Understanding the Experience of Myotonic Dystrophy. Mixed Method Study
نویسندگان
چکیده
منابع مشابه
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myotonic dystrophy
SYNOPSIS A case of myotonic dystrophy accompanied by alveolar hypoventilation and hypersomnia is presented. Radiological studies and EMG examination of the intercostal muscles demonstrated that the respiratory muscles were affected by the disease, while polygraphic recordings showed that the alveolar hypoventilation and pulmonary hypertension worsened during sleep. The hypersomnia preceded the ...
متن کاملKnowledge, views, and experience of 25 women with myotonic dystrophy.
Twenty-five affected women of reproductive age known to the North West Regional Genetics Family Register (NWRGFR) were interviewed. A semistructured questionnaire, completed by the interviewer, was used to assess understanding and experience of the clinical and genetic aspects of myotonic dystrophy (MD) and attitudes to prenatal diagnosis (PND). Characteristic features of MD (muscle weakness an...
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ژورنال
عنوان ژورنال: Journal of Genetic Counseling
سال: 2014
ISSN: 1059-7700,1573-3599
DOI: 10.1007/s10897-014-9752-1