Literature DB >> 14520671

A diagnostic cycle test for McArdle's disease.

John Vissing1, Ronald G Haller.   

Abstract

We investigated whether the second wind phenomenon (ie, a decrease in heart rate and perceived exertion during exercise) is pathognomonic for McArdle's disease. Twenty-four patients with McArdle's disease, 17 healthy subjects, and 25 patients with other inborn errors of muscle metabolism cycled a constant workload for 15 minutes. In McArdle's disease patients, heart rate consistently decreased by 35 +/- 3 beats per minute from the 7(th) to the 15(th) minute of exercise, whereas heart rate increased progressively with exercise in all 42 control subjects. The findings indicate that cycling at a moderate, constant workload provides a specific, sensitive, and simple diagnostic test for McArdle's disease.

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Year:  2003        PMID: 14520671     DOI: 10.1002/ana.10725

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  14 in total

1.  Phenotype consequences of myophosphorylase dysfunction: insights from the McArdle mouse model.

Authors:  Astrid Brull; Noemí de Luna; Albert Blanco-Grau; Alejandro Lucia; Miguel Angel Martin; Joaquin Arenas; Ramon Martí; Antoni L Andreu; Tomàs Pinós
Journal:  J Physiol       Date:  2015-05-18       Impact factor: 5.182

Review 2.  Muscle glycogenoses: an overview.

Authors:  S Di Mauro
Journal:  Acta Myol       Date:  2007-07

Review 3.  McArdle disease: a unique study model in sports medicine.

Authors:  Alfredo Santalla; Gisela Nogales-Gadea; Niels Ørtenblad; Astrid Brull; Noemi de Luna; Tomàs Pinós; Alejandro Lucia
Journal:  Sports Med       Date:  2014-11       Impact factor: 11.136

Review 4.  Skeletal muscle disorders of glycogenolysis and glycolysis.

Authors:  Richard Godfrey; Ros Quinlivan
Journal:  Nat Rev Neurol       Date:  2016-05-27       Impact factor: 42.937

5.  Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients.

Authors:  Dale E Rae; Timothy D Noakes; Alejandro F San Juan; Margarita Pérez; Gisela Nogales-Gadea; Jonatan R Ruiz; María Morán; Miguel A Martín; Antoni L Andreu; Joaquín Arenas; Alejandro Lucia
Journal:  Eur J Appl Physiol       Date:  2010-08-04       Impact factor: 3.078

6.  Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.

Authors:  Judit Núñez-Manchón; Alfonsina Ballester-Lopez; Emma Koehorst; Ian Linares-Pardo; Daniëlle Coenen; Ignacio Ara; Carlos Rodriguez-Lopez; Alba Ramos-Fransi; Alicia Martínez-Piñeiro; Giuseppe Lucente; Miriam Almendrote; Jaume Coll-Cantí; Guillem Pintos-Morell; Alejandro Santos-Lozano; Joaquin Arenas; Miguel Angel Martín; Mauricio de Castro; Alejandro Lucia; Alfredo Santalla; Gisela Nogales-Gadea
Journal:  J Inherit Metab Dis       Date:  2018-06-20       Impact factor: 4.982

7.  Exercise stress testing in children with metabolic or neuromuscular disorders.

Authors:  Tim Takken; Wim G Groen; Erik H Hulzebos; Cornelia G Ernsting; Peter M van Hasselt; Berthil H Prinsen; Paul J Helders; Gepke Visser
Journal:  Int J Pediatr       Date:  2010-07-15

8.  Clinical utility gene card for McArdle disease.

Authors:  Rhonda L Taylor; Mark Davis; Emma Turner; Astrid Brull; Tomás Pinos; Macarena Cabrera; Kristen J Nowak
Journal:  Eur J Hum Genet       Date:  2018-01-25       Impact factor: 4.246

9.  Prolonged exercise testing in two children with a mild Multiple Acyl-CoA-Dehydrogenase deficiency.

Authors:  T Takken; Jwh Custers; G Visser; L Dorland; Pjm Helders; Tj de Koning
Journal:  Nutr Metab (Lond)       Date:  2005-05-20       Impact factor: 4.169

Review 10.  Rhabdomyolysis: a genetic perspective.

Authors:  Renata Siciliani Scalco; Alice R Gardiner; Robert Ds Pitceathly; Edmar Zanoteli; Jefferson Becker; Janice L Holton; Henry Houlden; Heinz Jungbluth; Ros Quinlivan
Journal:  Orphanet J Rare Dis       Date:  2015-05-02       Impact factor: 4.123

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