Navegando por Palavras-chave "muscle diseases"

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    Disfagia orofaríngea na distrofia miotônica: avaliação fonoaudiológica e análise nasofibrolaringoscópica
    (Academia Brasileira de Neurologia - ABNEURO, 2001-06-01) Chiappetta, Ana Lúcia de Magalhães Leal [UNIFESP]; Oda, Adriana Leico [UNIFESP]; Zanoteli, Edmar [UNIFESP]; Guilherme, Arnaldo [UNIFESP]; Oliveira, Acary Souza Bulle [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)
    We herein present twenty myotonic dystrophy of Steinert patients with the main objective to evaluate and classify the oropharyngeal swallowing by the phonoaudiological clinical and nasofibrolaryngoscopical analysis. The age of the patients varied from 12 to 53 years, being 13 male and 7 female. The mean data: (1) statistically significant relation between the phonoaudiological clinical evaluation and nasofibrolaryngoscopical one; (2) stomatognatical system disorders present in 100%; (3) swallowing disorders present in 95%, when clinically evaluated, and in 70% when evaluated by the nasofibrolaryngoscopy; (4) higher difficulty to swallow consistent feed; (5) stomatognatical muscles very altered, pharyngeal phase disorders, cough after swallowing, antecedents of pneumonia and complaints of chewing/swallowing presented statistically significant correlation with severity of the sickness. The analysis were able to evaluate statical and functionally the involved structures in the swallowing, having got to take part of the rotine of attendance to the patients with myotonic dystrophy of Steinert.
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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