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1995
Duchenne and Becker muscular dystrophy are X-linked muscle-wasting disorders that arise from mutations in the gene coding for dystrophin. The incidence of Duchenne muscular dystrophy (DMD) is approximately 1 in 3500 live male births, one-third of which are sporadic with no previous family history. In the absence of dystrophin, patients with DMD exhibit
G, Dickson, S C, Brown
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Duchenne and Becker muscular dystrophy are X-linked muscle-wasting disorders that arise from mutations in the gene coding for dystrophin. The incidence of Duchenne muscular dystrophy (DMD) is approximately 1 in 3500 live male births, one-third of which are sporadic with no previous family history. In the absence of dystrophin, patients with DMD exhibit
G, Dickson, S C, Brown
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Neurology India, 2008
AbstractDuchenne muscular dystrophy, an X‐linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s.
Yiu, Eppie M., Kornberg, Andrew J.
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AbstractDuchenne muscular dystrophy, an X‐linked disorder, has an incidence of one in 5000 boys and presents in early childhood with proximal muscle weakness. Untreated boys become wheelchair bound by the age of 12 years and die of cardiorespiratory complications in their late teens to early 20s.
Yiu, Eppie M., Kornberg, Andrew J.
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Facioscapulohumeral muscular dystrophy
Muscle & Nerve, 2006AbstractFacioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited disorder with an initially restricted pattern of weakness. Early involvement of the facial and scapular stabilizer muscles results in a distinctive clinical presentation. Progression is descending, with subsequent involvement of either the distal anterior leg or hip‐girdle ...
Rabi, Tawil, Silvère M, Van Der Maarel
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Oculopharyngeal muscular dystrophy
2010Publisher Summary Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscle disease associated with progressive ptosis of the eyelids, dysphagia, and unique tubulofilamentous intranuclear inclusions (INIs) in skeletal muscle. OPMD is usually transmitted as an autosomal dominant trait and a rarer allelic autosomal recessive form has also been ...
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2011
Distal muscular dystrophies are a group of inherited primary muscle disorders showing progressive weakness and atrophy preferentially in the hands, forearm, lower legs, or feet. Extensive progress in understanding the molecular genetic background has changed the classification and extended the list of confirmed entities to almost 20 different disorders,
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Distal muscular dystrophies are a group of inherited primary muscle disorders showing progressive weakness and atrophy preferentially in the hands, forearm, lower legs, or feet. Extensive progress in understanding the molecular genetic background has changed the classification and extended the list of confirmed entities to almost 20 different disorders,
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Progressive Muscular Dystrophy
Postgraduate Medicine, 1964There is at present no effective treatment for progressive muscu'ar dystrophy. The main hope for the future lies in the research now being conducted. The three common varieties are the Duchenne, limb-girdle and facioscapulohumeral types. Accurate classification is essential since they differ considerably in age of onset, rate of progress, and mode of ...
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Congenital Muscular Dystrophies
Neurologic Clinics, 1988The congenital muscular dystrophies are a group of genetic myopathies characterized by hypotonia, weakness, or arthrogryposis at birth. Classification is inadequate and based entirely upon phenotypic expression, because a genetic marker has not been identified in any of these disorders.
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Congenital muscular dystrophies
2013The congenital muscular dystrophies are a heterogeneous group of disorders in which weakness and dystrophic pattern on muscle biopsy are present at birth or during the first months of life. This chapter reviews the most common forms of congenital muscular dystrophies, including laminin α-2 (merosin) deficiency, Ullrich congenital muscular dystrophy ...
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Research in Muscular Dystrophy
Nature, 1970Treatment of the diseases known collectively as muscular dystrophy has not proved very successful. So far, the best results have been achieved by preventive medicine, although pathological and biochemical research is beginning to yield useful information.
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Rehabilitation of the muscular dystrophies
2013The muscular dystrophies (MD) are a heterogeneous group of inherited disorders characterized by findings on muscle biopsy. In general, they feature progressive muscle wasting and weakness. In addition to the musculoskeletal system, direct and indirect effects can be seen in a variety of organ systems.
Percival H, Pangilinan +1 more
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