Salla disease

Salla disease (also referred to as Finnish-type sialuria, OMIM#604369) was first reported as a lysosomal storage disorder in a family from northern Finland.

[4] FSASD (Salla and Infantile Free Sialic Acid Storage Disease) affects males and females in equal numbers.

Higher estimated prevalence rates occur in the Salla region of Finland and other Scandinavian countries.

Individuals with Salla disease may present with nystagmus as well as hypotonia, and may have difficulty coordinating voluntary movements (ataxia), reduced muscle tone and strength, and cognitive impairment.

[citation needed] FSASD (Salla and Infantile Free Sialic Acid Storage Disease) affects males and females in equal numbers.

[citation needed] Approximately ~300 individuals with FSASD have been reported in the literature, of which the majority (> 160 cases) are of Finnish or Swedish ancestry.

Individuals with FSASD may be misdiagnosed or undiagnosed, making it difficult to determine the true frequency of the disease in the general population.

[citation needed] A diagnosis of this disorder can be made by measuring urine to look for elevated levels of free sialic acid.

Salla disease has an autosomal recessive pattern of inheritance.