Dandy-Walker Syndrome Exposed: The Shocking Reality Behind This Rare Brain
Introduction Dandy-Walker Syndrome (DWS) is a congenital brain malformation that affects the cerebellum—the part of the brain responsible for movement, balance, and coordination. This rare neurological disorder can present challenges not only to those affected but also to their families…
Blood test can now diagnose Glut1 deficiency syndrome
Glut1 deficiency syndrome is a rare and disabling neurological disease still relatively unknown to the medical community. A mutation in the SLC2A1 gene in affected patients causes the glucose transporter GLUT1 to malfunction. Since this transporter is responsible for the…
Arrhythmogenic Cardiomyopathy: A Rare Genetic Condition
Arrhythmogenic cardiomyopathy is a very rare genetic cardiomyopathy which thought to affect 1 in 5,000 people, where the heart muscle (myocardium) is replaced by both scar (fibrosis) and fat. This can mainly affect the right ventricle but sometimes the left…
