Dataset Information

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

ABSTRACT: 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.

SUBMITTER: Scalco RS

PROVIDER: S-EPMC7687836 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

Scalco Renata S RS Lucia Alejandro A Santalla Alfredo A Martinuzzi Andrea A Vavla Marinela M Reni Gianluigi G Toscano Antonio A Musumeci Olimpia O Voermans Nicol C NC Kouwenberg Carlyn V CV Laforêt Pascal P San-Millán Beatriz B Vieitez Irene I Siciliano Gabriele G Kühnle Enrico E Trost Rebeca R Sacconi Sabrina S Stemmerik Mads G MG Durmus Hacer H Kierdaszuk Biruta B Wakelin Andrew A Andreu Antoni L AL Pinós Tomàs T Marti Ramon R Quinlivan Ros R Vissing John J

Orphanet journal of rare diseases 20201124 1

<h4>Background</h4>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. Afte ...[more]

PMID: 33234167

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Project description:We analyzed the effects of a 4-month resistance (weight lifting) training program followed by a 2-month detraining period in 7 adult McArdle patients (5 female) on: muscle mass (assessed by DXA), strength, serum creatine kinase (CK) activity and clinical severity. Adherence to training was ≥84% in all patients and no major contraindication or side effect was noted during the training or strength assessment sessions. The training program had a significant impact on total and lower extremities' lean mass (P < 0.05 for the time effect), with mean values increasing with training by +855 g (95% confidence interval (CI): 30, 1679) and +547 g (95%CI: 116, 978), respectively, and significantly decreasing with detraining. Body fat showed no significant changes over the study period. Bench press and half-squat performance, expressed as the highest value of average muscle power (W) or force (N) in the concentric-repetition phase of both tests showed a consistent increase over the 4-month training period, and decreased with detraining. Yet muscle strength and power detraining values were significantly higher than pre-training values, indicating that a training effect was still present after detraining. Importantly, all the participants, with no exception, showed a clear gain in muscle strength after the 4-month training period, e.g., bench press: +52 W (95% CI: 13, 91); half-squat: +173 W (95% CI: 96, 251). No significant time effect (P > 0.05) was noted for baseline or post strength assessment values of serum CK activity, which remained essentially within the range reported in our laboratory for McArdle patients. All the patients changed to a lower severity class with training, such that none of them were in the highest disease severity class (3) after the intervention and, as such, they did not have fixed muscle weakness after training. Clinical improvements were retained, in all but one patient, after detraining, such that after detraining all patients were classed as class 1 for disease severity.

Dataset Information

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

Publications

Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC).

Similar Datasets

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