About ALG13-CDG

What is ALG13-CDG?

ALG13-CDG is a gene mutation that is associated with a rare form of inherited epilepsy known as Autosomal Recessive Primary Microcephaly (ARPM). This mutation is caused by a change in the ALG13 gene, which is responsible for the production of an enzyme involved in the production of proteins. People with this mutation have a smaller head size than normal and may experience seizures, developmental delays, and intellectual disability.

What are the symptoms of ALG13-CDG?

The symptoms of ALG13-CDG vary from person to person, but may include: developmental delay, intellectual disability, seizures, muscle weakness, vision and hearing loss, skeletal abnormalities, and heart defects. Other symptoms may include feeding difficulties, poor growth, and skin abnormalities.

What are the causes of ALG13-CDG?

ALG13-CDG is caused by mutations in the ALG13 gene. This gene provides instructions for making an enzyme called alginate lyase, which is involved in the production of a type of carbohydrate called alginate. Mutations in the ALG13 gene lead to a shortage (deficiency) of alginate lyase, which disrupts the production of alginate and causes the signs and symptoms of ALG13-CDG.

What are the treatments for ALG13-CDG?

At this time, there is no known cure for ALG13-CDG. Treatment focuses on managing the symptoms and complications of the condition. This may include physical therapy, occupational therapy, speech therapy, dietary modifications, and medications to manage seizures, pain, and other symptoms. In some cases, surgery may be recommended to correct certain physical abnormalities.

What are the risk factors for ALG13-CDG?

The risk factors for ALG13-CDG include:

1. Family history of the disorder
2. Mutation in the ALG13 gene
3. Consanguinity (marriage between close relatives)
4. Advanced maternal age
5. Exposure to certain environmental toxins or medications during pregnancy.

Is there a cure/medications for ALG13-CDG?

At this time, there is no known cure or medications for ALG13-CDG. However, research is ongoing and there is hope that treatments may be developed in the future.