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Lookup NU author(s): Professor Jordi Diaz ManeraORCiD
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© 2015 Elsevier B.V. We aimed to screen for Pompe disease in patients with unclassified limb-girdle muscular dystrophy (LGMD) or asymptomatic hyperCKemia using dried blood spot (DBS) assays. Subsequently, we aimed to calculate the diagnostic delay between initial symptom presentation and the diagnosis. A prospective, multicenter, observational study was conducted in 348 patients: 146 with unclassified LGMD and 202 with asymptomatic or paucisymptomatic hyperCKemia. We quantified levels of acid alpha-glucosidase (GAA) from dried blood spots analyzed fluorometrically. The test was positive in 20 patients, and Pompe disease was confirmed by genetic testing in 16. Undiagnosed Pompe disease was detected in 7.5% of patients with LGMD and in 2.5% of patients with persistent, idiopathic elevation of serum creatine kinase. The c.-32-13 T > G mutation was found most commonly. The diagnostic delay was 15 years on average. In conclusion, DBS tests are useful and reliable screening tools for Pompe disease. We recommend the dried blood spot test to be included in the diagnostic work-up of patients with unclassified myopathies with proximal weakness and/or hyperCKemia of unknown cause and, when positive, to define the diagnosis, it will have to be confirmed by biochemical and/or molecular genetic analysis.
Author(s): Gutierrez-Rivas E, Bautista J, Vilchez JJ, Muelas N, Diaz-Manera J, Illa I, Martinez-Arroyo A, Olive M, Sanz I, Arpa J, Fernandez-Torron R, Lopez de Munain A, Jimenez L, Solera J, Lukacs Z
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Print publication date: 01/05/2015
Online publication date: 23/04/2015
Acceptance date: 20/04/2015
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd
PubMed id: 25998610
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