UGDH and neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan: UDP-glucose dehydrogenase (UGDH)-related disorders are an understudied subset of congenital disorders of glycosylation that have been shown to lead to heart valve defects, developmental epileptic encephalopathy, and dystroglycanopathy, which are devastating health conditions that often require lifelong care.