Cori-Forbes disease, or type III glycogenosis, is due to abnormalities in the GDE gene encoding the glycogen-disrupting enzyme. Hepatic involvement is common and accounts for most symptoms in childhood, whereas muscle involvement occurs more randomly and particularly with a late-onset, including in adulthood.
In an article published in September 2016, a French team described the clinical and molecular data from 18 patients with Cori-Forbes disease. The patients were followed in 2006 and 2010 at the Institute of Myology, Paris, with the aim of evaluating the degree of disease progression. All were thus subjected to a battery of tests including force measurements (manual testing, dynamometry on several muscle groups, Purdue test) and functional scores such as MFM (motor function measurement). According to the authors, manual testing and dynamometric measurements of elbow extension are the two parameters that are the least accountable for disease progression. The other parameters are more sensitive and represent significant judgment criteria for future clinical trials.
