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Description
Myotonic dystrophy (MD) is a dominantly inherited disease.1 The genetic abnormality has been localized to chromosome 19q13.3, where expanded CTG repeat is found in the 3′ untranslated region encoding the putative serine-threonine protein kinase.2 MD is known to cause motor impairment, also affecting respiration. Although chronic respiratory failure in MD is a frequent and potentially life-threatening complication,1,3,4 no effective treatment is available. In this study, we evaluated the effect of respiratory training for patients with MD using an inspiratory resistant device. Patients. Ten patients with MD (six men, four women) who underwent respiratory training in our hospital in 1996 and 1997 were included in this study. The diagnosis in each patient was established based on the criteria of the Working Group on the Molecular Defect in MD, where the diagnosis can be clinically established if both weakness and myotonia are present in distal parts of the upper or lower extremities.5 We also confirmed the presence of …
Journal
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- Neurology
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Neurology 51 641-642, 1998-08-01
Ovid Technologies (Wolters Kluwer Health)
