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Doctor insights on: Facts About Duchenne Muscular Dystrophy

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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

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 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

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

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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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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How does one acquire duchenne muscular dystrophy?

Bad genes: Duchenne type of muscular dystrophy is located on the x chromosome and is found in males. There are specific genetic tests that describe the disorder in detail. Women are carriers, and boys develop symptoms during early childhood. In utero testing is available. There is no cure, but early detection and possible use of steroids with appropriate therapy may modify the course. ...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 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 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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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 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 does "duchene muscular dystrophy" mean?

What does "duchene muscular dystrophy" mean?

Genetic muscle issue: Dmd is a genetic disorder in which there is a mutation in dystrophin, a structural protein found in muscle cell membrane. It causes progressive weakness that typically starts in the legs and pelvis, but eventually spreads throughout the body and also compromises breathing. There are symptomatic treatments, but no cure. ...Read more

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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

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Help please, what is muscular dystrophy?

Inborn muscle diseas: Nih website has lots of excellent information: http://www.Ninds.Nih.Gov/disorders/md/md.Htm "the muscular dystrophies (md) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of md are seen in infancy or childhood, while others may not appear until middle age or later. ". ...Read more

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What is progressive muscular dystrophy?

Muscle: It is a progressive disorder affecting the muscle causing weakness. ...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 national morbidity rate of duchenne muscular dystrophy?

Historically, DMD: results in loss of ambulation between 7-13 & demise in the teens-20's, but aggressive medical management can prolong ambulation & address cardiac & pulmonary complications to increase life-span to ~ 28 years. Families can find regional MDA/ALS Clinics by calling (800) 572-1717 or on http://mda.org/services/your-mda-clinic for optimal medical & mental health services. ...Read more

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