Duchenne Becker muscular dystrophy
Improved diagnosis of Duchenne/Becker muscular dystrophy
... The new molecular tests for DMD/BMD fall into two groups: those that examine dystrophin protein western blotting and immunofluorescence and those that study the gene Southern blotting wi[r] ...
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A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3
... a Becker phenotype, characterised by later onset and milder ...and muscular dystrophy and suggest that genomic background as well as the position of the mutation within the DMD gene may impact on the ...
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Adherence to American Academy of Pediatrics Recommendations for Cardiac Care Among Female Carriers of Duchenne and Becker Muscular Dystrophy
... RESULTS. The respondents included 833 Duchenne/Becker muscular dystrophy carri- ers, 376 noncarriers, and 192 women with unknown status. Carriers were more likely than noncarriers and women in ...
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Duchenne and Becker muscular dystrophy in adolescents: current perspectives
... Abstract: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are life-limiting and progressive neuromuscular conditions with significant comorbidities, many of ...
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Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers
... NT-proBNP was found to be significantly correlated with depressed LV function on echocardiography in a cohort of 28 wheelchair dependent DMD patients who were on a (non)invasive mechanical ventilator [11]. In contrast, ...
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Mitochondrial Dysfunction in Duchenne Muscular Dystrophy
... Several types of MD exist which vary in both severity and prevalence of the disease. Duchenne (DMD) and Becker Muscular Dystrophy (BMD) are two of the most common and severe forms of MD [1]. ...
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A comprehensive database of Duchenne and Becker muscular dystrophy patients (0–18 years old) in East China
... 26.3% of DMD patients in the database were treated with steroids. This rate was relatively low compared to that in the developed countries [16,31,32]. The main rea- son for this is due to the lack of awareness of ...
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Prevalence of Duchenne and Becker Muscular Dystrophies in the United States
... the Muscular Dystrophy Surveillance, Tracking, and Research Network for the Centers for Disease Control and Prevention, and reviewed and revised manuscript drafts; and all authors approved the fi nal ...
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Duchenne muscular dystrophy (DMD) detail study
... of muscular dystrophy and distinguish between inflammation or any other ...of muscular dystrophy for instance if no dystrophin is found it is confirmed to be Duchenne muscular ...
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Community-engaged approaches to explore research priorities in Duchenne and Becker muscular dystrophy
... Bladen CL, Salgado D, Monges S, Foncuberta ME, Kekou K, Kosma K, Dawkins H, Lamont L, Roy AJ, Chamova T, Guergueltcheva V, Chan S, Korngut L, Campbell C, Dai Y, Wang J, %DULãLü1%UDEHF3/DKGHWLH-:DOWHU0&6FKUHLEHU-Katz ...
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The golden retriever model of Duchenne muscular dystrophy
... progressive muscular dystrophy patients in their 1963 monograph [12] ...dystrophinopathy, Becker muscular dystrophy (BMD) (see below), and even more so, when compared to the other ...
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Clinical potential of ataluren in the treatment of Duchenne muscular dystrophy
... Abstract: Duchenne muscular dystrophy (DMD) is an autosomal dominant, X-linked neuromuscular disorder caused by mutations in dystrophin, one of the largest genes known to ...as Becker ...
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Challenges to oligonucleotides-based therapeutics for Duchenne muscular dystrophy
... disease Becker muscular dys- trophy (BMD), which results in a much milder pheno- type, is mainly caused by mutations maintaining the open reading frame and allowing the production of a partially deleted but ...
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Characteristics of Japanese Duchenne and Becker muscular dystrophy patients in a novel Japanese national registry of muscular dystrophy (Remudy)
... Remudy is intended to be used as a public service for the benefit of patients living with neuromuscular dis- eases. Through participation in the database, patients may be identified as candidates for upcoming clinical ...
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dystrophinopathies heterogeneous clinical aspects of Becker and Duchenne muscular dystrophy
... farction or cardiomyopathy. Elevated CK-BB can be found following epileptic seizures or following stroke. Elevated CK-MM is associated with neuromuscular diseases and in this chapter the focus will be on CK-MM which, if ...
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Clinical genetic aspects of Duchenne and Becker muscular dystrophy in the Netherlands
... naar Duchenne en Becker spierdystrofie in ...op Duchenne/Becker ...de Duchenne patiënt de eerste was in de familie toenam van 62% in de eerste periode naar 88% in de tweede ...de ...
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Serum Transaminase Levels in Boys With Duchenne and Becker Muscular Dystrophy
... biopsy, the results of which were nor- mal. Although none of the boys initially complained of weakness or myalgia, proximal weakness was evident in 4 of 5 boys (including 2 boys who showed diffi- culty climbing stairs). ...
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Cardiovascular Health Supervision for Individuals Affected by Duchenne or Becker Muscular Dystrophy
... ABSTRACT. Duchenne muscular dystrophy is the most common and severe form of the childhood muscular ...failure. Becker muscular dystrophy is less common and has a milder ...
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Clinical utility of serum biomarkers in Duchenne muscular dystrophy
... More recently, high throughput “omic” approaches were introduced to survey hundreds to thousands of pro- teins simultaneously in serum samples of DMD patients. These techniques confirmed the previously identified bio- ...
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Improving clinical trial design for Duchenne muscular dystrophy
... justifying the need for such a study to determine the effi- cacy of a therapeutic method. The clinical trials of the new emerging therapies have followed two different and ques- tionable[r] ...
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