Late-onset Pompe disease (LOPD) is a rare, but treatable metabolic myopathy due to acid alpha-glucosidase (GAA) deficiency. LOPD is characterized by progressive muscle weakness and/or respiratory failure, but some LOPD patients without typical signs could be overlooked. To evaluate the utility of Dreid Bood Spots (DBS) in the diagnostic work-up and assess the prevalence of LOPD within a Japanese high-risk population, we prospectively screened for LOPD in a Japanese cohort of undetermined myopathy patients aged one year or older with muscle weakness and/or elevated serum creatine kinase levels.

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