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BMJ, 2020
### What you need to know Duchenne muscular dystrophy (DMD) is a progressive and disabling neuromuscular condition that is often diagnosed late.1 In the UK the mean age of diagnosis has remained fairly static over the past 30 years, currently around 4.3 years of age.2 On average it takes 1.6 years from first parental concern to diagnosis of DMD,2 by ...
Luke Millington +3 more
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### What you need to know Duchenne muscular dystrophy (DMD) is a progressive and disabling neuromuscular condition that is often diagnosed late.1 In the UK the mean age of diagnosis has remained fairly static over the past 30 years, currently around 4.3 years of age.2 On average it takes 1.6 years from first parental concern to diagnosis of DMD,2 by ...
Luke Millington +3 more
openaire +2 more sources
Reproduction in Duchenne dystrophy [PDF]
Neurology, 1978 A man with Duchenne muscular dystrophy fathered two living children. He was 1 of 10 affected males in 5 generations. Clinical and genetic patterns, muscle biopsies, autopsy results, and serum enzymes were all compatible with the diagnosis of Duchenne muscular dystrophy.
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Current Treatment Options in Neurology, 2001
Duchenne muscular dystrophy (DMD) is not treatable; there is no cure. More than a decade ago, randomized trials demonstrated that oral steroid therapy was of benefit to DMD patients by prolonging ambulation. Although few significant side effects were reported, study patients were followed for 18 months or less. However, when treating DMD with steroids,
Susan T. Iannaccone, Zohair Nanjiani
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Duchenne muscular dystrophy (DMD) is not treatable; there is no cure. More than a decade ago, randomized trials demonstrated that oral steroid therapy was of benefit to DMD patients by prolonging ambulation. Although few significant side effects were reported, study patients were followed for 18 months or less. However, when treating DMD with steroids,
Susan T. Iannaccone, Zohair Nanjiani
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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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BMJ, 2010
I was diagnosed with Duchenne muscular dystrophy at the age of 3. My parents were always honest about my disease, but I didn’t really care much about it. As the progression was slow, I gradually began to understand its impact, including the physical restrictions. I’m now severely disabled and have lived much longer than the doctors expected.
Frans Nollet +3 more
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I was diagnosed with Duchenne muscular dystrophy at the age of 3. My parents were always honest about my disease, but I didn’t really care much about it. As the progression was slow, I gradually began to understand its impact, including the physical restrictions. I’m now severely disabled and have lived much longer than the doctors expected.
Frans Nollet +3 more
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Witnessed inclusion improves identification of Duchenne and non‐Duchenne smiles
British Journal of Developmental Psychology, 2022AbstractSocial exclusion threatens a person's need to belong and prompts them to behave in ways that often facilitate reaffiliation. For adults, direct exclusion increases attention to social information and facial cues, including an enhanced identification of Duchenne and non‐Duchenne smiles.
Paige Fischer, Krisztina V. Jakobsen
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Duchenne muscular dystrophy and epilepsy
Neuromuscular Disorders, 2013Cognitive and behavioral difficulties occur in approximately a third of patients with Duchenne muscular dystrophy. The aim of our study was to assess the prevalence of epilepsy in a cohort of 222 DMD patients. Epileptic seizures were found in 14 of the 222 DMD patients (6.3%). The age of onset ranged from 3 months to 16 years (mean 7.8).
Pane M +16 more
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JAMA: The Journal of the American Medical Association, 1982
Duchenne's muscular dystrophy (DMD) is a progressive muscle disease that inexorably results in death at about the age of 20 years. Unfortunately, there is no effective therapy for this disease. It is an X-linked recessive disorder that almost exclusively occurs in boys. Classic clinical signs are recognized around the age of 3 to 5 years. The diagnosis
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Duchenne's muscular dystrophy (DMD) is a progressive muscle disease that inexorably results in death at about the age of 20 years. Unfortunately, there is no effective therapy for this disease. It is an X-linked recessive disorder that almost exclusively occurs in boys. Classic clinical signs are recognized around the age of 3 to 5 years. The diagnosis
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Journal of the American Academy of Orthopaedic Surgeons, 2002
Duchenne muscular dystrophy is an X-linked disease of muscle caused by an absence of the protein dystrophin. Affected boys begin manifesting signs of disease early in life, cease walking at the beginning of the second decade, and usually die by age 20 years. Until treatment of the basic genetic defect is available, medical, surgical, and rehabilitative
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Duchenne muscular dystrophy is an X-linked disease of muscle caused by an absence of the protein dystrophin. Affected boys begin manifesting signs of disease early in life, cease walking at the beginning of the second decade, and usually die by age 20 years. Until treatment of the basic genetic defect is available, medical, surgical, and rehabilitative
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Pediatrics In Review, 2006
1. W. Douglas Biggar, MD* 1. *Professor of Paediatrics, University of Toronto, Bloorview Macmillan Children’s Centre, Toronto, Ontario, Canada After completing this article, readers should be able to: 1. Describe the pathogenesis of Duchenne muscular dystropy (DMD). 2. Describe the natural history and late complications of DMD. 3.
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1. W. Douglas Biggar, MD* 1. *Professor of Paediatrics, University of Toronto, Bloorview Macmillan Children’s Centre, Toronto, Ontario, Canada After completing this article, readers should be able to: 1. Describe the pathogenesis of Duchenne muscular dystropy (DMD). 2. Describe the natural history and late complications of DMD. 3.
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