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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



What is Salla disease?

What are the signs and symptoms of Salla disease?


What is Salla disease?

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

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.[3] 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.[3][2]
Last updated: 10/17/2011

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.
  3. 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.