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Muscular Dystrophy Message Board


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Hello All! I am a 26 year old female, who was diagnosed with Muscular Dystrophy (through a muscle biopsy) at the age of six. At that time, I was told that I have Limb-Girdle Muscular Dystrophy. However, my type of Muscular Dystrophy is now in question...

I suffer from weak arms and legs, which have gotten progressively worse as I've gotten older. I am able to walk and get around, but my pace has slowed down and I have difficulty climbing hills and stairs.

I also suffer from contractors (tightening of muscles) in my elbows and ankles. At my last appointment at the MDA clinic, the doctors suggested that I may have Emery-Dreifuss Muscular Dystrophy, rather than Limb-Girdle Muscular Dystrophy. Their main reason for thinking this is due to my contractors.

The main symptoms of Emery-Dreifuss include contractors (especially in the elbows, ankles, or upper back), weakness in the shoulders, joint deformities, and heart problems (usually after weakness already occurs).

After two months, I finally received the results of my Emery-Dreifuss blood test. My results came back as "inconclusive", meaning my DNA does not match with those who tested positive for Emery-Dreifuss, nor does it match with those who tested negative for Emery-Dreifuss.

The Geneticist told me to call back in a year or two, as more research and data may be available. Until then, I am feeling frustrated and hopeless. I feel like my life is on hold...

Do any of you have any advise for me? Do any of you have Emery-Dreifuss? Do any of you have Limb-Girdle, but also suffer from contractors? Any advise of input would be much appreciated. Thank you!





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