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Muscular Dystrophy Message Board

Myotonic How to get tested for Myotonic MD Type 2

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Old 09-05-2017, 04:09 PM   #1
Join Date: Jun 2011
Location: United States
Posts: 5
arbie25 HB User
How to get tested for Myotonic MD Type 2

My mom has myotonic MD type 2, and she has 4 kids. Two of them appear to have it (my brother and sister), while me and my other sister do not. My brother also has MS, and autoimmune diseases seem to run strongly in our family.

I'm 31 and have no symptoms, but my brother didn't get diagnosed until he was in his 40's because his MS symptoms hid his MD symptoms.

I spoke to my regular doctor today and asked her about my risk for getting MD, and she suggested I see a genetic councilor.

But when I looked online to see what genetic councilors my health instance covers, it looked like all of them are located in childrens' hospitals. Does this mean I have to lie and say I'm considering my risk of passing it on to my kids? My husband and I definitely don't want kids; it seems weird that the only genetic councilors are ones located in childrens' wards.

For those of you who have MD, how did you all get diagnosed? What kind of doctors did you see? For those who don't, have you ever seen a genetic councilor?

I'm just confused about the process and what I need to do moving forward to evaluate my risk.

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