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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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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

  1. Free Sialic Acid Storage Disorders. NORD. April 28, 2010; Accessed 10/14/2011.
  2. David Adams, William A Gahl. Free Sialic Acid Storage Disorders. GeneReviews. July 3, 2008; Accessed 10/14/2011.