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Topic: Duchenne muscular dystrophy


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MDA

  
  MedlinePlus Medical Encyclopedia: Duchenne muscular dystrophy
Duchenne muscular dystrophy is an inherited disorder characterized by rapidly progressive muscle weakness which starts in the legs and pelvis and later affects the whole body.
Duchenne muscular dystrophy is a rapidly progressive form of muscular dystrophy.
Duchenne muscular dystrophy is inherited in an X-linked recessive pattern.
www.nlm.nih.gov /medlineplus/ency/article/000705.htm   (885 words)

  
 DMD Fund - Duchenne Muscular Dystrophy Info
Muscular dystrophy is always a genetic disorder, which means that it always results from a gene defect.
Duchenne MD is typically diagnosed in boys between the ages of 3 and 7.
However once a child with Duchenne MD is born into a family, it is possible to offer prenatal diagnosis in future pregnancies, either for the mother or for other women in her family who may be at risk of being carriers of the damaged X-chromosome.
www.dmdfund.org /dmd_duchenne_muscular_dystrophy.html   (3668 words)

  
 DMD DUCHENNE MUSCULAR DYSTROPHY   (Site not responding. Last check: 2007-10-12)
The muscular dystrophies are a group of muscle diseases which have three features in common: they are hereditary; they are progressive; and each causes a characteristic, selective pattern of weakness.
Unless a boy with DMD is known to be at risk because of his family history, he is unlikely to be diagnosed before the age of 2 or 3 years.
DMD and BMD are due to defects in the same gene, which is now known to be the dystrophin gene, on the X chromosome.
www.mda.org.au /specific/mdadmd.html   (2382 words)

  
 Treatment of Duchenne Muscular Dystrophy
Every Duchenne patient should be checked by a cardiologist from 8 years on, with echocardiography at age 10, with angiography at age 12 and then repeated every year, these check-ups and an appropriate treatment of any cardiac symptoms could increase the quality of life.
As dystrophin is missing in Duchenne patients, this large protein has to be delivered to the inner face of the muscle cell membrane where it plays a role in stabilizing the membrane against mechanical stress in a complex with other dystrophin-associated proteins.
Duchenne patients have a functional utrophin gene on chromosome 6 and small amounts of this protein in their muscles, especially at the neuromuscular junction.
www.duchenne.nl /nieuw/wetenschappers/meeting.html   (5114 words)

  
 Foundation to Eradicate Duchenne, Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD) - An x-linked hereditary disease characterized by the absence of a protein known as dystrophin which causes degeneration and necrosis of skeletal muscle fibres.
Muscular Dystrophy (MD) - refers to a group of genetic myopathies in which a muscle protein is absent, deficient or abnormal.
Muscular dystrophies are myopathies in which a genetic defect results in structural damage to the muscle.
www.duchennemd.org /duchenne_glossary.htm   (3295 words)

  
 Duchenne Muscular Dystrophy   (Site not responding. Last check: 2007-10-12)
Duchenne's muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy and is considered the most common lethal pediatric disorder worldwide (Hoffman et al., 1996).
The cause of Duchenne's muscular dystrophy was identified as the mutated form of the dystrophin gene.
However, DMD detection in cases with high mutational rates (complicates molecular diagnostics and genetic counseling), and isolated female carriers of DMD with no deletion mutation is very difficult (Hoffman et al., 1999).
dragon.zoo.utoronto.ca /~jlm2001/J01T0701A/duchenne.html   (639 words)

  
 Muscular dystrophy, Duchenne and Becker types - Genetics Home Reference   (Site not responding. Last check: 2007-10-12)
Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting.
The Duchenne and Becker types of muscular dystrophy primarily affect the skeletal muscles, which are used for movement, and the muscles of the heart.
Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused by mutations in the same gene.
ghr.nlm.nih.gov /condition=musculardystrophyduchenneandbeckertypes   (884 words)

  
 Duchenne Muscular Dystrophy Information on Healthline
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are both defined by progressive muscle weakness and atrophy.
Symptoms of Duchenne muscular dystrophy usually begin in childhood, and boys with DMD are often in wheelchairs by the age of 12 years.
Duchenne and Becker muscular dystrophy are both caused by mutations in the DMD gene on the X chromosome.
www.healthline.com /galecontent/duchenne-muscular-dystrophy   (1071 words)

  
 Duchenne Muscular Dystrophy - WrongDiagnosis.com
Duchenne muscular dystrophy (DMD) is one of a group of muscular dystrophies characterized by the enlargement of muscles.
DMD is one of the most prevalent types of muscular dystrophy and is characterized by rapid progression of muscle degeneration that occurs early in life.
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy.
www.wrongdiagnosis.com /d/duchennemd/intro.htm   (1024 words)

  
 Muscular Dystrophy
Muscular dystrophy (MD) is a genetic disorder that gradually weakens the body's muscles.
Muscular dystrophy is often degenerative, so kids may pass through different stages as the disease progresses and require different kinds of treatment.
Many children who have the Duchenne and Becker forms of muscular dystrophy develop severe scoliosis - an S- or C-shaped curvature of the spine that develops when the back muscles are too weak to hold the spine erect.
kidshealth.org /parent/medical/bones/muscular_dystrophy.html   (1762 words)

