ALLMedicine™ Metabolic Myopathies Center

Dec 27th, 2022 - Background and Objectives: Creatine kinase (CK) is a commonly used screening test for neuromuscular disorders (NMDs). However, hyperCKemia can result from several pathologic and physiologic causes. We analyzed neuromuscular disorders in noninfant ...

Dec 21st, 2022 - Metabolic myopathies are disorders that affect skeletal muscle substrate oxidation. Although some drugs and hormones can affect metabolism in skeletal muscle, this review will focus on the genetic metabolic myopathies. Impairments in glycogenolysi...

Sep 30th, 2022 - There are no recommended guidelines or clinical studies on safety of COVID-19 vaccines in patients with inborn errors of metabolism (IEMs). Here, we aimed to examine the relationship between COVID-19 vaccination and metabolic outcome in paediatric...

Aug 17th, 2022 - Patients with neuromuscular conditions are at increased risk of suffering perioperative complications related to anaesthesia. There is currently little specific anaesthetic guidance concerning these patients. Here, we present the European Neuromus...

Jun 26th, 2022 - Idiopathic inflammatory myopathies are a heterogeneous set of systemic inflammatory disorders primarily affecting muscle. Signs and symptoms vary greatly between and within subtypes, requiring supportive laboratory and pathologic evidence to confi...

Aug 11th, 2021 - BACKGROUND: Neuromuscular diseases affect more than 5% of the population in Western countries. Some of the more rare neuromuscular disorders are patients with metabolic myopathies, which are hereditary disorders caused by enzymatic defects of inte...

Oct 6th, 2020 - McArdle disease, glycogen storage disease type V, is a rare metabolic disease caused by mutations in the PYGM gene resulting in absence of the enzyme muscle phosphorylase. Affected individuals are unable to utilize sugar stored as glycogen in musc...

Jan 22nd, 2020 - Exertional symptoms are the hallmarks of metabolic myopathies, supporting the concept of using functional tests when this diagnosis is suspected. Exercise increases the concentration of muscle metabolites in the venous blood supply (e.g. lactate, ...

Aug 17th, 2017 - BACKGROUND Energy insufficiency: Mitochondrial and metabolic myopathies are inherited diseases compromising cellular energy metabolism, which especially affects skeletal muscle because of its high energy needs. Chemical energy is stored in the bod...

Jan 20th, 2017 - It has recently been documented how patients with GSDIIIa have a moderate to severely reduced exercise capacity, and that exercise induces muscle pain and cramps. These symptoms are caused by the inability to mobilize skeletal muscle glycogen and ...

Feb 28th, 2019 - Myotonic dystrophies. These are more often type 2 than type 1.