Management

There are currently no disease-specific therapies for MDGA2-related DEE. Management is supportive and guided by general DEE principles. Treatment in a multidisciplinary team is recommended and is directed to the symptoms manifested by the patient.

Genetic counselling:Autosomal recessive inheritance confers a 25% recurrence risk in future pregnancies for carrier parents. Molecular prenatal diagnosis and preimplantation genetic testing are available where pathogenic variants have been confirmed in the proband.