed 8/2/2011.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Satoyoshi syndrome. Click on the link to view a sample search on this topic.