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Diagnosis Recommendations for Late-onset Pompe Disease

Brito-Avô, Luís; Alves, José Delgado; Costa, João Matos; Valverde, Ana; Santos, Lélita; Araújo, Francisco; Aguiar, Patrício; Marinho, António

Introduction: Pompe disease is a progressive and debilitating autossomal recessive myopathy due to mutations in lysossomal acid-α-glucosidase. Its late-onset form has a heterogeneous presentation mimicking other neuromuscular diseases, leading to diagnostic challenge.Objective: To develop consensus based recommendations for the diagnosis of late-onset Pompe Disease.Material and Methods: Bibliographic review and...

Date: 2014   |   Origin: Acta Médica Portuguesa
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