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Casimersen for Duchenne muscular dystrophy
Drugs of Today, 2021Duchenne 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
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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 ...
S, Anwar, T, Yokota
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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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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.
Spies, Stefan +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.
Spies, Stefan +3 more
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Biomarkers in Duchenne Muscular Dystrophy
Current Heart Failure Reports, 2022This review highlights the key studies investigating various types of biomarkers in Duchenne muscular dystrophy (DMD).Several proteomic and metabolomic studies have been undertaken in both human DMD patients and animal models of DMD that have identified potential biomarkers in DMD.
Theo, Lee-Gannon +3 more
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Biochemical Society Transactions, 1984
What is Duchenne muscular dystrophy? Duchenne muscular dystrophy is a muscle-wasting condition caused by the lack of a protein called dystrophin. It usually affects only boys. About 100 boys with Duchenne muscular dystrophy are born in the UK each year and there are about 2,500 boys and young men known to be living with the condition in the UK at any ...
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What is Duchenne muscular dystrophy? Duchenne muscular dystrophy is a muscle-wasting condition caused by the lack of a protein called dystrophin. It usually affects only boys. About 100 boys with Duchenne muscular dystrophy are born in the UK each year and there are about 2,500 boys and young men known to be living with the condition in the UK at any ...
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Current Opinion in Genetics & Development, 1991
Progress in understanding the role of dystrophin raises promising hopes for a treatment for Duchenne muscular dystrophy. In addition, great improvements have been made in the ability to diagnose this disease using simple molecular methods.
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Progress in understanding the role of dystrophin raises promising hopes for a treatment for Duchenne muscular dystrophy. In addition, great improvements have been made in the ability to diagnose this disease using simple molecular methods.
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Muscular fatigue in Duchenne muscular dystrophy
Neurology, 1995We used a 4-minute sustained maximum voluntary contraction to investigate fatigability of the anterior tibial muscle in eight healthy boys and 11 boys with Duchenne muscular dystrophy (DMD) (ages 5 to 10 years). Before exercise, the force generation of dystrophic muscle and the compound muscle action potential amplitude were lower and half-relaxation ...
K R, Sharma, M A, Mynhier, R G, Miller
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Screening for Duchenne muscular dystrophy
Pediatrics, 1977Recently, it has been suggested that all newborn male infants be screened for Duchenne muscular dystrophy (DMD) by measuring creatine phosphokinase (CPK) levels.1,2 One of the main arguments for this approach is that mothers of affected infants who have no known family history of DMD can be counseled.
A D, Roses, G A, Nicholson, C R, Roe
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Neuroblastoma in Duchenne Muscular Dystrophy
Pediatrics, 1986To the Editor.— In reporting two patients with neuroblastoma and cystic fibrosis, Moss et al1 noted that "reports of cystic fibrosis and other genetic abnormalities in individual patients are usually regarded as chance associations." We encountered an analogous situation in caring for a boy in whom stage III neuroblastoma ...
K M, Johnston +3 more
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