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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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Your Question

They have diagnosed my niece with Salla disease. I understand that this is a very rare disease and that its main origin is Finland. Can you please let me know the life expectancy and quality of life we can expect? My niece is 7 years old. It has taken them 6 years to finally come up with this diagnosis.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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

How is the quality of life for individuals with Salla disease?

There is limited information available about the quality of life for individuals with Salla disease. Quality of life is likely in part determined by the specific signs and symptoms present in each individual, how severely an individual is affected, and the amount and quality of the care and support available. Affected individuals have been characterized by guardians and support staff as being generally good-humored and sociable.[2]
Last updated: 10/17/2011

What is the life expectancy for individuals with Salla disease?

Salla disease can cause life-threatening complications at any age. Life expectancy appears to be shortened, although there have been affected individuals who have lived into their seventies.[2][3]
Last updated: 10/17/2011