Similar Diseases
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Results for Query ‹ Sialuria symptoms ›
Sialuria – Abstract
Sialuria is a condition where there is increased sialic acid in the urine.
Types include:
- Salla disease ("Finnish type sialuria")
- "French type sialuria" (), associated with "GNE"
Salla disease – Characteristics
Individuals with Salla disease may present with nystagmus in the first months of life as well as hypotonia, reduced muscle tone and strength, and cognitive impairment. The most severely impaired children do not walk or acquire language, but the typical patient learns to walk and speak and has normal life expectancy. The MRI shows arrested or delayed myelination.
Salla disease – Abstract
Salla disease (SD), also called sialic acid storage disease or Finnish type sialuria, is an autosomal recessive lysosomal storage disease characterized by early physical impairment and mental retardation. It was first described in 1979, after Salla, a municipality in Finnish Lapland. Salla disease is one of 40 Finnish heritage diseases and affects approximately 130 individuals, mainly from Finland and Sweden.