title: Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.
abstract: To describe respiratory function in a series of patients with late-onset Pompe disease after the definitive diagnosis and before enzyme replacement therapy.
  
  
  
  This was a cross-sectional study involving patients with a definitive molecular diagnosis of late-onset Pompe disease. The data analyzed included age at symptom onset; age at definitive diagnosis; type of initial symptoms; time from symptom onset to diagnosis; FVC in the sitting and supine positions; six-minute walk distance; and locomotor ability. Analyses were carried out using frequencies, medians, minimum values, and maximum values.
  
  
  
  Six patients were included in the study. The median age at symptom onset was 15 years (range, 13-50 years), and the median age at diagnosis was 39.5 years (range, 10-64 years). The median time from symptom onset to diagnosis was 8 years (range, 0-45 years). In all cases, the initial manifestation of the disease had been motor weakness. The median FVC in percentage of the predicted value (FVC%) in the sitting and supine positions was 71.0% (range, 22.9-104.6%) and 58.0% (range, 10.9-106.9%), respectively. The median ΔFVC% was 24.5% (range, -4.59 to 52.40%).The median six-minute walk distance was 391.7 m (range, 97-702 m) .
  
  
  
  In this case series, the time from symptom onset to diagnosis was long. Although respiratory signs or symptoms were not the initial manifestations of the disease, 66.7% of the patients showed reduced FVC% in the sitting and supine positions at diagnosis.
authors.affiliation: . Programa de Pós-Graduação em Pesquisa Aplicada à Saúde da Criança e da Mulher, Instituto Nacional de Saúde da Mulher, Criança e Adolescente Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro (RJ) Brasil.|. Setor de Fisioterapia Respiratória, Instituto Nacional de Saúde da Mulher, Criança e Adolescente Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro (RJ) Brasil.
authors.forename: Bruna de Souza
authors.initials: BS
authors.lastname: Sixel
authors.affiliation: . Setor de Prova de Função Pulmonar, Instituto Nacional de Saúde da Mulher, Criança e Adolescente Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro (RJ) Brasil.
authors.forename: Luanda Dias da
authors.initials: LD
authors.lastname: Silva
authors.affiliation: . Setor de Fisioterapia Motora, Instituto Nacional de Saúde da Mulher, Criança e Adolescente Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro (RJ) Brasil.
authors.forename: Nicolette Celani
authors.initials: NC
authors.lastname: Cavalcanti
authors.affiliation: . Ambulatório de Doenças Musculares e Neurofisiologia, Instituto de Neurologia Deolindo Couto, Universidade Federal do Rio de Janeiro, Rio de Janeiro (RJ) Brasil.
authors.forename: Glória Maria Cardoso de Andrade
authors.initials: GM
authors.lastname: Penque
authors.affiliation: . Setor de Prova de Função Pulmonar, Instituto Nacional de Saúde da Mulher, Criança e Adolescente Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro (RJ) Brasil.
authors.forename: Sandra
authors.initials: S
authors.lastname: Lisboa
authors.affiliation: . Centro de Genética Médica, Instituto Nacional de Saúde da Mulher, Criança e Adolescente Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro (RJ) Brasil.
authors.forename: Dafne Dain Gandelman
authors.initials: DD
authors.lastname: Horovitz
authors.affiliation: . Centro de Genética Médica, Instituto Nacional de Saúde da Mulher, Criança e Adolescente Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro (RJ) Brasil.
authors.forename: Juan Clinton
authors.initials: JC
authors.lastname: Llerena
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D001938:Brazil; D002648:Child; D003430:Cross-Sectional Studies; D057210:Delayed Diagnosis; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D008875:Middle Aged; D012129:Respiratory Function Tests; D012132:Respiratory Muscles / Q000503:physiopathology; D014797:Vital Capacity; D000070857:Walk Test; D055815:Young Adult