Gmppa-Cdg

GMPPA-congenital disorder of glycosylation (GMPPA-CDG) is a rare disease, part of the group of congenital disorders of glycosylation. It is characterized by lack of tears (alacrima), difficulty in swallowing due to problems in the esophagus muscle (achalasia), and intellectual disability, starting at birth or in early infancy. More variable features include low muscle tone (hypotonia), gait abnormalities, differently sized pupils (anisocoria), and vision or hearing problems. The disorder is very similar to the syndrome/resources/1" target="_blank">triple A syndrome, but patients with AAMR do not have adrenal insufficiency. It is caused by a mutation in the GMPPA gene and is inherited in an autosomal recessive way.  Treatment is directed to the symptoms and may involve using artificial tears, medication, balloon dilation or surgery to correct the defect in the esophagus, and physical therapy.