Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?
Abstract: Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot test to detect GAA deficiency as a main screening tool. Dried blood spots were collected for GAA activity assay from 24 patients with unexplained limb-girdle muscular weakness without vacuolar myopathy in their muscle biopsy. Samples with reduced enzyme activity were also investigated for GAA gene mutations. Of the 24 patients with dried blood spots, one patient (4.2%) showed low GAA enzyme activity (NaG/AaGIA: 40.42; %INH: 87.22%). In this patient, genetic analysis confirmed two heterozygous mutations in the GAA gene (c.-32-13T>G/p.Arg854Ter). Our data confirm that clinicians should look for late-onset Pompe disease in patients whose clinical manifestation is an unexplained limb-girdle weakness even without vacuolar myopathy in muscle biopsy.
- Weitere Titel
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Doena de Pompe de incio tardio: qual a prevalncia na apresentao de fraqueza muscular de cinturas?
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation? ; volume:76 ; number:04 ; year:2018 ; pages:247-251
Arquivos de neuro-psiquiatria ; 76, Heft 04 (2018), 247-251
- Beteiligte Personen und Organisationen
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Lorenzoni, Paulo Jos
Kay, Cludia Suemi Kamoi
Higashi, Ndia Sugano
D'Almeida, Vnia
Werneck, Lineu Cesar
Scola, Rosana Herminia
- DOI
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10.1590/0004-282X20180018
- URN
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urn:nbn:de:101:1-2023101210383618272545
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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14.08.2025, 10:51 MESZ
Datenpartner
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Lorenzoni, Paulo Jos
- Kay, Cludia Suemi Kamoi
- Higashi, Ndia Sugano
- D'Almeida, Vnia
- Werneck, Lineu Cesar
- Scola, Rosana Herminia
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