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  • #194321
    Blood Tests

    Hi :new:
    I’m a female carrier of the MD gene also what they call a presenting carriers as are two of my sisters and each has a son who has muscular Dystrophy both also have Autism.
    I myself have a son age 9 also Autistic who had blood tests at age two to make sure he was safe to have and operation needing ansthetic he was given all clear to have the operation. Should I have him tested again for MD, as he shows signs of MD in his physical appearance and in his motors kills eg sports, ballance ,trips/fall over alot when ther wasn’t anything to cause the fall he can’t run very well and struggles to keep up with me while walking, his foot cramps and legs ache after walking shorts distances he has muscle dysplasia in one foot his calf’s are almost the as the top of his legs and has poor upper body strength.
    Should I have him tested again?
    Any advice I’d be very grateful of.



    Posts: 0
    Joined: 29/04/2021
    Reply To: Blood Tests

    Hello and welcome Julie. I would guess that you are unsure as t what type of blood test was carried out back when he needed and anaesthetic. I wold also suspect that no diagnosis of MD was give at that time as I am sure you would have mentioned it. Clearly in view of his motor problems there should be a need to discover what is going on, and the best way to find out is asking for the advice of a neurologist. They would then be able to advise on the most appropriate tests, including blood tests to establish what type of MD he may have. As there is an apparent family history I am sure that will also be taken. Of course diagnosis may well take more than a blood test. If all goes well a genetic test will indicate what type of MD, if any, he may have.
    I would certainly urge you to do this through your GP, so that you can put your mind to rest as to what is going on, and, take the results that can help you plan for his future.Please do come back to us if you need anything else, and also lease keep us updated on progress. As many on here will caution, these things do take time so you will need to be patient.


    So many love songs, so little love.

    embayweather embayweather
    Posts: 8
    Joined: 02/11/2015
    Reply To: Blood Tests

    Hi Julie

    MD diagnosis takes ages most times, for quicker probable diagnosis just go to your doctor/gp and request a ck blood test and liver function blood test.

    Results within 48 hours, if he has MD like you suspect already then ck levels will be raised and possibly also liver function test.

    As generic will also be same type your sisters children have so if after these blood tests the Dr thinks you need to be referred to a neurologist find out what your sisters childrens exact MD is and mention it to the neurologist as will focus on the exact dna blood test for faster screening

    Hope all works out as best it can

    Posts: 0
    Joined: 01/01/2020
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