Intermediate severe Salla disease is a rare, inherited metabolic disorder caused by a deficiency of the enzyme sialic acid synthase. It is characterized by severe intellectual disability, seizures, and movement disorders. Affected individuals may also have vision and hearing problems, as well as skeletal and cardiac abnormalities. There is currently no cure for this disorder, but supportive care and management of symptoms can help improve quality of life.

The symptoms of intermediate severe Salla disease vary depending on the age of the individual, but can include:

-Developmental delay
-Intellectual disability
-Seizures
-Movement disorders
-Growth retardation
-Feeding difficulties
-Hearing loss
-Vision problems
-Behavioral problems
-Sleep disturbances
-Speech and language delays
-Gastrointestinal problems
-Skin abnormalities

Intermediate severe Salla disease is caused by a mutation in the SLC17A5 gene, which is responsible for the production of a protein called sialin. This protein is essential for the proper functioning of the lysosomes, which are responsible for breaking down and recycling cellular waste. Without this protein, the lysosomes become dysfunctional, leading to the accumulation of waste products in the cells and causing the symptoms of Intermediate severe Salla disease.

The main treatment for intermediate severe Salla disease is enzyme replacement therapy (ERT). ERT involves replacing the missing enzyme with a synthetic version, which helps to reduce the symptoms of the disease. Other treatments may include physical therapy, occupational therapy, speech therapy, and dietary modifications. In some cases, medications may be prescribed to help manage symptoms.

1. Genetic predisposition: Intermediate severe Salla disease is caused by a genetic mutation in the SLC17A5 gene.

2. Age: The disease is more common in children under the age of 5.

3. Gender: Boys are more likely to be affected than girls.

4. Ethnicity: Intermediate severe Salla disease is more common in people of Finnish descent.

5. Environmental factors: Exposure to certain environmental toxins may increase the risk of developing the disease.

At this time, there is no cure for intermediate severe Salla disease. Treatment focuses on managing symptoms and preventing complications. Medications may be used to help manage symptoms such as seizures, muscle spasms, and difficulty walking. Physical therapy and occupational therapy may also be recommended to help improve mobility and strength.