McArdle's disease, known as blockage of muscle glycogen metabolism, is characterized by glycogen accumulation of chains in skeletal striated muscles. One of the typical symptoms of the disease is the feeling of intolerance to exercise. Severe muscle cram and contracture, which often cause stiffness, occur due to a lack of muscle energy substrate during the exercise. These factors can lead to muscle damage, myoglobinuria, and, in severe cases, renal failure and rhabdomyolysis. Rhabdomyolysis is a syndrome that presents injury and necrosis of muscle cells leading to the release of intracellular material to the circulatory system. The present study aimed to report rhabdomyolysis in an individual with McArdle's disease after exercise of walking with low intensity. Patient, aged 33 years, was treated in the emergency room of a hospital located in the State of Rio de Janeiro, Brazil. After performing a full lap on the block of home (~500 m in ~4 min 37 s), walking at a moderate speed (~6.5 km/h), the individual felt sick and was rescued, later being hospitalized. The examinations collected presented hematocrit (HCT) compatible with chronic disease anemia and myoglobinuria. The patient was discharged from the intensive care center on the 3 day, after a 45% drop in creatine kinase. The patient described in the present study achieved full recovery. Attention to symptoms, early diagnosis, and immediate treatment made it possible to interrupt the development of complications caused by rhabdomyolysis, not allowing progression to acute renal failure.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.4103/1319-2442.374387 | DOI Listing |
Disabil Rehabil
November 2024
Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
J Med Case Rep
October 2024
Department of Neurology, Carl Von Ossietzky University Oldenburg, Oldenburg, Germany.
Background: Glycogen storage disease type 5 (McArdle disease) leads to a deficiency in the activity of myophosphorylase resulting in an impaired glucose utilization. The disease can be caused by a variety of mutations in the PYGM gene, and its typical clinical manifestation is muscles weakness within the first three decades of life.
Case Presentation: In this case report we present the diagnostic work-up of a physically active 78-year-old Caucasian patient suffering from a 2-year history of progressive camptocormia including clinical, radiologic, histological, and genetic tests.
Cureus
September 2024
Internal Medicine, Unidade Local de Saúde do Algarve, Unidade Hospitalar de Portimão, Portimão, PRT.
Med Sci Sports Exerc
December 2024
Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, SPAIN.
Introduction: Whether cardiac impairment can be fully discarded in McArdle disease-the paradigm of "exercise intolerance," caused by inherited deficiency of the skeletal muscle-specific glycogen phosphorylase isoform ("myophosphorylase")-remains to be determined.
Methods: Eight patients with McArdle disease and seven age/sex-matched controls performed a 15-min moderate, constant-load cycle-ergometer exercise bout followed by a maximal ramp test. Electrocardiographic and two-dimensional transthoracic (for cardiac dimension's assessment) and speckle tracking (for left ventricular global longitudinal strain (GLS) assessments) echocardiographic evaluations were performed at baseline.
J Pediatr Endocrinol Metab
September 2024
Department of Pediatric Metabolism and Nutrition, Faculty of Medicine, Gazi University, Yenimahalle, Ankara, Türkiye.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!