Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease

Lorenzoni, Paulo José; Werneck, Lineü Cesar; Kay, Cláudia Suemi Kamoi; Arndt, Raquel Cristina; Silvado, Carlos Eduardo; Scola, Rosana Hermínia

doi:10.1007/s13760-018-1038-1

Cited by 3 publications

(1 citation statement)

References 33 publications

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“…GP-MM is encoded by the PYGM gene located on chromosome 11q13 [ 10 ]. A total of 206 pathogenic mutations have been described in this gene [ 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 ], with the most prevalent in the Caucasian population (allele frequency ~50%) being the nonsense c.148C>T p.(R50*) variant [ 16 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 ]. There is no association between disease phenotype and PYGM genotype, as the vast majority of mutations generally cause a complete loss of GP-MM activity [ 26 , 31 , 33 , 34 , 35 , 36 ].…”

Section: Introductionmentioning

confidence: 99%

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

Villarreal-Salazar

Brull

Nogales‐Gadea

et al. 2021

Genes

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McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the PYGM gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. Clinical symptoms are mainly characterized by transient acute “crises” of early fatigue, myalgia and contractures, which can be accompanied by rhabdomyolysis. Owing to the difficulty of performing mechanistic studies in patients that often rely on invasive techniques, preclinical models have been used for decades, thereby contributing to gain insight into the pathophysiology and pathobiology of human diseases. In the present work, we describe the existing in vitro and in vivo preclinical models for McArdle disease and review the insights these models have provided. In addition, despite presenting some differences with the typical patient’s phenotype, these models allow for a deep study of the different features of the disease while representing a necessary preclinical step to assess the efficacy and safety of possible treatments before they are tested in patients.

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Section: Introductionmentioning

confidence: 99%

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

Villarreal-Salazar

Brull

Nogales‐Gadea

et al. 2021

Genes

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A new mutation in PYGM causing McArdle disease in a Brazilian patient

et al. 2019

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Rhabdomyolysis Episode in an Individual with McArdle’s Disease after Low Aerobic Exercise

Dantas¹,

Oliveira²,

Marcos-Pardo³

et al. 2022

Saudi Journal of Kidney Diseases and Transplantation

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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 3rd 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.

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Single-centre experience on genotypic and phenotypic features of southern Brazilian patients with McArdle disease

Cited by 3 publications

References 33 publications

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies

A new mutation in PYGM causing McArdle disease in a Brazilian patient

Rhabdomyolysis Episode in an Individual with McArdle’s Disease after Low Aerobic Exercise

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