DPM3-congenital disorder of glycosylation

DPM3-congenital disorder of glycosylation (DPM3-CDG) is an extremely rare type of congenital disorder of glycosylation. This group of conditions affects how glycoproteins are made, which are important for many body functions. In the single reported case, people with this condition showed signs like muscle weakness and abnormalities in walking. In addition to issues with muscle function, there was also involvement of the heart, specifically dilated cardiomyopathy. Because only one case has been reported so far, our understanding of this condition is still very limited.

People with DPM3-CDG may experience muscle weakness and a waddling gait. In the reported case, there was also dilated cardiomyopathy, which means the heart's ability to pump blood can be compromised.

DPM3-CDG is caused by changes in the DPM3 gene. These genetic changes likely lead to problems with the process of glycosylation, which is important in making glycoproteins. This disruption may result in the muscle and heart issues noted in the reported case.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.