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Doctor insights on: How Does Muscular Dystrophy Affect The Muscular System

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What is duchenne muscular dystrophy?

What is duchenne muscular dystrophy?

X-Linked Reces. MD: Duchenne dystrophy is inherited as an x-linked recessive trait, carried in women. It affects about 1in 3500 male births with no geographic/ethnic variation. About 1/3 of the cases are caused by new mutations, the others are familial. Diagnosis is usually evident from clinical features. The abnormality is in the cytoskeletal protein dystrophin. It is unclear why the lack of dystrophin ->findings. ...Read more

Dr. Kathryn Mosher
140 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 causes duchenne muscular dystrophy?

Genetic disorder: Duchenne's muscular dystrophy is an x linked genetic disorder causing abnormalities of the muscle fiber and eventual degeneration. ...Read more

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What causes duchenne muscular dystrophy?

Hereditary: It is inherited because of a defective gene on the x chromosome (female sex chromosome). It is referred to as a "sex-linked recessive" inheritance pattern. Girls get two x chromosomes, and the healthy one overrules the unhealthy gene, preventing girls from contracting the disorder. Boys get an x and a y. If the x has the defective gene, there is no corresponding gene on the y to overrule it. ...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?

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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Is there any way to prevent inheriting duchenne muscular dystrophy?

Abortion: The dystrophin gene can be detected in the fetus. If such testing proves the fetus is male and has the full defect, abortion is an option. There is no way to predict severity of the disorder. There is no way to prevent development of the disorder. Steroid therapy can be started early to try to modify the disorder. ...Read more

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I want to know what's the disease duchenne muscular dystrophy?

Muscle weakness: Duchenne muscular dystrophy is an inherited disorder that involves muscle weakness, which quickly gets worse. This condition primarily affects boys. ...Read more

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What is the definition or description of: Duchenne muscular dystrophy?

Duchenne muscular-: -Dystrophy or DMD is a genetic disorder. DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. DMD is characterized by progressive muscle weakness and degeneration. Symptom onset is usually between ages 3 and 5. The disease primarily affects boys, but in rare cases it can affect girls. ...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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What are some treatments for duchenne muscular dystrophy?

Medical Home: Children with severe muscle disease need a team approach that includes orthopedics, pulmonary, neurology, physiotherapy, gi, gu, and perhaps cardiology. These experts need to be coordinated through a team leader - usually a pediatrician who provides the medical home. ...Read more

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What is the genetic inheritance of duchenne muscular dystrophy?

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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What are the treatments available for duchenne muscular dystrophy?

See below: There are no known cures for duchenne muscular dystrophy, so treatments are aimed at improving symptoms and improving quality of life. Options include physical therapy, assisted ventilation, medications to help the heart. ...Read more

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What happens if we donot give steroids in Duchenne muscular dystrophy?

What happens if we donot give steroids in Duchenne muscular dystrophy?

It is recommended: To begin corticosteroids early to slow the loss of muscle strength, though they may improve muscle strength if started when the child begins to decline. Most boys with DMD are wheelchair-bound by age 10-12 years. In many cases oral steroids prolong ambulation by 1-3 years. Join Muscular Dystrophy Association India, http://www. Mdindia. Org for information & support. ...Read more