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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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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


  1. Sialidosis. Genetics Home Reference (GHR). 2010; Accessed 11/3/2010.
  2. Meikle PJ. Sialidosis. National Organization for Rare Disorders (NORD). 2010; Accessed 11/3/2010.
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  • 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. 
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