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Screening for Pompe Disease in a Portuguese High Risk Population

2017-08Journal article Open access
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dc.contributor.authorAlmeida, V
dc.contributor.authorConceição, I
dc.contributor.authorFineza, I
dc.contributor.authorCoelho, T
dc.contributor.authorSilveira, F
dc.contributor.authorSantos, M
dc.contributor.authorValverde, A
dc.contributor.authorGeraldo, A
dc.contributor.authorMaré, R
dc.contributor.authorAguiar, TC
dc.contributor.authorMendonça, C
dc.contributor.authorMartins, J
dc.contributor.authorMedeiros, L
dc.contributor.authorBarroso, C
dc.contributor.authorVieira, JP
dc.contributor.authorMoreno, T
dc.contributor.authorNegrão, L
dc.contributor.authorSilva Dias, M
dc.contributor.authorLacerda, L
dc.contributor.authorEvangelista, T
dc.date.accessioned2018-01-30T16:47:39Z
dc.date.available2018-01-30T16:47:39Z
dc.date.issued2017-08
dc.description.abstractPompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients. During a one-year period, patients followed in Portuguese neuromuscular outpatient clinics with proximal muscle weakness affecting upper and/or lower limbs, hyperCKemia in two or more determinations or hypotonia and hyperCKemia, were screened for acid α-glucosidase deficiency by dried blood spots. Lysosomal acid-alpha-1,4-glucosidase activity was determined by tandem mass spectrometry and positive results were confirmed by molecular study. From the 99 patients screened, Pompe disease was confirmed in 4, with age of onset ranging from 2.5 to 48 years, all with limb girdle muscle weakness, corresponding to a frequency of 4% in our cohort and 4.9% of limb girdle muscle weakness. Screening for Pompe disease in high risk populations, using dried blood spots, was already performed in some European populations. Apart from two negative Scandinavian studies, positive cases were confirmed in 2.8-7.9% of patients presenting with limb girdle muscle weakness and in 0-2.5% with isolated hyperCKemia.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationNeuromuscul Disord. 2017 Aug;27(8):777-781pt_PT
dc.identifier.doi10.1016/j.nmd.2017.03.010pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2870
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.subjectHSJ NEUpt_PT
dc.subjectHDE NEUpt_PT
dc.subjectHSAC NEUpt_PT
dc.subjectAmbulatory Carept_PT
dc.subjectDried Blood Spot Testingpt_PT
dc.subjectGlycogen Storage Disease Type II/diagnosispt_PT
dc.subjectGlycogen Storage Disease Type II/physiopathologypt_PT
dc.subjectMuscle Weakness/diagnosis
dc.subjectMuscle Weakness/physiopathology
dc.subjectPortugal
dc.subjectProspective Studies
dc.subjectRisk
dc.titleScreening for Pompe Disease in a Portuguese High Risk Populationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage781pt_PT
oaire.citation.issue8pt_PT
oaire.citation.startPage777pt_PT
oaire.citation.titleNeuromuscular Disorderspt_PT
oaire.citation.volume27pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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