Navegando por Palavras-chave "debilidade muscular"

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    Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?
    (Assoc Arquivos Neuro- Psiquiatria, 2018) Lorenzoni, Paulo Jose; Kay, Claudia Suemi Kamoi; Higashi, Nadia Sugano; D'Almeida, Vania [UNIFESP]; Werneck, Lineu Cesar; Scola, Rosana Herminia
    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