I have suspected for sometime that I am a carrier for DMD. My daughter was just confirmed to be a carrier which means I am also a carrier. She has been experiencing chest pain on occassion and I have thought about having baseline heart tests done on her. Do you think 15 years old is too soon to get baseline testing? I'm actually concerned about her because she is so tired all the time and she has so many complaints about feeling tired, having headaches and aches and pains everywhere. I have taken her to the doctor but they never find anything. She has several labs and the only abnormality was a CPK of 225....which led us to have the gene test.
I have already had an echocardiogram and ekg about 3-4 years ago. Everything was normal for me.

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What's the protocol for carriers? Has one been established? I would like to know that, too.
I personally think regular testing should be done for carriers as I started have irregular heart beat problems about 5 years ago and now we are finding out this may be related to being a carrier. I need to find out how to test my two x chromosones to find out if the wrong one shut off.
Lisa

I meant to also say that I think you should get your daughter tested since she is symptomatic. As you are aware, EKG's and Echocardiograms are non-invasive types of test so she won't fight you on it. Unlike my daughter who is fretting her Tetanus booster IM injection. I don't think she is too young to have a workup done, either. Reports suggest that kids need to have their cholesterol ( a whole other subject) tested at a much younger age. Especially if their parents have hyperlipidemia themselves and a family history of strokes, heart attacks.
This is a direct quote from the article
RECOMMENDATIONS FOR cardiac CARE IN
CARRIERS OF DMD OR BMD

1. Carriers of DMD or BMD should be made aware
of the risk of developing cardiomyopathy and
educated about the signs and symptoms of heart
failure.

2. Carriers of DMD or BMD should be referred for
evaluation by a cardiac specialist with experience
in the treatment of heart failure and/or neuromuscular
disorders. Patients should undergo initial
complete cardiac evaluation in late adolescence
or early adulthood or at the onset of cardiac
signs and symptoms, if these signs or symptoms
appear earlier.

3. Carriers should be screened with a complete cardiac
evaluation at a minimum of every 5 years
starting at 25 to 30 years of age.

4. Treatment of cardiac disease is similar to that
outlined for boys with DMD or BMD.

The article is sited below:
"Cardiovascular Health Supervision for Individuals Affected by Duchenne or Becker Muscular Dystrophy
Section on Cardiology and cardiac Surgery
Pediatrics 2005;116;1569-1573
DOI: 10.1542/peds.2005-2448"

The online version of this article, along with updated information and services, is located on the World Wide Web at:

http://www.pediatrics.org/cgi/content/full/116/6/1569

I also agree with Tina, it sounds like your daughter could be experiencing some issues, it would not hurt to get your daughter tested.
Early detection and intervention is important .... see article below

Tina

(International Journal of Cardiology, 2008) Cardiac involvement in a female carrier of Duchenne muscular dystrophy

Thomas Walcher, Markus Kunze, Peter Steinbach, Anne-Dorte Sperfeld, Christof Burgstahler d, Vinzenz Hombach a, Jan Torzewski - Germany

A 42 year-old female carrier of Duchenne muscular dystrophy (DMD) was referred with suspected subacute myocarditis and nonsustained ventricular tachycardia. Echochardiography and cardiac catheterization revealed severely reduced left ventricular function (LVF). Coronary artery disease was excluded. Cardiac magnetic resonance imaging showed transmural, intramural and subepicardial late gadolinium enhancement. Myocardial biopsy excluded viral infection and showed severe myopathic changes with abnormal expression of dystrophin and utrophin. Moleculargenetic analysis of the DMD gene revealed frameshift duplication of exon 2. The patient received conventional heart failure therapy, implantable cardioverter/defibrillator-implantation and prednisolone to attenuate cardiac degradation. 6 months later she had improved clinically though LVF was still severely reduced.
Our genetic mutation is a duplication of exon 2. I also read on Dr. Cripe's report on Bradley that she recommends close surveillance because Bradley is entering the age where progressive Cardiomyopathy is noted. She also stated they have identified a higher frequency of cardiac disease in patients with mutations in the proximal end of the dystrophin gene. she said this was not published but was only an observation at CCHMC. So the article about the 42 year old carrier of DMD is interesting.
Hi Lisa,

My son was diagnosed with DMD in May, and I found out I was a carrier in June. My doctor immediately sent me to the cardiologist for baseline testing. They did an EKG, stress test, and a sonogram of my heart. So far, so good - everything checked out fine. All of it was painless, so it won't be anything to test your daughter.
I just want to share our story with anyone I can: My son was diagnosed in 1998. At that time I was tested to see if I was a carrier. I was not.
My daughter went in to get tested as well but was told that she could not be a carrier. Well, now she's married and ready to start a family.
My son is 16 and has not had any signs of puberty so he was referred to a genetics doctor and while review my son's file, he asked if there were any siblings one thing led to another and he felt that my daughter should still be tested even though I'm not a carrier. He said my "eggs" could have been defective and to eliminate any concern -- get her tested. Her results came back friday and she IS a carrier.
Along with carrier testing and ekg and echo, have her thyroid levels tested. All the symptoms you listed can be caused from an underactive thyroid. I had all these symptoms, and I am now on synthroid. My headaches are less, my joints no longer hurt, and my energy level is much better. It's a completely seperate issue, but is more common in females. Having TSH levels tested is an easy blood test and the results are available the same day in most labs.
I am not a carrier, should I still get these tests done or am I just wasting my time. I have heard that if you have a child with DMD you should get your heart checked if you are a carrier, but since I am not,I have not been advised to do so. Just wondering!!

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