Salla

Salla is a disease that is classified as a type of lysosomal storage disease. It is also known as Salla disease or sialic acid storage disease. The disease is named after the municipality of Salla, in Finland, where it was first identified.

Salla disease is a genetic disorder that primarily affects the nervous system. It is characterized by early infantile onset of developmental delay, hypotonia (reduced muscle tone), ataxia (lack of muscle control), and seizures. The disease is caused by mutations in the SLC17A5 gene, which leads to an accumulation of free sialic acid in the lysosomes of cells.

Symptoms

The symptoms of Salla disease typically become apparent in infancy. These may include:

• Developmental delay
• Hypotonia (reduced muscle tone)
• Ataxia (lack of muscle control)
• Seizures
• Nystagmus (involuntary eye movement)
• Dysarthria (difficulty speaking)

Causes

Salla disease is caused by mutations in the SLC17A5 gene. This gene provides instructions for making a protein that is involved in the transport of sialic acid out of the lysosomes of cells. Mutations in the SLC17A5 gene disrupt this process, leading to an accumulation of free sialic acid in the lysosomes.

Diagnosis

Diagnosis of Salla disease is based on the clinical symptoms, and confirmed by genetic testing to identify mutations in the SLC17A5 gene.

Treatment

There is currently no cure for Salla disease. Treatment is supportive and aimed at managing the symptoms. This may include physiotherapy for muscle weakness, and medication to control seizures.

Epidemiology

Salla disease is most common in the Finnish population, but has been reported in other populations as well.

See also

• Lysosomal storage disease
• Genetic disorder
• SLC17A5

Salla Resources
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