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Metabolic Myopathy
Published in Maher Kurdi, Neuromuscular Pathology Made Easy, 2021
McArdle disease is a type-V glycogen storage disease that commonly occurs in young patients with recurrent myoglobinuria and exertional cramps. The vacuoles are very fine and smaller than the ones described in Pompe disease. It is associated with absent phosphorylase enzymes in muscle fibers.
Muscle
Published in Laurie K. McCorry, Martin M. Zdanowicz, Cynthia Y. Gonnella, Essentials of Human Physiology and Pathophysiology for Pharmacy and Allied Health, 2019
Laurie K. McCorry, Martin M. Zdanowicz, Cynthia Y. Gonnella
McArdle’s disease is generally a benign condition that is managed by lifestyle changes and adaption. Although strenuous exertion should be avoided, regular aerobic exercise can be beneficial for muscle function and overall health.
Indeterministic Causality
Published in Donald Gillies, Causality, Probability, and Medicine, 2019
There were at least two reasons for treating deterministic causality before indeterministic causality. First of all, deterministic causality was the notion of causality used by the pioneers of scientific medicine such as Koch and Pasteur when they developed the germ theory of disease in the 19th century. Moreover, the type of causality used in medicine remained almost exclusively deterministic in the first half of the 20th century. Deterministic causality has continued to be used often in medicine since 1950, and is still used in some cases today. For example, an account of McArdle disease, which was discovered in the 1950s and 1960s, was given in section 10.2. This disease is caused by a single, completely recessive, rare, autosomal gene, and the causation here is deterministic. Anyone who has this gene suffers from McArdle disease. There is thus a considerable body of medical results which use only deterministic causality, and so a separate analysis of this notion of causality is definitely worthwhile.
Longitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms
Published in Ophthalmic Genetics, 2020
Veronika Vaclavik, Francine Naderi, André Schaller, Pascal Escher
This male patient has had painful muscle cramps and effort intolerance since his early childhood. At the age of 48 years, the patient asked his doctor for a muscle biopsy after he had performed a detailed internet search based on the symptoms he was experiencing. This muscle biopsy confirmed the diagnosis of McArdle disease. The patient later provided written consent to perform molecular testing. Using the Prepito DNA Blood 600 kit (PerkinElmer chemagen, Germany), genomic DNA was isolated from peripheral blood. All coding regions of the PYGM gene (NM_005609.2) including exon/intron boundaries were amplified and bidirectional Sanger sequencing was performed using the ABI Big Dye Terminator Cycle Sequencing Detection Kit v.3.1 (Applied Biosystems, USA) following the manufacturer’s instructions. Sequencing was performed on the ABI XL3500 genetic analyzer (Applied Biosystems, USA). The pathogenic PYGM c.148C>T p. (Arg50*) variant was identified at homozygous state and verified by a second independent sequencing reaction.
Pre- and peripartal management of a woman with McArdle disease: a case report
Published in Gynecological Endocrinology, 2018
Tina Stopp, Michael Feichtinger, Wolfgang Eppel, Thomas M. Stulnig, Peter Husslein, Christian Göbl
Glycogen storage disease type 5, also called McArdle disease, is an autosomal recessive inherited disorder in muscle metabolism caused by the lack or dysfunction of muscle glycogen phosphorylase (myophosphorylase). Due to this condition the ability to break down glycogen into glucose subunits within the skeletal muscle during muscle activity is inhibited. This results in intolerance to strenuous exercise which manifests as fatigue, muscle stiffness and myalgia, in some cases accompanied by myoglobinuria and in severe instances renal failure due to muscle breakdown and rhabdomyolysis [1]. Most Patients experience a period of less painful and more effective exercise after an initial period of muscle cramps. The so-called ‘second wind phenomenon’ is typical of McArdle disease [2]. This phenomenon is believed to be caused by a switch to alternative sources of energy such as fatty acid oxidation and an increased blood flow to the muscle [3]. The metabolic shift is more effective when the patient’s muscles are conditioned through regular aerobic exercise [4].
Diagnostic challenges in metabolic myopathies
Published in Expert Review of Neurotherapeutics, 2020
Corrado Angelini, Roberta Marozzo, Valentina Pegoraro, Sabrina Sacconi
Myoglobinuria is often due to a sudden muscle effort, especially during an exercise during high-intensity training without proper hydration, and therefore myoglobin and CK should be repeated after a rest period before undergoing a specific set of investigations including a muscle biopsy or DNA analysis. The muscle biopsy might be useful to differentiate patients with McArdle disease that show absent myophosphorylase with a simple histochemical stain.