The dystrophy of Duchenne.
نویسندگان
چکیده
Duchenne muscular dystrophy While the eponym, Duchenne muscular dystrophy (DMD), is applied to the most common and most severe muscular dystrophy of childhood, Duchenne was not the first to describe the condition. 10 years before Duchenne reported his first case of Duchenne dystrophy, the London physician Meryon had described the condition. However, Duchenne provided a comprehensive account of its clinical
منابع مشابه
P164: Adeno-Associated Viral Vectors in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...
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Background Duchenne Muscular Dystrophy (DMD) is a deadly X-linked recessive disorder. This genetic disorder affects 1 among 3,500-5,000 males in the world. The majority of the patients are male, due to the type of inheritance. It affects most of the skeletal, the respiratory, and cardiac muscles, causing these vital organs to contract and eventually mortality.<br...
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Smooth muscle degeneration may occur in Duchenne muscular dystrophy. We measured fasting orocaecal transit time in patients with advanced Duchenne muscular dystrophy and other muscular dystrophies and in healthy controls. No significant differences were found. In contrast to reports of gastric hypomotility in Duchenne muscular dystrophy, we found no evidence of impaired small intestinal motility.
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Duchenne muscular dystrophy mouse models have a predictable and reproducible time course of cardiomyopathy progression with discrete pathogenic steps, which closely parallel what we know occurs in the cardiomyopathy of patients with Duchenne muscular dystrophy. The slow progression of early pathogenic steps common to many cardiomyopathies may make Duchenne muscular dystrophy models useful for i...
متن کاملDystrophin analysis in the diagnosis of muscular dystrophy.
We present a family in which the differential diagnosis between X linked Duchenne muscular dystrophy and autosomal recessive Duchenne-like muscular dystrophy was resolved in favour of the latter by analysis of dystrophin, which is the protein product of the Duchenne muscular dystrophy locus.
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ورودعنوان ژورنال:
- Lancet
دوره 357 9255 شماره
صفحات -
تاریخ انتشار 2001