  
 Muscular Dystrophy
Muscular dystrophy is the term used to describe a group of inherited disorders that cause progressive muscle weakness.
Treatment of muscular dystrophy is mainly directed at preventing the complications of weakness, including decreased mobility and dexterity, contractures, scoliosis, heart defects, and respiratory weaknesses.
The selection of anesthesia is critical in muscular dystrophy patients because of the possibility of malignant hyperthermia, a severe reaction to halothane anesthetic.
www.hmc.psu.edu /healthinfo/m/musculardystrophy.htm   (1686 words)

  
 Muscular Dystrophy, Duchenne
Duchenne Muscular Dystrophy, a hereditary degenerative disease of skeletal (voluntary) muscles, is considered the most prevalent form of childhood muscular dystrophy.
Duchenne Muscular Dystrophy is initially characterized by muscle weakness and wasting (atrophy) within the pelvic area that may be followed by involvement of the shoulder muscles.
Duchenne Muscular Dystrophy is caused by changes (mutations) of a gene on the short arm (p) of chromosome X (Xp21.2).
www.webmd.com /hw/health_guide_atoz/nord37.asp   (729 words)

  
 2,000 Lost Boys with Duchenne Muscular Dystrophy
The DMD Registry is a national DMD database for clinicians, health professionals and researchers to help accelerate the development and delivery of new treatments for Duchenne and Becker muscular dystrophies (DMD and BMD) by providing an easier path to clinical trials in the UK.
DMD is a severe genetic muscle wasting disease that will mean boys will be in wheelchairs by 10 and without treatment will die in their late teens.
PPUK was set up by parents of boys with Duchenne muscular dystrophy in 2001 and has since been instrumental in setting up a consortium of researchers to develop the first clinical trial for a Gene Therapy in the UK.
www.prweb.com /releases/2006/8/prweb418860.htm   (1090 words)

  
 Types of Muscular Dystrophy - Nervous System Diseases
Muscular dystrophy is a group of inherited diseases that are characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue.
There are nine types of muscular dystrophy, but in each type there is an eventual loss of strength, increasing disability, and possible deformity.
Duchenne - age at onset: two to six years; symptoms include general muscle weakness and wasting; affects pelvis, upper arms, and upper legs; eventually involves all voluntary muscles; survival beyond 20s is rare.
www.umm.edu /nervous/musctype.htm   (515 words)

  
 eMedicine - Muscular Dystrophy : Article by Twee Do, MD   (Site not responding. Last check: 2007-10-12)
Duchenne MD is the most common condition, and being sex-linked, it has an inheritance pattern of 1 case per 3500 live male births.
Clinical: In Duchenne MD, unless a sibling has been previously affected to warrant a high index of suspicion, no abnormality is noted in the patient at birth, and manifestations of the muscle weakness do not begin until he or she begins to walk.
Duchenne MD is a terminal disease in which death usually occurs by the third decade of life (mostly from cardiopulmonary compromise).
www.emedicine.com /orthoped/topic418.htm   (5752 words)

  
 Duchenne Muscular Dystrophy - Jesse's Journey - The Foundation for Gene and Cell Therapy   (Site not responding. Last check: 2007-10-12)
Researchers at Children's Hospital have discovered a unique population of muscle-derived stem cells with the potential to repair damaged tissue in muscular dystrophy patients.
Huard is internationally known for his work on Duchenne muscular dystrophy, a disease that strikes boys and results in premature death, usually by age 25.
In the study, Dr. Huard's team injected a unique population of stem cells into the blood of mice with a muscle condition similar to Duchenne muscular dystrophy.
www.duchennemusculardystrophy.info   (840 words)

  
 Duchenne muscular dystrophy definition - Medical Dictionary definitions of popular medical terms
DMD typically appears between the ages of two with weakness in the pelvis and upper limbs, resulting in clumsiness, frequent falling, an unusual gait and general weakness.
Duchenne was the first to do a biopsy to obtain tissue from a living patient for microscopic examination.
Duchenne used his biopsy needle on boys with DMD and concluded correctly that the disease was one of muscle.
www.medterms.com /script/main/art.asp?articlekey=11686   (471 words)

  
 eMJA: Duchenne muscular dystrophy: hopes for the sesquicentenary   (Site not responding. Last check: 2007-10-12)
Duchenne devised a muscle biopsy needle and established that hyperplasia of fibrous connective tissue and destruction of the muscle cytoarchitecture (arrangement of cells) are key abnormalities.
Clinicians established the clinical heterogeneity of the muscular dystrophies, and various disorders were identified, including facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy and myotonic dystrophy.
Mutations that shorten the a helix cause Becker muscular dystrophy.
www.mja.com.au /public/issues/179_09_031103/byr10494_fm.html   (1361 words)

