Background The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. A network of twenty full and collaborating partners from eight European countries and the US contributed data on rare muscle glycogenosis in the EUROMAC registry. After approximately 3 years of data collection, the data in the registry was analysed. Results Of 282 patients with confirmed diagnoses of muscle glycogenosis, 269 had McArdle disease. New phenotypic features of McArdle disease were suggested, including a higher frequency (51.4%) of fixed weakness than reported before, normal CK values in a minority of patients (6.8%), ptosis in 8 patients, body mass index above background population and number of comorbidities with a higher frequency than in the background population (hypothyroidism, coronary heart disease). Conclusions The EUROMAC project and registry have provided insight into new phenotypic features of McArdle disease and the variety of co-comorbidities affecting people with McArdle disease. This should lead to better management of these disorders in the future, including controlling weight, and preventive screening for thyroid and coronary artery diseases, as well as physical examination with attention on occurrence of ptosis and fixed muscle weakness. Normal serum creatine kinase in a minority of patients stresses the need to not discard a diagnosis of McArdle disease even though creatine kinase is normal and episodes of myoglobinuria are absent.

Objectives: We aimed to examine the association between abdominal fat measured by ultrasound and anthropometric indices in children with obesity, and those with normal weight. We also examined the association between anthropometry and fat measures in the prediction of comorbidities in children with obesity. Methods: Forty children with body mass index of >95th percentile were included as cases, and a comparable group of 32 healthy average-weight peers were included as controls in this study. All children underwent clinical assessment, anthropometric measures, and evaluation of abdominal subcutaneous fat (SCF) and visceral fat by ultrasound. Fasting blood sugar, serum transaminases, and lipid profile of all the included children were also evaluated. Results: Children with obesity had a mean age of 8.7 +/- 2.9 years (range 3-13). The SCF and intraperitoneal fat (IPF) values correlated well with each other and with anthropometric measurements in children with obesity. Among all the included cases, 90% were metabolically unhealthy, 70% had hypertension, 52.5% had dyslipidemia, and 22.5% had echogenic liver. Anthropometric measures, abdominal SCF and IPF were higher in children with complications. SCF was observed as a good predictor for hepatic echogenicity among the measured ultrasound parameters (P: 0.03, odds ratio 4.6). The best cutoff value for SCF in cases with hepatic echogenicity was 23.2 mm with an overall accuracy of 80%. Conclusions: In children with obesity, abdominal SCF and IPF correlated well with anthropometric measures and were higher in children with comorbidities. This finding, however, did not predict comorbidities apart from those with echogenic liver.