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

Molecular genetics and metabolism - 1 Apr 2015

Pérez-López Jordi, Selva-O'Callaghan Albert, Grau-Junyent Josep M, Gallego-Galindo Luis, Coll M Josep, García-Morillo Salvador, Torralba-Cabeza Miguel A, Vilardell-Tarrés Miquel

Abstract excerpt

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...

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PMID: 25752415
DOI: 10.1016/j.ymgme.2015.02.004

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