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DUCHENNE'S MUSCULAR DYSTROPHY

Medical Journal of Australia, 1968
G. B. A. Duchenne's description of pseudohypertrophic muscular paralysis contains not only the first clear account of this disease, but also the first report of a practical instrument of muscle biopsy. Duchenne (1806-1875) was a French neurologist who was led to a careful study of neuromuscular diseases through his interest in the effects of ...
I A, Brody, R H, Wikins
openaire   +4 more sources

Duchenne and Becker Muscular Dystrophies

Neurologic Clinics, 2014
The 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.
Kevin M Flanigan
exaly   +3 more sources

Duchenne muscular dystrophy

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 ...
Hannah, Fox   +3 more
openaire   +2 more sources

Duchenne muscular dystrophy

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.
openaire   +3 more sources

Duchenne muscular dystrophy

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
openaire   +2 more sources

Casimersen for Duchenne muscular dystrophy

Drugs of Today, 2021
Duchenne muscular dystrophy (DMD) is a genetic disorder affecting 1 in 5,000 males which causes progressive muscle deterioration, loss of mobility and eventual death, with an average lifespan of around 25 years. While no cure currently exists for DMD, a novel treatment known as antisense-mediated exon skipping therapy has shown great promise.
H, Wilton-Clark, T, Yokota
openaire   +2 more sources

Golodirsen for Duchenne muscular dystrophy

Drugs of Today, 2020
Duchenne 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 ...
S, Anwar, T, Yokota
openaire   +2 more sources

Duchenne muscular dystrophy

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
openaire   +2 more sources

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