| Chapter title |
Clinical Manifestations and Overall Management Strategies for Duchenne Muscular Dystrophy
|
|---|---|
| Chapter number | 2 |
| Book title |
Duchenne Muscular Dystrophy
|
| Published in |
Methods in molecular biology, January 2018
|
| DOI | 10.1007/978-1-4939-7374-3_2 |
| Pubmed ID | |
| Book ISBNs |
978-1-4939-7373-6, 978-1-4939-7374-3
|
| Authors |
Takeshi Tsuda, Tsuda, Takeshi |
| 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. |
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