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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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Neuromuscular Disorders, 2004
Duchenne muscular dystrophy (DMD) is a common inherited disease with a worldwide incidence of 1 in 3,500 male births. Recent molecular study on the DMD gene identified a 14-kb mRNA encoded by 79 exons distributed over 2.5 million bp of the X-chromosome. The protein named dystrophin contains 3,685 amino acids. Most of the genetic events (mutations) that
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Duchenne muscular dystrophy (DMD) is a common inherited disease with a worldwide incidence of 1 in 3,500 male births. Recent molecular study on the DMD gene identified a 14-kb mRNA encoded by 79 exons distributed over 2.5 million bp of the X-chromosome. The protein named dystrophin contains 3,685 amino acids. Most of the genetic events (mutations) that
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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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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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Echocardiography in duchenne muscular dystrophy
Muscle & Nerve, 1980AbstractThe cardiac function of 36 males with Duchenne muscular dystrophy was evaluated by echocardiography, and the results were compared with the results of other tests of cardiac involvement, including serum creatine kinase isoenzyme evaluation, electrocardiography, chest x‐ray, and physical examination of the heart and lungs.
Dora Schievely +3 more
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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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2018
Duchenne’s muscular dystrophy (DMD) is a progressive X-linked recessive disorder that affects boys and female carriers. It is the most common dystrophy with onset in childhood in the United States. It is associated with severe, progressive proximal muscle weakening due to absence of dystrophin, which is found in skeletal and cardiac muscles This ...
Kirk Lalwani, Tori Sutherland
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Duchenne’s muscular dystrophy (DMD) is a progressive X-linked recessive disorder that affects boys and female carriers. It is the most common dystrophy with onset in childhood in the United States. It is associated with severe, progressive proximal muscle weakening due to absence of dystrophin, which is found in skeletal and cardiac muscles This ...
Kirk Lalwani, Tori Sutherland
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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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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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