Salla Disease

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Salla Disease is a rare inherited lysosomal storage disorder caused by defective transport of sialic acid (a type of sugar molecule) out of the lysosome. Named after the municipality in Finnish Lapland where it was first described, Salla disease represents the milder end of the free sialic acid storage disease spectrum, with infantile free sialic acid storage disease (ISSD) being the severe form.

Salla disease typically presents in the first year of life with hypotonia (decreased muscle tone), motor delay, and nystagmus (involuntary eye movements). Affected individuals gradually develop intellectual disability, ataxia (uncoordinated movements), and spasticity. Coarse facial features and a distinctive high-stepping gait may develop. Unlike the severe infantile form, individuals with Salla disease typically survive into adulthood.

The accumulation of free sialic acid in lysosomes leads to progressive damage to neurons and other cells. Brain MRI typically shows delayed myelination or demyelination. While the neurological impairment is significant, many individuals with Salla disease can walk with support and develop limited language abilities. The condition is slowly progressive, with most adults requiring substantial support for daily activities.

Salla disease is caused by mutations in the SLC17A5 gene, which encodes the lysosomal sialic acid transporter (sialin). The condition is inherited in an autosomal recessive pattern and is particularly common in Finland due to a founder effect, where it affects approximately 1 in 40,000 births. Diagnosis is confirmed by elevated free sialic acid in urine and genetic testing. Treatment is currently supportive, though research into potential therapies continues.

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