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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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Your QuestionWhat is sialidosis type I? How might this condition be treated?
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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. Characteristic features may include sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings. 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.
Last updated: 11/3/2010
There is no specific treatment for sialidosis. Management should be multidisciplinary and directed at supportive care and symptomatic relief. Overall health maintenance should be a priority, with seizure control as necessary. Myoclonic seizures often respond poorly to treatment with anticonvulsant medications.
Last updated: 11/3/2010
- Sialidosis. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/sialidosis. Accessed 11/3/2010.
- Meikle PJ. Sialidosis. National Organization for Rare Disorders (NORD). 2010; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Sialidosis. Accessed 11/3/2010.
- Roth KS, Rizzo WB, McGovern MM. Sialidosis (Mucolipidosis I): Treatment & Medication. eMedicine. 2010; http://emedicine.medscape.com/article/948704-treatment. Accessed 11/3/2010.
- Maire I, Froissart R. Sialidosis type 1. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=812. Accessed 11/3/2010.