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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Salla disease


Other Names for this Disease

  • SD
  • Sialuria, Finnish type
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Overview

Salla disease is the mildest form of the free sialic acid storage disorders, which primarily affect the nervous system. Infants with Salla disease typically begin to experience poor muscle tone (hypotonia) during the first year of life, followed by slowly progressive neurological problems. Signs and symptoms include intellectual disability and developmental delay; seizures; ataxia; muscle spasticity; and involuntary slow movements of the limbs (athetosis). About one-third of affected children learn to walk. It is caused by mutations in the SLC17A5 gene and is inherited in an autosomal recessive manner.[1][2] Treatment is generally symptomatic and supportive.
Last updated: 10/14/2011

References

  1. Sialic acid storage disease. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition/sialic-acid-storage-disease. Accessed 10/14/2011.
  2. David Adams, William A Gahl. Free Sialic Acid Storage Disorders. GeneReviews. July 3, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1470/. Accessed 10/14/2011.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a 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. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Salla disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • SD
  • Sialuria, Finnish type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.