My mom was recently diagnosed as being a manifesting carrier of DMD. Considering this is extreamly rare, we were wondering if anyone elce has had this diagnosis, and if so how are you being treated for it? She has muscle weakness, muscle aches, muscle wasting. It is also affecting her heart and it's pumping ability. She is 72 yrs old. I am a carrier with no symptoms and my son, Alec has dmd.
I don't have any input on your question but I question of my own. I really just wondered how they made the determination that she was a manifesting carrier vs. a carrier? I imagine that at her age she could be having the problems you mentioned anyway. How do they know it is because of the dmd and not just age related? I am just curious.
I am not sure if I am a manifesting carrier. I have not met any doctors that even knew what DMD was. I think I am though. Prior to finding out I was a carrier, I had begun going to a cardiologist. I have tachycardia, as the doctor put it leaky heart valve as well as chest pains and palpitations. I am afraid about my heart. I have been having chest pains every day now for a few weeks. It's almost as if my heart has stopped for a sec. It stops me in my tracks and I feel like I will pass out. I am just not sure who to go to. I have always had tight muscles and looked built. I tell everyone I look that way, but I don't feel strong. I actually feel weaker and feel like my body just can't do what it use to do. I am only 30.
Kristin - I think that you should call your cardiologist and let him/her know what your symptoms are and make an appointment. If you are a carrier for Duchenne, it does increases your risk of developing cardiomyopathy, but the management of cardiomyopathy is the same, whether or not you are a carrier. A good cardiologist is a good person to see. It will be important to let them know your history, as well as any related family history, and let them know that, due to your possible carrier status, you may be at increased risk. Otherwise, they may not pay as much attention as they should to what looks to be a "healthy 30 year old." Sometimes being anxious about your heart can actually make your symptoms worse, so try not to be overly worried or anxious. If you have symptoms and feel you need to be seen before you can get in, you should go to the emergency room.