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Other Names for this Disease
- Sialuria, Finnish type
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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. Treatment is generally symptomatic and supportive.Salla disease is the mildest form of the
Last updated: 10/14/2011
- Sialic acid storage disease. Genetics Home Reference. February 2008; http://ghr.nlm.nih.gov/condition/sialic-acid-storage-disease. Accessed 10/14/2011.
- 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.
- Genetics Home Reference (GHR) contains information on Salla disease. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Salla disease. Click on the link to go to OMIM and review these resources.
- 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.