Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia

Molecular Genetics and Metabolism
J Perez-LopezMiquel Vilardell-Tarrés

Abstract

Pompe disease is a rare metabolic myopathy whose diagnosis is sometimes delayed despite being essential for improving clinical outcomes. We aimed to investigate the prevalence of late-onset Pompe disease among patients with a myopathy of unknown etiology, including polymyositis, or with idiopathic rise of creatine kinase (CK) levels, in a department of internal medicine. A cohort study was conducted in 241 subjects: 140 patients with myopathies of unknown origin or increased CK levels, 30 with polymyositis and 71 who constituted the control group of other myopathies. Acid α-glucosidase (GAA) activity was tested in dried blood spots. If a positive result was obtained, GAA activity in isolated lymphocytes and/or genetic testing was performed as a confirmatory diagnosis. Out of the 140 investigated patients, 2 patients with myopathies of unknown origin were confirmed to be positive for Pompe disease. Thus, late-onset Pompe disease should be considered among adult patients with myopathy of unknown origin.

References

Aug 13, 2003·Neurology·Anthony A Amato, Robert C Griggs
May 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·UNKNOWN ACMG Work Group on Management of Pompe DiseaseMichael S Watson
Jul 10, 2007·Molecular Genetics and Metabolism·Laura GortAmparo Chabás
Dec 15, 2007·Molecular Genetics and Metabolism·UNKNOWN Pompe Disease Diagnostic Working GroupJ Keutzer
Oct 22, 2008·Lancet·Ans T van der Ploeg, Arnold J J Reuser
Sep 15, 2010·Journal of Inherited Metabolic Disease·Bruno BembiSabrina Ravaglia
Jun 6, 2012·Molecular Genetics and Metabolism·Lisa D Hobson-WebbPriya S Kishnani
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Sep 10, 2013·Molecular Genetics and Metabolism·Nicolai PreislerJohn Vissing

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Citations

Nov 20, 2016·Muscle & Nerve·Nicolas TaisneThierry Cardon
Mar 18, 2019·Journal of Clinical Pathology·Marija MeznaricLea Leonardis
Sep 4, 2019·Nature Reviews. Drug Discovery·Srinivasa Reddy BonamSylviane Muller
May 28, 2019·Acta Neurologica Scandinavica·Aleksandra JastrzębskaAnna Kostera-Pruszczyk
Jul 17, 2019·Journal of Clinical Pathology·Tim M ReynoldsUNKNOWN Collaborators and research nurses as listed below
Jan 1, 2015·Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova·S S NikitinM O Kovalchuk
Nov 29, 2017·Journal of Neurology·W N LöscherJ V Wanschitz
May 10, 2018·Arquivos de neuro-psiquiatria·Paulo José LorenzoniRosana Herminia Scola
Nov 20, 2019·Journal of Clinical Neuromuscular Disease·Josef FinstererCarla A Scorza
Nov 11, 2017·Molecular Genetics and Metabolism·Mari MoriPriya S Kishnani

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