Salla disease

Salla disease is a condition that primarily affects the nervous system. It is known as the mildest form of the group of disorders that involve the storage of free sialic acid. Children with this condition usually show signs of poor muscle tone during their first year of life and may later develop a variety of neurological issues. Over time, people with Salla disease can experience a range of symptoms including problems with muscle coordination and movement. The overall progression of the condition is gradual, and its presentation can vary among those affected.

Common symptoms include hypotonia (poor muscle tone) in infancy, developmental delay, intellectual disability, and seizures. Additional signs may include ataxia (lack of coordination), muscle spasticity, and involuntary slow movements of the limbs (athetosis). Only about one-third of affected children are able to learn to walk.

Salla disease is caused by mutations in the SLC17A5 gene. It is inherited in an autosomal recessive manner, meaning that a child needs to receive a copy of the mutated gene from both parents to develop the condition.

Treatment for Salla disease is generally symptomatic and supportive. This means that care primarily focuses on managing the symptoms rather than curing the condition.

The progression of Salla disease is gradual and primarily affects the nervous system over time. While some children may reach certain developmental milestones, such as walking, many experience ongoing neurological challenges and a decline in function as they age. Information about long-term quality of life is limited due to the rarity of the disease.

Information about current research is currently limited for this condition.