Duchenne Muscular Dystrophy by Alan E. H. Emery

By Alan E. H. Emery

Duchenne Muscular Dystrophy, an inherited and innovative muscle losing illness, is likely one of the commonest unmarried gene issues present in the constructed international. during this fourth variation of the vintage monograph at the subject, Alan Emery and Francesco Muntoni are joined by way of Rosaline Quinlivan, advisor in Neuromuscular issues, to supply a radical replace on all facets of the disorder.

Recent realizing of the character of the genetic disorder answerable for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has resulted in the improvement of recent theories for the disease's pathogenesis. This re-creation contains those advances from the sphere of molecular biology, and describes the consequent possibilities for screening, prenatal analysis, genetic counselling and from fresh pioneering paintings with anti-sense oligonucleotides, the opportunity of powerful RNA remedy. even supposing there's nonetheless no therapy for the disease, there were major advancements in regards to the gene foundation, ebook of criteria of care guidance, and enhancements in administration resulting in considerably longer survival, really with cardio-pulmonary care. The authors additionally examine other kinds of pharmacological, mobile and gene therapies.

Duchenne Muscular Dystrophy may be crucial interpreting not just for scientists and clinicians, yet also will entice therapists and different execs desirous about the care of sufferers with muscular dystrophy.

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Multidisciplinary care. This resulted, for example, in better management of scoliosis and intercurrent respiratory infections. 3 years (Eagle et al. 2002) (see Fig. 9). More recent data from the same group showed continuing improvement in survival, with better outcomes for those who had scoliosis surgery and NIV, compared with those who were only offered NIV but not scoliosis surgery (Eagle et al. 2007). Similar research by Professor Anita Simonds in London indicated survival rates of 73% after 5 years in DMD patients treated with NIV (Simonds et al.

Increased survival of young adults with DMD is now increasingly being associated with reports of sudden death, suggesting that the surveillance of the cardiac conduction system also needs to be performed regularly in the older patients. In the personal experience of one of the authors (Emery), from data collected between 1965 and 1985, there were 14 autopsy reports of DMD where the primary causes of death were given as pneumonia (11), ‘respiratory failure’ (1), diphtheria at age 8 (1), and acute cardiac arrhythmia (1).

Although, by training, a neurologist and psychiatrist, most of Fig. 7 The late Professor Peter Emil Becker. 2 Landmarks in the history of DMD Nineteenth century DMD recognized as a specific clinical disorder (Conte and Gioja 1836; Meryon 1852; Duchenne 1861, 1868; Gowers 1879) 1955 BMD recognized as a distinct X-linked muscular dystrophy 1959–60 Serum creatine kinase (SCK) raised in patients and in female carriers 1978–83 DMD mapped to Xp21 by X/A translocations 1983–4 BMD and DMD shown to be allelic 1985 Gene-specific probes 1987–8 Gene deletions detected; complementary deoxyribonucleic acid (cDNA) cloned and sequenced Protein product (dystrophin) identified 1989–90 Dystrophin localization and functional studies begin Myoblast transfer experiments in mouse and humans First randomized controlled trials of glucocorticoids 1990–2 Gene transfer experiments in animal model 1992–4 Negative results of controlled studies on myoblast transfer in humans Identification of the dystrophin-like molecule utrophin Identification of the dystrophin-associated glycoprotein complex (DAPC) Proof of principle that antisense oligonucleotides can induce exon skipping and allow production of dystrophin in dystrophic cells, report on systematic use of non-invasive nocturnal ventilatory support on survival of DMD 1999 Possibility of stem cell therapy in animal models 2000–5 Systemic administration of antisense oligonucletotides in dystrophic animals Pharmacological read-through of non-sense mutations in DMD Phase I study of intramuscular plasmid delivery in DMD 2007 First report of use of antisense oligonucleotides to skip exon 51 administered intramuscularly in DMD boys 2008 Randomized, placebo-controlled study of a systemic drug to induce readthrough non-sense mutations in DMD boys 2010 First phase I study using intramuscular administration of adenoviral vector 2011 Two reports of dystrophin restoration after systemic administration of antisense oligonucleotides to skip exon 51 in DMD boys Phase I clinical trial using systemically delivered autologous mesoangioblast 2013 Results of randomized, placebo-controlled studies on systemic administration of antisense oligonucleotides to skip exon 51 Initiation of phase I studies to skip exons 44, 45, and 53 25 26 History of the disease his work was centred on human genetics.

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