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Genetic and Rare Diseases Information Center (GARD)

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Sialidosis type I


Other Names for this Disease
  • Cherry red spot myoclonus syndrome
  • Myoclonus cherry red spot syndrome
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Overview


Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I is the less severe form of this condition. People with this condition typically develop signs and symptoms of sialidosis in their teens or twenties.[1] Characteristic features may include sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings.[2] Sialidosis type I is caused by mutations in the NEU1 gene. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. The condition is inherited in an autosomal recessive pattern. It does not affect intelligence or life expectancy.[1]
Last updated: 11/3/2010

References

  1. Sialidosis. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/sialidosis. Accessed 11/3/2010.
  2. Meikle PJ. Sialidosis. National Organization for Rare Disorders (NORD). 2010; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Sialidosis. Accessed 11/3/2010.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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 Sialidosis type I. Click on the link to view a sample search on this topic.