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Viewing 7 posts - 1 through 7 (of 7 total)
  • #94805
    Re: Vitamin D Levels in children with DMD

    Hello

    The testing of vitamin D levels is done because once someone has been taking corticosteroids for a long time (such as in boys with Duchenne muscular dystrophy), one of the side effects is that the bones can become less dense and weaker. Vitamin D helps the body to take up calcium, which is required for strong bones. So to try to minimise side effects, clinicians monitor the levels of vitamin D to make sure the bones are kept as strong as possible.

    The standards of care document for Duchenne muscular dystrophy recommends that tests for vitamin D levels are done once a year to monitor the situation. However, some people may be tested more often – especially individuals who may need a vitamin D supplement. Of course, the age when testing begins will vary between individuals – depending on when/if they start taking steroids etc.

    I hope that answers your question.

    Best wishes,

    Neil
    (Research Communications Officer at Muscular Dystrophy Campaign)

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    #77255
    Re: Viagra clinical trial

    Hi all,

    Thanks for flagging this thread!

    The study that the article refers has actually suspended recruitment. Unfortunately, I can’t tell you why at the moment – and often these details are not released to the public.

    However, what I can tell you is that a company called Eli Lilly have just started a phase 3 trial of a similar drug (called taladafil) in boys with Duchenne. It’ll be posted on our clinical trials database soon – we’re just waiting for the last bit of editing. So research and trials in this area are moving forwards, but we’ll have to wait and see what the actual results look like before we can say how effective these drugs may be in neuromuscular conditions.

    Hope that’s some help,

    Neil

    Research Communications Officer

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    Joined: 14/02/2013
    #92269
    Re: Could I be a carrier of Duchenne Muscular Dystrophy?

    Hi there,

    Just a bit of background: most chromosomes are inherited in pairs, but the ones that determine gender are a little different. Women have two X chromosomes, whilst men have one X and one Y chromosome. The dystrophin gene that causes Duchenne muscular dystrophy is on the X chromosome, so men have one copy (inherited from their mother) and women have two – one inherited from each parent. At least one healthy copy of the gene is required.

    Because your father didn’t have Duchenne, we know that the dystrophin gene you inherited from him did not have mutations (or was healthy). The copy of the gene you inherited from your mother could carry mutations, but, as has already been said, the only way to know for sure is to have a genetic test. However, because your father didn’t have Duchenne, my understanding of this situation is that you have no increased risk of being a carrier compared to people with no family history of Duchenne and I don’t know whether the NHS would provide the test in this situation.

    One thing i should say though, is that new mutations can happen in any generation. So even if neither parent had mutated copies of the dystrophin gene it is still possible for children to be carriers or to have Duchenne muscular dystrophy.

    If you do decide to undergo genetic testing, we would always recommend you talk to your GP and a genetic counsellor before being tested so that you fully understand the implications of the test results.

    If you’ve got any more questions, feel free to post them here.

    Neil

    Research Communications Officer
    Muscular Dystrophy Campaign.

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    #91604
    Re: Animal testing?

    Hi all,

    Sorry for being slow to reply – we normally hide in the research section of the forum!

    The charity does fund research that uses animals. We have a statement about this on our website which you may wish to read – http://www.muscular-dystrophy.org/animal_testing.

    We do promote the 3Rs – Replacement, Refinement and Reduction – and we do require that any scientists who wish to use animals in a research project justify why this is necessary in their work and why any alternatives are not suitable. Unfortunately, for many of the conditions that we cover, there are currently no alternatives to using animals at the present time. Although cells grown in the laboratory will provide a certain amount of information, and these are often used by our scientists, they do not offer enough information to allow a treatment to get into clinical trial. As our aim is to fund research that will lead to treatments for a large number of muscle diseases it is important that this work is done.

    If you wanted to make a donation to support research (but not that projects involving the use of animals) that is possible. Because our researchers have to tell us if they plan to use animals during a project, we can identify projects which don’t, and use your donation to only support those projects. If you just send a note with any donation to let us know, that won’t be a problem.

    I hope this answers your questions, but please do get back to me if you require anything further.

    Neil

    (Research Communications Officer at the Muscular Dystrophy Campaign)

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    #88397
    Re: New Muscle repair mechanism discovered

    Hi there,

    Thanks for letting us know about this story. I’ll have a look at the information and the paper and post a more informative reply once I’ve read it properly!

    Neil
    (Research Communications Officer)

    ResearchTeam
    Participant
    Posts: 7
    Joined: 14/02/2013
    #88141
    Re: Infants with Duchenne’s

    Hi Tom,

    Sorry to hear about the problems with the genetic testing for your partner. I’ll try to answer your questions – and if I miss anything, or there’s anything else you want to ask please let me know – either by posting here or by email (n.bennett@muscular-dystrophy.org).

    Most boys with no family history of Duchenne muscular dystrophy aren’t diagnosed until the first signs of Duchenne muscular dystrophy appear – usually problems with muscle function (for example difficulty running and jumping), enlarged calf muscles and/or delayed speech development.

    With your partner’s diagnosis as a carrier of Duchenne muscular dystrophy, it would be worth talking to your GP and asking for your son to be tested. They should be able to refer you for genetic testing which will give you a definite answer about whether your son has Duchenne muscular dystrophy.

    There certainly is a lot of information available about this condition on the internet. There’s an interesting piece in the latest issue of our Target research magazine called wading through the information jungle which might be worth a read (http://issuu.com/musculardystrophycampaign/docs/targetresearch_1of4_2013_web) and as a starting point, you might want to read the Duchenne muscualr dystrophy factsheet on the main website (http://www.muscular-dystrophy.org/assets/0003/0162/Duchenne_MD.pdf) which has information on the early symptoms and the diagnosis of the condition.

    I hope that is some help. If you have more questions please feel free to email me.

    Neil

    ResearchTeam
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    Joined: 14/02/2013
    #87829
    Re: could my husband have the gene?

    Hi Joannalee,

    Without more information about the specific condition or mutation, I’m afraid it’s impossible to say with any amount of certainty whether your husband might be a carrier of a mutation which could cause muscular dystrophy.

    Because of that uncertainty, the best answer I can give is to echo the earlier comments and say that if you’re worried about your daughter you should talk to your GP and ask to referred to a neurologist.

    Sorry we can’t be more help,

    MDC Research Team

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