FAQ - Muscular Dystrophy, Facioscapulohumeral
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what is the well known treatment for "facioscapulohumeral muscular dystrophy"at the world level?


"facioscapulohumeral muscular dystrophy" is one type of MUSCULAR DYSTROPHY.
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* No Food and Drug Administration approved therapies exist specifically for FSHD.
* Occupational therapy can sometimes be used to help cope with new devices to make things easier.

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Is it possible to cure the disease of "FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY" One type of muscular dystrophy?


Treatment For FSHD
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There are no known cures for the various muscular dystrophies. Treatments are given to control symptoms and improve the person's quality of life. Activity is encouraged. Inactivity such as bedrest can make the muscle disease worse. Physical therapy may help maintain muscle strength.(MedlinePlus)
Facioscapulohumeral dystrophy is an autosomal dominant disorder characterized by weakness of the facial muscles and shoulder girdle, usually beginning at age 7 to 20. An infantile variety, characterized by facial, shoulder, and hip girdle weakness, is rapidly progressive. A classic variety has onset during adolescence or young adulthood and is characterized by slow progression and difficulty in whistling, closing the eyes, and raising the arms (due to weakness of the scapular stabilizer muscles). Life expectancy is normal.
Diagnosis is indicated by characteristic clinical findings, age at onset, and family history and confirmed by DNA testing.
Treatment consists of physical therapy.(Merck)  (+ info)

Can anyone help me find statistics on Muscular Dystrophy?


I need to find(an estimate) of:
# of people affected, and killed by Muscular Dystrophy. I'd say, Just in the United States at least.
I've got 4 main types and a small estimate of those afected, but i'm not sure if these numbers are correct: Duchennes-1 in 30,000 males, Beckers, 1 in 3,500 males, Limb Girdle in the low thousands, and facioscapulohumeral for 1 in every 20,000.
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Hi there! May be able to help you out a little.. my boyfriend of 7 years has limb-girdle muscular dystrophy, so I have done a little research on it myself..

While Lou Gehrig's disease (ALS) and Marie-Charcot-Tooth present with SIMILAR symptoms to Muscular Dystrophy, due to their cause they are not categorised as muscular dystrophies. They affect motor neurons and nerves which control muscles respectively, whereas dystrophies are actually caused by the muscle cells themselves breaking down.

According to the UK's main muscular dystrophy site, there are about 60,000 people in the UK with muscular dystrophy and related conditions.

The official "Muscular Dystrophy Types" include:-

Duchenne's Muscular Dystrophy (DMD)
Becker's Muscular Dystrophy (BMD)
Limb-Girdle Muscular Dustrophy (LGMD)
Emery-Dreifuss Muscular Dystrophy (EDMD)
Congenital Muscular Dystrophy (CMD)
Oculopharyngeal Muscular Dystrophy (OPMD)
Facioscapulohumeral Muscular Dystrophy (FSHMD)
Distal Muscular Dystrophy
Fukuyama Muscular Dystrophy (found almost exclusively in Japan)

Related conditions include myopathies, myotonias, and hypotonias, as well as spinal muscular atrophies.

I've found some information about the occurrence of MD in the population, but I can't put them in any sort of logical order.. sorry! I'll put them in point form.

Also look at http://www.wrongdiagnosis.com/m/musdys/stats-country.htm and http://www.wrongdiagnosis.com/m/musdys/prevalence.htm - these websites have extrapolated data which you should be careful of, but it could be helpful!

* Duchenne's Muscular Dystrophy (the most "deadly" form of MD) occurs in about 1 in 3200 live male births. The risk of a non-hereditary form of DMD is about 1 in 12000. About 1/3 of all Duchenne's cases are not genetic. About 70-80 % of female carriers can be identified, and the chance of identifying a female carrier is better the younger the girl is when being tested.

* In Australia - the incidence of "Muscular Dystrophy" is estimated to be 100 per 100,000 head of population. Based on current figures (1995), it is estimated that there would be in excess of 20,000 people in Australia who have some form of neuromuscular disease. The incidence of Duchenne muscular dystrophy (DMD) is estimated to be 1 in 4,000 live male births is by far the most common form of neuromuscular disease.

*There is no part of the world where MD is more common than another.

* DMD and BMD are single gene disorders caused by a malfunctioning gene on the X chromosome. They are both recessive diseases , and therefore occur much more commonly in males than females. This is because two defective chromosomes must be present for the disease to occur in females, whereas only one is required in males. The occurrence of DMD is about one in 3500 males, while BMD is much less common, with an occurrence of one in 20 000 males. (http://genome.wellcome.ac.uk/doc_wtd020864.html)

* 500 - 600 male newborns are diagnosed with muscular dystrophy each year in the US, Duchenne and Becker types.

