Salla Disease (SLC17A5)
Salla disease is an autosomal recessive disease that is caused by pathogenic variants in the SLC17A5 gene. While diagnosed in individuals of various ethnicities, a higher prevalence of this disease is found in individuals of Finnish, Swedish, or Canadian Inuit descent. Salla disease is a progressive neurologic disorder that can present clinically with ataxia, psychomotor delay, and intellectual disability. This condition has a severe infantile form that presents prenatally or at birth and a later onset, milder form that presents with hypotonia during the first year of life. While the infantile onset form of this disease is often fatal in early childhood, individuals with the milder form can survive into adulthood. Several specific variants have been associated with more severe or milder phenotypes, and therefore the disease severity may be predicted in some patients based on the inherited variants.
For information about carrier frequency and residual risk, please see the Expanded Carrier Screen brochure.