Results 81 to 90 of about 27,780 (97)
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2013
Duchenne muscular dystrophy (DMD) is a complex disease characterized by multiple physiologic perturbations, progressively leading to cardiomyopathy, respiratory failure, and, eventually, death. Patients with DMD create unique challenges for the anesthesia team, including management of a difficult airway, avoidance of volatile anesthetics and ...
Renee Nierman Kreeger, James P Spaeth
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Duchenne muscular dystrophy (DMD) is a complex disease characterized by multiple physiologic perturbations, progressively leading to cardiomyopathy, respiratory failure, and, eventually, death. Patients with DMD create unique challenges for the anesthesia team, including management of a difficult airway, avoidance of volatile anesthetics and ...
Renee Nierman Kreeger, James P Spaeth
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Facioscapulohumeral muscular dystrophy
Current Opinion in Neurology, 2009Knowledge of the pathogenetic mechanisms in facioscapulohumeral muscular dystrophy is still scattered, but has recently been advanced through novel developments on the genetic scientific front.The present brief review highlights some recent studies on the pathogenesis of facioscapulohumeral muscular dystrophy pointing to major involvement of muscle ...
Padberg, G.W.A.M., Engelen, B.G.M. van
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Oculopharyngeal Muscular Dystrophy
Seminars in Neurology, 1999Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease with worldwide distribution. It usually presents in the fifth or sixth decades with progressive dysphagia, eyelid ptosis, and proximal limb weakness. Unique intranuclear filament inclusions in skeletal muscle fibers are its morphological hallmark. Surgical correction
M. Fardeau +4 more
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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
Susan C. Brown, George Dickson
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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
Susan C. Brown, George Dickson
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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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Congenital muscular dystrophies
2001Abstract The clinical diversity of CMD is suggested by the different degrees of motor develop- mental delay, physical disability and muscle pathology, and by the variable presence of mental retardation. Most of the efforts aimed at delineating and subdividing the various CMD forms have originated from the International Consortium on CMD,
Eugenio Mercuri, Francesco Muntoni
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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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Facioscapulohumeral muscular dystrophy
2001Abstract The defining clinical features include the onset of weakness of the facial or shoulder girdle muscles, leading eventually to the wasting of these muscles (Fig. 8.1). Significant facial weakness is evident in more than half of all affected FSHD patients.
Meena Upadhyaya, David N. Cooper
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