  
 Duchenne parent project - Duchenne muscular dystrophy
Introduction to Duchenne MD "Muscular Dystrophy" is a broad term used to label gene-related disorders that affect muscles throughout the body.
All forms of Muscular Dystrophy are considered rare, but Duchenne Muscular Dystrophy is perhaps the most common of the Muscular Dystrophies in existence.
What causes Duchenne MD Within our gene makeup, there is an important muscle protein called 'dystrophin' which is one of the largest genes found to date.
www.duchenne.nl /english/duchenne241.html   (378 words)

  
 Duchenne muscular dystrophy - Wikipedia, the free encyclopedia
Duchenne dystrophy is a type of dystrophinopathy which includes a spectrum of muscle disease caused by mutations in the DMD gene, which encodes the protein dystrophin.
Daughters of men with Duchenne will always be carriers, since they will inherit an affected X chromosome from their father (note that the diagram only shows the results from an unnaffected father).
Duchenne muscular dystrophy is caused by a mutation of the dystrophin gene whose protein product is responsible for linking the actin filaments of muscle fibres to the extracellular matrix through a protein complex containing many subunits.
en.wikipedia.org /wiki/Duchenne_muscular_dystrophy   (1705 words)

  
 DMD Fund - Duchenne Muscular Dystrophy Fund
DMD is a worldwide tragedy; kids of all colors, all nationalities, all classes, and all ethnic backgrounds die much too young, agonizingly, slowly, and painfully, from DMD.
And last, and most important, our heartfelt thanks to the DMD families who came and so generously and openly shared their experiences with DMD so that those of the CSJ guests, volunteers and sponsors who were unfamiliar with the toll this deadly disease takes on families could take a measure of understanding with them.
The incidence of DMD is 1 in ~3,000 male births.
www.dmdfund.org   (1707 words)

  
 Muscular Dystrophy Canada | Duchenne muscular dystrophy
DMD is caused by a change in the dystrophin gene.
If genetic testing shows that the mother of a boy with DMD is a DMD carrier, then her sisters may also be DMD carriers., They should be informed of this risk and encouraged to seek genetic counseling, particularly if they are planning to have children.
Talking to children about DMD may be difficult, but it is important for them to have some information about their (or their brother's) condition.
www.muscle.ca /content/index.php?id=154   (1961 words)

  
 Duchenne muscular dystrophy
DMD is one of the most prevalent types of muscular dystrophy and is characterized by rapid progression of muscle degeneration which occurs early in life.
A mouse model for DMD exists, and is proving useful for furthering our understanding on both the normal function of dystrophin and the pathology of the disease.
In particular, initial experiments that increase the production of utrophin, a dystrophin relative, in order to compensate for the loss of dystrophin in the mouse are promising, and may lead to the development of effective therapies for this devastating disease.
www.ncbi.nlm.nih.gov /disease/DMD.html   (227 words)

  
 Healthopedia.com - Duchenne Muscular Dystrophy (Pseudohypertrophic Muscular Dystrophy)
Duchenne muscular dystrophy is an inherited disorder of the muscles.
Duchenne muscular dystrophy occurs in about 1 in 3500 males.
The risk of developing Duchenne muscular dystrophy depends on a variety of genetic factors.
www.healthopedia.com /duchenne-muscular-dystrophy   (408 words)

  
 Muscular dystrophy - MayoClinic.com
Muscular dystrophy (MD) is a group of rare inherited muscle diseases in which muscle fibers are unusually susceptible to damage.
In some types of muscular dystrophy, heart muscles, other involuntary muscles and other organs are affected.
The most common types of muscular dystrophy appear to be due to a genetic deficiency of the muscle protein dystrophin.
www.mayoclinic.com /health/muscular-dystrophy/DS00200   (199 words)

  
 Muscular dystrophy - Wikipedia, the free encyclopedia
The muscular dystrophies are a group of genetic and hereditary muscle diseases; characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue.
The muscular dystrophies are the most-known hereditary diseases.
The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine, phenytoin or mexiletine.
en.wikipedia.org /wiki/Muscular_dystrophy   (321 words)

  
 Duchenne Muscular Dystrophy -- Biggar 27 (3): 83 -- Pediatrics in Review
DMD is caused by a mutation of the X-linked gene that encodes
DMD is an X-linked recessive disorder affecting primarily skeletal
A boy who has DMD exhibits the Gower maneuver, in which he uses his hands to push off his thighs to rise up from the floor.
pedsinreview.aappublications.org /cgi/content/full/27/3/83?rss=1   (2077 words)

  
 Duchenne Muscular Dystrophy - Wheeless' Textbook of Orthopaedics
Advantage of early spinal stabilization and fusion in patients with Duchenne muscular dystrophy.
The effect of spine fusion on respiratory function in Duchenne muscular dystrophy.
Steroid Treatment and the Development of Scoliosis in Males with Duchenne Muscular Dystrophy.
www.wheelessonline.com /ortho/duchenne_muscular_dystrophy   (402 words)

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