FAQ - Muscular Dystrophy, Duchenne
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Where does duchenne muscular dystrophy strike most?


I need information on duchenne muscular dystrophy, where does it strike most? Like, what part of the body does it affect the most? What new information from scientists is there that has to do with duchenne muscular dystrophy? How far are they in the research?
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Duchenne muscular dystrophy (DMD) is a severe recessive X-linked form of muscular dystrophy characterized by rapid progression of muscle degeneration, eventually leading to loss of ambulation and death. This affliction affects one in 3500 males, making it the most prevalent of muscular dystrophies. In general, only males are afflicted, though females can be carriers. Females may be afflicted if the father is afflicted and the mother is also a carrier/ affected. The disorder is caused by a mutation in the gene DMD, located in humans on the X chromosome (Xp21). The DMD gene codes for the protein dystrophin, an important structural component within muscle tissue. Dystrophin provides structural stability to the dystroglycan complex (DGC), located on the cell membrane.

Symptoms usually appear in male children before age 5 and may be visible in early infancy. Progressive proximal muscle weakness of the legs and pelvis associated with a loss of muscle mass is observed first. Eventually this weakness spreads to the arms, neck, and other areas. Early signs may include pseudohypertrophy (enlargement of calf and deltoid muscles), low endurance, and difficulties in standing unaided or inability to ascend staircases. As the condition progresses, muscle tissue experiences wasting and is eventually replaced by fat and fibrotic tissue (fibrosis). By age 10, braces may be required to aid in walking but most patients are wheelchair dependent by age 12. Later symptoms may include abnormal bone development that lead to skeletal deformities, including curvature of the spine. Due to progressive deterioration of muscle, loss of movement occurs eventually leading to paralysis. Intellectual impairment may or may not be present but if present, does not progressively worsen as the child ages. The average life expectancy for patients afflicted with DMD varies from late teens to early to mid 20s. There have been reports of a few DMD patients surviving to the age of 40, but this is extremely rare  (+ info)

Hallo ! I have 2 sons and they are sick with Duchenne Muscular Dystrophy sickness. Is there any cure for that?


I have two sons. They have Duchenne Muscular Dystrophy sickness. Elder is 6 years old, and the younger 2 years. Doctors say that there is no treatment for this sickness nowadays and they will live no more than their 14-16 ages. Is this true. Is there anyone who knows if anyone having this sickness was cured positively ? Thank you very much for your answers.
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I am very sorry for the diagnosis presented to you.
I hate to confirm it is true, however, survival rate is sometimes around 25 years, not 14/16. It depends on each case.
I hope that by the time they are 14 though, advances permit them to recover.

I wish you the best of luck.  (+ info)

Duchenne muscular dystrophy what chromosome number is affected with this disease?


all i need to know is what the chromosome number is for duchenne muscular dystrophy
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Its the x chromosome  (+ info)

How was Duchenne Muscular Dystrophy discovered?


I know who discovered it (French neurologist Guillaume Duchenne) and when (1860's), but how? Please tell me, but don't use wikipedia my teachers are paranoid about that!
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The disease is named for the pioneering 19th century French neurologist Guillaume Benjamin Amand Duchenne. After graduating in medicine, he practiced in the provinces but returned to Paris in 1842 to pursue medical research where he became known under the name of Duchenne de Boulogne to avoid confusion with edouard Adolphe Duchesne, a fashionable society physician. Duchenne was a diligent clinical investigator, meticulous in recording the patient's history. He followed his patients from hospital to hospital to complete his studies. In this way he developed an exceptionally rich resource of clinical research material, far superior to that available to a single physician or hospital. Duchenne described a boy with the form of muscular dystrophy that now bears his name in the 1861 edition of his book "Paraplegie hypertrophique de l'enfance de cause cerebrale." A keen photographer, he depicted his patient a year later in his "Album de photographies pathologiques." In 1868 he gave an account of 13 affected children under the designation "paralysie musculaire pseudohypertrophique." The term "pseudohypertrophic" stuck to this form of muscular dystrophy. Duchenne was the first to do a biopsy to obtain tissue from a living patient for microscopic examination. This aroused a deal of controversy in the lay press concerning the morality of examining living tissues. Duchenne used his biopsy needle on boys with DMD and concluded correctly that the disease was one of muscle.  (+ info)

Why might Duchenne muscular dystrophy appear in some body regions but not others?


Duchenne muscular dystrophy is one of the most known types of muscular dystrophy and it may appear in some body regions and not others because of the gene that was passed down from the mother. Every girl has the gene of muscular dystrophy and my cousin died of it 6 years ago when he was 13. The body region that is effected is effected randomly. No one chooses where it may appear at  (+ info)

If you are a male diagnosed with Duchenne Muscular Dystrophy is it possible to have kids?


My boyfriend is diagnosed with this disease and would like kids someday but is not sure if that is EVEN possible or IF he even could, will there be a chance his offspring could get this as well? If that is the case he wouldn't even chance it as he does not want anybody else to go through what he has.
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Yes, it is possible for him to father children. However, it would be highly advisable for you to have some genetic counselling/testing to ensure you are not carrier of the condition as if you are, then you have a one in four chance of having a son with the condition and one in two chance of having a daughter who is a carrier. You may think that there is no history of MD in your family but you never know.  (+ info)

Why is Duchenne Muscular Dystrophy considered a genetic disorder?


Someone close to me has this disease, but i can't find anywhere why it's considered genetic. Could someone please help me out?
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DMD is caused a mutation in the gene for dystrophin, which is located on the X chromosome. Becker muscular dystrophy is also caused by mutations in the same gene, but it is considered milder than DMD. The type of mutation determines if the personal will have DMD or BMD. Go the Muscular Dystrophy Association website to learn more about it (www.mda.org).  (+ info)

Where can i get more information about duchenne muscular dystrophy research ?


I am interested to be a patient involved in clinical trials. I need to know about research being done worldwide...pls help ?
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www.webmd.com

www.google.com and type in what you want to know..  (+ info)

What is the average lifespan of an affected person for Duchenne Muscular Dystrophy?


Give the website where you found the information.
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survival rate rare beyond late twenties. average is 20.  (+ info)

What is the genetic way Duchenne Muscular Dystrophy is transmitted?


Duchenne Muscular Dystrophy is an inherited disorder caused by a mutation in the gene that produces dystrophin. This mutation is passed down from mother to son because the dystrophin gene is located on the X chromosome. If the mother passes on an X chromosome with an altered dystrophin gene to her son, he will develop DMD because he has only one copy of the X chromosome. Girls have two X chromosomes. When they inherit the DMD mutation from their mother, they also inherit a normal copy of the DMD gene from their father. That is why they do not develop the disease. However, they may be carriers and pass DMD on to their sons.  (+ info)

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