Salla disease

Salla disease, also known as Finnish type sialuria, is a rare autosomal recessive disease that primarily affects the central nervous system. It is considered the mildest form of free sialic acid storage disorder.

Neurological symptoms related to this rare disease are usually seen in the first months of life. The first symptoms are muscular hypotonia, ataxia and delayed motor development. Nystagmus and epilepsy can also be seen. It eventually leads to significant intellectual disability.

Salla disease is caused by mutations in the SLC17A5 gene 3. Mutations in the same gene also lead to infantile sialic acid storage disease, the most severe form of free sialic acid storage disorder.

Hypomyelination (including the U-fibers) with global cerebral volume loss is usually seen 4.

It was first described by Pertti Aula et al. in 1979 and named after Salla, a small municipality of Finland 5.

There is no specific treatment. It mainly consists of supportive care. There is only a mild reduction in life expectancy 3.

Share article

Article information

rID: 58947
Synonyms or Alternate Spellings:
  • Finnish type sialuria

Support Radiopaedia and see fewer ads

Updating… Please wait.

 Unable to process the form. Check for errors and try again.

 Thank you for updating your details.