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Doctor insights on: Duchenne Muscular Dystrophy Dystrophin

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Dr. Kathryn Mosher
139 doctors shared insights

Muscular Dystrophy (Definition)

Muscular dystrophy includes a number of disorders which are associated primarily with abnormalities of the architecture of the cells, often causing changes in size and function (weakness). These disorders are typically inherited, and recognized early in life, although there are of course exceptions to this. Prognosis is based on the type of MD and expression ...Read more


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What sort of disorder is duchenne muscular dystrophy?

What sort of disorder is duchenne muscular dystrophy?

Muscle weakness: Dmd is a condition when muscles start to die prematurely. It starts in early childhood, leads to weakness of voluntary muscles such as those of hips, pelvic area, thighs and shoulders. Calves are often enlarged. Eventually it involves all muscles including that of heart and that control breathing. Life span is shortened to less than 30 years. It is a genetic condition primarily in boys. ...Read more

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What are the symptoms of duchenne muscular dystrophy?

Weakness...: ...More prominent in large muscles than in small ones, progressing to inability to stand up without assistance (see http://en.Wikipedia.Org/wiki/gower_maneuver ); muscles are enlarged early on ("pseudohypertrophy) but wither later. ...Read more

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What are medications for duchenne muscular dystrophy?

Steroids: Currently the mainstay of therapy for duchenne is still steroids. Steroids slow the progression of the disease but are not a cure. There are many promising therapies being tested, but so far no others available at this time. For more information visit mda.Org or duchenneconnect. ...Read more

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Could you explain what is duchenne muscular dystrophy?

See link below: "duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin. Because dystrophin is absent, the muscle cells are easily damaged. The progressive muscle weakness leads to serious medical problems, particularly issues relating to the heart and lungs." - see more at: http://www.Parentprojectmd.Org/site/pageserver?Pagename=understand_about#sthas. ...Read more

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How did our ancestors on the prairie treat duchenne muscular dystrophy?

How did our ancestors on the prairie treat duchenne muscular dystrophy?

They Didn't: Although today's treatment is very limited, our ancestors other than supportive devices, had no real therapy. ...Read more

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What mutation type causes duchenne muscular dystrophy?

What mutation type causes duchenne muscular dystrophy?

DMD is caused by: mutation of Xp21.2-p21.1, a large gene that encodes dystrophin, a muscle protein. Deletions in specific areas of the gene are associated with cognitive impairment, verbal memory, auditory comprehension, increased risk of ADHD & Autistic Spectrum Disorder. Each son of a carrier mom has a 50% chance of having DMD. Carrier girls can have muscle weakness, including heart. See mda.org & a geneticist. ...Read more

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What mutation type causes duchenne muscular dystrophy?

What mutation type causes duchenne muscular dystrophy?

Duchenne MD: Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). It is inherited in an X-linked recessive fashion, but it often occurs in people from families without a known family history of the condition. Children with the condition should be followed with a multi-specialist team approach ...Read more

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How genetically is duchenne muscular dystrophy is transmitted?

X linked: The gene for the abnormal protein is located on the x chromosome. Hence it is "x linked" . Mostly boys are affected. ...Read more

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Has a duchenne muscular dystrophy chromosome map been done yet?

Genetics: The molecular biology of dmd has been fairly well investigated at this time. The gene responsible for the disease codes for a mutated form of the protein called dystrophin. This gene is located on the x-chromosome. For more information on this go to http://www.Ncbi.Nlm.Nih.Gov/pubmedhealth/pmh0001724/. ...Read more

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Dr. Hank Chambers
46 doctors shared insights

Duchenne Muscular Dystrophy (Definition)

Muscular dystrophy includes a number of disorders which are associated primarily with abnormalities of the architecture of the cells, often causing changes in size and function (weakness). These disorders are typically inherited, and recognized early in life, although there are of course exceptions to this. Prognosis is based on the type of MD and expression ...Read more