Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Salla disease


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.

Symptoms

Newline Maker

What are the signs and symptoms of Salla disease?

Salla disease is the mildest form of the free sialic acid storage disorders. The specific symptoms and severity of the disorder can vary from one individual to another.[1] Affected infants typically appear normal at birth but usually develop poor muscle tone (hypotonia) during the first year of life. Other signs and symptoms may include rapid, involuntary eye movements (nystagmus); difficulty coordinating movements (ataxia); seizures; muscle spasticity; developmental delays; and intellectual disability. In some cases, individuals may not develop neurological signs and symptoms until later in childhood.[2] Affected individuals usually have some degree of speech impairment, however, the ability to speak is typically impaired more than the ability to understand speech. Some affected infants may learn to speak or walk, but may lose these abilities as they age. Individuals may experience a gradual coarsening of certain facial features.[1][2]
Last updated: 10/17/2011

References
  1. Free Sialic Acid Storage Disorders. NORD. April 28, 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1235/viewAbstract. 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.


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.