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Neurology

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Home mechanical ventilation in a patient with Duchenne muscular dystrophy

Home mechanical ventilation in a patient with Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a hereditary progressive neuromuscular disorder that is inherited in X-linked recessive pattern. Mutation of dystrophin gene results into a loss of integrity and function of muscular fibres and their replacement by adipose and connective tissue. Muscle degeneration leads to motoric impairment and loss of walk around 12th year of age. Myocardium is also frequently affected. Respiratory muscles impairment and other complications lead to respiratory failure. If left untreated, death occurs around 20th year of life, usually due to cardiac or respiratory causes. Respiratory insufficiency development is treated by mechanical ventilation support.

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author: Ivana Paraničová | discipline: Internal Medicine, Neurology, Respiratory Medicine | published on: 23.12.2017 | last modified on: 16.4.2018 | Creative Commons License