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Cardiopulmonary Support in Duchenne Muscular Dystrophy

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Abstract

Duchenne muscular dystrophy (DMD) is an X-linked, rapidly progressive myopathy affecting the limb muscles, the respiratory muscles, the heart, the intestines, and the brain. Since about 90% of DMD patients die from muscular respiratory failure or cardiomyopathy, early and adequate therapy is essential. Ventilatory failure from muscle weakness requires mechanical support for ventilation and coughing as soon as there is symptomatic nocturnal hypoventilation. Today noninvasive positive-pressure ventilation (NIPPV) is the method of choice for supportive long-term mechanical ventilation in DMD. For assisted coughing, various methods are available, among which the mechanical in-exsufflator is the most widely used device. There is large nonrandomized clinical trial evidence that NIPPV improves quality of life and prolongs the lives of DMD patients if medical, social, economic, and ethical issues, raised by the availability of long-term NIPPV, are adequately addressed. Cardiac involvement in DMD manifests as impulse generation or impulse conduction abnormalities or cardiomyopathy. Cardiac abnormalities in DMD respond well to adequate therapy. Though DMD is ultimately a fatal disease, quality of life and life expectancy can be markedly improved if cardiopulmonary manifestations are adequately treated.

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    Josef Finsterer

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Finsterer, J. Cardiopulmonary Support in Duchenne Muscular Dystrophy. Lung 184, 205–215 (2006). https://doi.org/10.1007/s00408-005-2584-x

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