* The muscular dystophies are the most common form of hereditary disease. The most common form of muscular dystrophy is Duchenne muscular dystrophy, followed by facioscapulohumeral and myotonic. The approximate incidence is as follows:
DMD: 1 in 3300 live male births
BMD: 1 in 18000 live male births
Congenital myotonic dystrophy: 1 per 10 000 births
FSHMD: Prevalence of 1 in 20,000
http://www.virtualmedicalcentre.com/diseases.asp?did=794

* A 2008 analysis of rare diseases listed FSHD as the most prevalent form of MD at 7/100,000.- http://en.wikipedia.org/wiki/Facioscapulohumeral_muscular_dystrophy

Hope that helps out a little.. good luck! I know a few of the stats contradict each other, but make what you can of them!  (+ info)

Muscular dystrophy?


Hello all.
I'm ashley and I'm teaching my fellow AP biology classmate about muscular dystrophy. I would like to be able to tell them how someone who has Muscular dystrophy deals with it in their daily lives. I would be happy to hear anything you have to say.
Thank you,
Ashley
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Ashley, you can try webmd.com, mayoclinic.com, familydoctor.org for some disease information and hopefully these websites will also have some links on support groups as well, good luck  (+ info)

Muscular Dystrophy...?


My friend is dating a guy who has muscular dystrophy and she's wondering if her future children (if she has any with him) will have the disease. Fact-filled answers would be much appreciated. Thanks. :]
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well, muscular dystrophy is a recessive, and in some cases, X-linked trait, meaning that the trait for muscular dystrophy is on the X chromosome (females have two x choms, males have an x and a y). Basically, any son she had would have at least a 50% chance of having the disease, and depending on whether she is a carrier for the trait (meaning that she carries the trait for muscular dystrophy, but doesn't show it because it is recessive), her daughters would either have a 0% chance of having it (if your friend isn't a carrier) or a 50% chance of having it (if she is a carrier). a good way for her to get some idea on wheather or not she's a carrier, she can look back at her family history and see if any distant family members have shown the trait for Muscular dystrophy.

Hope this helps  (+ info)

Do you think that I have Facioscapulohumeral muscular dystrophy?


Please don't answer unless you know what you're talking about cause this is really freaking me out. I'm 19 years old and I've always had some weakness in the muscles around my mouth. It has gotten better over time by doing facial exercizes, I have trouble smiling sometimes and puckering my lips on the left side of my face. I've always thought it was because I was very quiet as a child and never really exercized my mouth. Everything else in my face is fine. Also I have never really noticed it until like maybe 2 or 3 years ago but I have some shoulder weakness. Again it has gotten better with exercize but they are still noticably weaker then the rest of the muscles in my body. And finally I have alot of trouble with my abs, I can do pretty much everything normally except for sit ups. I don't know what it is, My back is forced to arch when I do them, I think its much more my lower back then my abs. I think its just because my back can't support my body weight. It really isnt that bad and it isnt effecting my life, I dont know I just kind of thought most of it was from my growth spurt and some parts of my body were still catching up. I've grown like 8 inches within the last 2 years or so. I'm about 170 pounds and about 6 foot 1 so I'm pretty concerned about my weight as well I have a really hard time gaining. My facial muscles get alot better after working out, so I've always thought it was from a lack of blood flow or something. I read this article and it really freaked me out. It said that the symptoms get worse over time and most people end up in wheel chairs. If you think I might is there some kind of test that I can take.
I will admit I am a bit of a hypocondriac but there just seem to be too many symptoms that match my condition. Idk maybe it's just all in my head
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Good Lord....you are asking us what we think about a condition like that? You need to see a DR.....not strangers who know nothing of your physical condition, you medical history etc. GO SEE A DR!!!!  (+ info)

How long will muscular dystrophy telethon go on?


Doesn't most muscular dystrophy patients have insurance?

I would think if they are poor they would have medicaid.

So, are most of the money made during the telethon go to research?

Not making much progress are they? I think they've been doing the telethon for over 30 years at least.

I think it's a scam.
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It will be on for 24 hours.  (+ info)

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)

What is the probability of a couple having a child with Muscular dystrophy if the mother is carrier?


the mother is the carrier and the father unaffected. they have a son already with muscular dystrophy. another child is expected.
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Duchenne Muscular Dystrophy (DMD), the most common form, is one of 9 types of muscular dystrophy. The sons of female carriers each have a 50% chance of having the disease. The daughters of female carriers each have a 50% chance of becoming carriers themselves but will not have the disease if the gene is linked to DMD. But since you haven't stated which type of dystrophy the existing son has, I'm not able to work with complete information and I'm going on the assumption that the child has DMD.  (+ info)

What should i do for my muscular dystrophy presentation?


For school we have to do a presentation on muscular dystrophy. I made a powerpoint but my teacher said I need something else that is more creative.... Any Ideas???
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