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Duchenne and Becker Muscular Dystrophies
Neurologic Clinics, 2014The dystrophinopathies Duchenne and Becker muscular dystrophies (DMD and BMD) represent the most common inherited disorders of muscle. Improvements in cardiac care, attention to respiratory function, and judicious use of spinal correction surgery have led to increased survival in the DMD population.
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Golodirsen for Duchenne muscular dystrophy
Drugs of Today, 2020Duchenne muscular dystrophy (DMD) is a life-shortening X-linked genetic disorder characterized by progressive wasting and weakening of muscles in boys. Loss-of-function mutations in the DMD gene, which codes for dystrophin, lead to this disease. The majority of mutations in this gene result in the exclusion of one or more exons from the transcript ...
Saeed Anwar, Toshifumi Yokota
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Current Orthopaedics, 2007
In 1868, Guillaume Duchenne (1806–1875), working in Paris, described a ‘‘pseudohypertrophic paralysis y which deceives and deludes by giving the limbs the appearance of great muscularity’’. Duchenne muscular dystrophy (DMD) is the most common childhood neuromuscular disorder, was the first muscular dystrophy described, is incurable at present and is ...
Martin Gargan +2 more
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In 1868, Guillaume Duchenne (1806–1875), working in Paris, described a ‘‘pseudohypertrophic paralysis y which deceives and deludes by giving the limbs the appearance of great muscularity’’. Duchenne muscular dystrophy (DMD) is the most common childhood neuromuscular disorder, was the first muscular dystrophy described, is incurable at present and is ...
Martin Gargan +2 more
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JAMA: The Journal of the American Medical Association, 1976
To the Editor.— Dr Sadjadpour's observation (234:382, 1975) about the causes of toe walking in Duchenne muscular dystrophy certainly requires repeated emphasis and consideration in corrective surgical procedures. Toe walking does, indeed, precede contracture of the heel cords, and the unfortunate use of heel-cord lengthening commonly eliminates ...
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To the Editor.— Dr Sadjadpour's observation (234:382, 1975) about the causes of toe walking in Duchenne muscular dystrophy certainly requires repeated emphasis and consideration in corrective surgical procedures. Toe walking does, indeed, precede contracture of the heel cords, and the unfortunate use of heel-cord lengthening commonly eliminates ...
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American Heart Journal, 1977
DR. SHIRLEY RUBLER: The patient was a 23year-01d black male whose illness began in 1959 when, at age five years, his parents noticed leg weakness, difficulty i n climbing stairs, and increased size of calf muscles. He had two brothers, one of whom died at age 20 with a similar muscular disorder, and another with brain damage due to birth trauma.
Shirley Rubler +2 more
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DR. SHIRLEY RUBLER: The patient was a 23year-01d black male whose illness began in 1959 when, at age five years, his parents noticed leg weakness, difficulty i n climbing stairs, and increased size of calf muscles. He had two brothers, one of whom died at age 20 with a similar muscular disorder, and another with brain damage due to birth trauma.
Shirley Rubler +2 more
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On the Pathogenesis of Duchenne Muscular Dystrophy*
Developmental Medicine & Child Neurology, 1975SUMMARYThe relative merits of the three presently most active hypotheses (vascular, neurogenic, and myogenic) concerning the pathogenesis of Duchenne muscular dystrophy are analysed and discussed and the literature is comprehensively reviewed.ZUSAMMENFASSUNGZur Pathogenese der Duchenne'schen MuskeldystrophieDie entsprechenden Hauptpunkte der drei ...
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2017
Duchenne muscular dystrophy is a genetic disease inherited in an X-linked recessive pattern and characterized by the lack of the protein dystrophin. Boys with the genetic defect show symptoms of the disease at a young age, and symptoms progressively worsen and result in an early death.
Reed Estes, David Johannesmeyer
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Duchenne muscular dystrophy is a genetic disease inherited in an X-linked recessive pattern and characterized by the lack of the protein dystrophin. Boys with the genetic defect show symptoms of the disease at a young age, and symptoms progressively worsen and result in an early death.
Reed Estes, David Johannesmeyer
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Treatment of Duchenne's Muscular Dystrophy
JAMA: The Journal of the American Medical Association, 1982To the Editor.— The recent article by Crisp and colleagues (1982;247:478) and the accompanying editorial by Shelborne (1982;247:496), both of which emphasize the value of early diagnosis in Duchenne's muscular dystrophy (DMD), are highly commendable and may help to prevent needless tragedy and suffering.
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Duchenne muscular dystrophy [PDF]
, 1996 The disease affects males only; the number with this progressive condition is variable and ranges between one in every 1500 and one in every 7500. In the USA, Australia and Japan the average incidence of Duchenne muscular dystrophy is thought to be one in every 3300 live-born boys.
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