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Doctor insights on: Treatment Muscular Dystrophy

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What causes duchenne muscular dystrophy?

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

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?

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 is progressive muscular dystrophy?

What is progressive muscular dystrophy?

Muscle: It is a progressive disorder affecting the muscle causing weakness. ...Read more

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How are duchennes muscular dystrophy and myotonic muscular dystrophy different?

How are duchennes muscular dystrophy and myotonic muscular dystrophy different?

Amount of Dystrophin: The two conditions differ in their severity, age of onset, and rate of progression. Mutations in the dmd gene cause duchenne and becker forms of muscular dystrophy (dmd and bmd, respectively). Mutations that lead to an abnormal version of dystrophin that retains some function usually cause bmd, while mutations that prevent the production of any functional dystrophin causes dmd. ...Read more

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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

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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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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 causes muscular dystrophy?

What causes muscular dystrophy?

Genetic disorder: There are different forms. Most common is duchenne that occurs in males but woman are carriers. Other forms are highly genetic such as fsh and myotonic dystrophy and the spectrum of sma. Genetic markers are available. ...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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What is muscular dystrophy?

Muscle disease: Muscular dystrophy is a worsening disorder that causes muscle weakness. The worst kind is duchenne's dystrophy, that affects only boys, leads to severe weakness, and wheelchair needs, breathing difficulties in the teens. Milder forms can present later or not cause as much disability. These are genetic (runs in families) disorders. ...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 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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Please help! what is the difference between duchennes muscular dystrophy and myotonic muscular dystrophy?

Good question.: The long answer reqires that you go to the internet so you can look at the typical facial features of myotonic dystrophy. The two conditions are not similar in presentaion. You should go with the long answer. ...Read more

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What are the differences between duchennes muscular dystrophy and myotonic muscular dystrophy?

Both are inherited: neuromuscular disorders. DMD is caused by mutatation(s) on Chr. X. Onset of rapidly progressive muscle atrophy starts early in boys. Female carriers can have heart muscle disease. MD 1 is caused by mutant genes on Chr. 19; MD 2 by mutant genes on Chr. 3, Each child of a parent affected by either has a 50% chance of inheriting it, often with earlier & more severe symptoms than the parent's. ...Read more

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What is pseudohypertrophic muscular dystrophy?

Big muscles: In some muscular dystophies some muscles are enlarged like in a weight lifter, though they are weak. ...Read more

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How can one differentiate between duchenne muscular dystrophy and spinal muscular atrophy?

Diagnostics: Muscle biopsy or EMG will be able to differentiate. Presenting symptoms may lead one to be suspected more than the other as well. ...Read more

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How serious is muscular dystrophy?

It is different: It is different from one person to the other and what type of muscular dystrophy the person has. Some patients have a mild form of the disease and some of the muscular dystrophies can be associated with heart involvement and breathing difficulties, so it could be serious. ...Read more

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What type of genetic disorder is the duchenne muscular dystrophy?

"X-Linked recessive": This means that the problem causing this disease is carried on the x chromosome. Women have 2 of these, men just one. If a boy has an x chromosome that has this genetic defect, there is no other dna to "cover" this up and that boy will have the disease. Women have 2 copies of dna, and only can be carriers. Mothers can then pass this problem on to their sons, however. ...Read more

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How come duchenne muscular dystrophy considered a genetic disorder?

Mutated gene in X : Duchenne muscular dystrophy is caused by an abnormal gene in x chromosome, and is inherited as an x-linked recessive trait. ...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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