Heart problems . Some women carrying the DMD gene may develop heart muscle disease (cardiomyopathy) or an abnormal heart rhythm. If this happens, it is usually milder and starts at a later age, compared to boys with DMD. At present, there is a debate about how likely this problem actually is. Recent research from the UK found that most women with the DMD gene had only very minor changes found on heart check-ups. Also, this research found no difference in life expectancy between women carrying the DMD gene and those without it. Other research suggested that 1 in 10 women with the DMD gene might develop some form of cardiomyopathy.
I am the parent of a 10-year-old boy with Duchenne muscular dystrophy (DMD). We are seeking information on his specific mutation, he is missing 2 nucleotides on exon 44 causing a frameshift onto exon 45 resulting in mild DMD or severe Becker symptoms. We can't locate any other person with that specific mutation. We have used the Leiden Data Base and Duchenne Connect, and we have asked an expert at the University of Utah. We are trying to determine the potential course this disease will take. Can you offer any suggestions as to how we can find out if another person has the same mutation? See answer