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Clinical Manifestations and Overall Management Strategies for Duchenne Muscular Dystrophy

Protocol
Part of the Methods in Molecular Biology book series (MIMB, volume 1687)

Abstract

Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder that causes progressive weakness and wasting of skeletal muscular and myocardium in boys due to mutation of dystrophin. The structural integrity of each individual skeletal and cardiac myocyte is significantly compromised upon physical stress due to the absence of dystrophin. The progressive destruction of systemic musculature and myocardium causes affected patients to develop multiple organ disabilities, including loss of ambulation, physical immobility, neuromuscular scoliosis, joint contracture, restrictive lung disease, obstructive sleep apnea, and cardiomyopathy. There are some central nervous system-related medical problems, as dystrophin is also expressed in the neuronal tissues. Although principal management is to mainly delay the pathological process, an enhanced understanding of underlying pathological processes has significantly improved quality of life and longevity for DMD patients. Future research in novel molecular approach is warranted to answer unanswered questions.

Key words

Dystrophinopathy Disability Skeletal myopathy Respiratory failure Scoliosis Cardiomyopathy Transition of care to adult facility 

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Copyright information

© Springer Science+Business Media LLC 2018

Authors and Affiliations

  1. 1.Nemours Cardiac CenterNemours/Alfred I. duPont Hospital for ChildrenWilmingtonUSA
  2. 2.Sidney Kimmel Medical CollegeThomas Jefferson UniversityPhiladelphiaUSA

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