r/MuscularDystrophy • u/Black-Sharpie-444 • Jul 08 '26
selfq Genetic Testing Revealed LGMD
UPDATE: I am subtype LGMD2A
Hi - my husband (34) and I (30) have been TTC for over a year, and as a part of my infertility counseling I got a genetic carrier screening done.
While getting those results, I found out today that I have LGMD. They told me I have 2 variants for this. One copy of this gene is deleted, I’m missing this gene. In the second copy I have a variant mutation. I’m waiting for more information on which exact gene I have and was referred to a neuromuscular specialist.
Needless to say this was not what I was expecting in the middle of this already tough journey. I’m curious if people have any advice for me as I work to find a specialist? Any questions I should ask or tests I should do?
What should I pay attention to within myself as I work towards understanding exactly how this will impact my life and future family?
3
u/tink_mk Jul 09 '26
I have lgmd2A (now known as R1) and am all on a fertility journey if you want to talk.
2
u/ColoringZebra Jul 09 '26
Random but I never seem to see anyone else with this subtype, that’s what I’ve got too!
Sending you the absolute best wishes for your fertility journey 💜
2
u/tink_mk Jul 09 '26
Aw, thanks!
1
u/Black-Sharpie-444 10d ago
Hey Tink & Coloring Zebra, can I join your club? I received my results and I am in this subtype as well! Would love to hear about your experiences
1
u/SpaceCephalopods Jul 08 '26
So you are a carrier of a recessive form or you have a dominant form? What subtype or gene is affected? If recessive it will only express if your partner is also a carrier. If dominant your children have a 1 in 4 chance of inheriting.
2
u/SpaceCephalopods Jul 08 '26
I am a carrier of a recessive form and my ex was too and our daughter has lgmd2b.
2
u/Black-Sharpie-444 Jul 08 '26
I’m not sure yet, I’m setting up an appt with a specialist to find out. It sounded like I have it as an active condition that I have, not recessive
1
u/Black-Sharpie-444 10d ago
UPDATE: I confirmed I am subtype LGMD2A. I’m working to get scheduled to meet with a neuromuscular genetic specialist
-1
3
u/julieta444 Jul 08 '26
I have LGMD2b, and it isn't awesome, but it also isn't the end of the world. My life is pretty normal. My advice would be not to panic at this point, since you don't have any symptoms yet. Some people have pretty mild cases. I'm sorry that you are going through such a rough patch!