If it is a first child then a lot depends upon the maternal history. If on the mother’s side all males are ok (not having muscular dystrophy) then it is very difficult to anticipate that the foetus has any form of MD, as this genetic defect cannot be diagnosed during normal sonography. However if it is a 2nd pregnancy and by that time if the first child is already diagnosed with DMD, then CVS (Chorionic villous sampling) is a form of prenatal diagnosis to determine chromosomal or genetic disorders in the foetus. It entails sampling of the chorionic villous (placental tissue) and testing it for chromosomal abnormalities, usually with FISH or PCR. CVS usually takes place at 10–12 weeks gestation. Your Gynaecologist will be best person to guide you in detail about this procedure. In CVS test if the foetus is found to be DMD positive then couple may decide to abort after proper consultation with their Gynaecologist.
No, sometimes it may be a first mutation. Here’s how it happens:
Very early in the development of a baby in the womb (when it’s still referred to as an embryo), cells that are the ancestors of the child’s future sperm or egg cells separate from the rest of the developing embryo. Since sperm and egg cells are known as germ cells (from the Latin word germen, for “bud” or “embryo”), this batch of cells that’s set aside is called the germ line.
As the embryo develops into a foetus, and continuing after the child’s birth, the germ line cells divide and multiply. For boys, sperm cells don’t complete their development until the child becomes an adolescent. A girl’s egg cells complete part of their development during fetal life and part at puberty.
At any stage — from embryonic life through puberty or even later — mutations (changes) in the genes in the germ cells can occur. If mutations occur early, they affect many “offspring” (new sperm or egg cells) of the early germ cells. If they occur late, they affect very few, or maybe even just one, cell.
Most DMD children have normal IQ, but yes, some DMD children have mild Autistic and Attention Deficit Hyperactivity (ADHD) symptoms. Dystrophin is also missing in their brains. This may be the reason of their mild Autism. Timely intervention like Behaviour therapy, Speech therapy and Occupational Therapy can help reduce the symptoms with growing age. A child psychologist will be your best guide. Even medical interventions like Methylphenidate can be used if necessary to treat ADHD. However this should not be taken without your doctor’s prescription /consultation.
DMD children are weaker than other normal children of their age. They are more vulnerable to frequent falls and respiratory infections. If they are on steroids it is very much likely that their bones are fragile and their immunity is also little weaker and so a good healthy diet with more of calcium and Vitamin D3 intake. Certain anti- oxidants (though not proven scientifically) may be useful. Vitamin E is a good anti- oxidant and can be found in papaya and various leafy vegetables. Vitamin D3 is available in good amount in sunlight. If your child is fussy in eating then various natural supplements which are good antioxidants are available in food and health stores like Vitamin E, CoQ10, Vitamin D3 and Calcium.
You must also ensure that all your child’s immunization are timely done , especially Pneumococcal Vaccine as DMD children are more vulnerable to respiratory infections (especially if they are on steroids)