title: [Diagnosis recommendations for late-onset Pompe disease].
abstract: BACKGROUND
  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.
  
  
  METHODS
  Bibliographic review and analysis of an opinion questionnaire applied to a group of specialists with expertise in the diagnosis of several myopathies and lysossomal storage disorders. Discussed in consensus meeting.
  
  
  CONCLUSIONS
  Patients with a progressive limb-girdle weakness, fatigue, cramps and muscle pain should be evaluated with CK levels, electromyography, dynamic spirometry and muscle biopsy in inconclusive cases. Suspected cases and those in which muscle biopsy could not allow other diagnosis should be screened for lysossomal acid-α-glucosidase deficiency with DBS (dried blood spot). The diagnosis should be confirmed by determination of lysossomal acid-α-glucosidase activity in a second sample and lysossomal acid-α-glucosidase gene sequencing.
authors.affiliation: Serviço de Medicina 1. Hospital de Santa Maria. Centro Hospitalar Lisboa Norte. Lisboa. Portugal.
authors.forename: Luis
authors.initials: L
authors.lastname: Brito-Avô
authors.affiliation: Serviço de Medicina 4. Hospital Fernando da Fonseca. Amadora. & Núcleo de Estudos das Doenças Raras. Centro de Estudos de Doenças Crónicas (CEDOC). Faculdade de Ciências Médicas de Lisboa. Lisboa. Portugal.
authors.forename: José Delgado
authors.initials: JD
authors.lastname: Alves
authors.affiliation: Serviço de Medicina 3. Hospital Distrital de Santarém. Santarém. Portugal.
authors.forename: João Matos
authors.initials: JM
authors.lastname: Costa
authors.affiliation: Serviço de Neurologia. Hospital Fernando da Fonseca. Amadora. Portugal.
authors.forename: Ana
authors.initials: A
authors.lastname: Valverde
authors.affiliation: Serviço de Medicina Interna. Centro Hospitalar e Universitário de Coimbra. Coimbra. Portugal.
authors.forename: Lélita
authors.initials: L
authors.lastname: Santos
authors.affiliation: Serviço de Medicina Interna. Hospital Beatriz Ângelo. Loures. Portugal.
authors.forename: Francisco
authors.initials: F
authors.lastname: Araújo
authors.affiliation: Serviço de Medicina 1. Hospital de Santa Maria. Centro Hospitalar Lisboa Norte. Lisboa. Portugal.
authors.forename: Patrício
authors.initials: P
authors.lastname: Aguiar
authors.affiliation: Unidade de Imunologia Clínica. Centro Hospitalar do Porto. Porto. Portugal.
authors.forename: António
authors.initials: A
authors.lastname: Marinho
authors.affiliation: Serviço de Medicina 1. Hospital de Santa Maria. Centro Hospitalar Lisboa Norte. Lisboa. Portugal.
authors.forename: Anabela
authors.initials: A
authors.lastname: Oliveira
authors.affiliation: Serviço de Medicina 1. Hospital de Santa Maria. Centro Hospitalar Lisboa Norte. Lisboa. Portugal.
authors.forename: Daniel
authors.initials: D
authors.lastname: Gomes
mesh_terms: D017668:Age of Onset; D000465:Algorithms; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis*; D006801:Humans; D017410:Practice Guidelines as Topic