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.

Determination of cetirizine, diltiazem, or verapamil and amlodipine in an active and in dosage formulations has been performed using a simple RP-HPLC method. Rosuvastatin is used in this novel RP-HPLC method as an internal standard to improve the selectivity of the method. At 230 nm, the separation was performed using a mobile phase consisting of methanol, acetonitrile, and water mixture in a ratio of 65:5:30, and pH at 2.8 allowed improved separation and faster times of analysis. ICH guidelines have pursued the validation of the method by assessing accuracy, precision (%RSD > 2), and linearity (>0.999). The retention times of diltiazem, verapamil, amlodipine, cetirizine, and rosuvastatin was found to be 2.5, 3.2, 4.1 and 6 minutes, respectively. The specificity of the proposed method was good as no interference of excipients of the tablets was observed in the analysis. The developed method could be used for routine quality control and in biological samples for the analysis of these drugs.