“Are all congenital disorders inherited?”
My friend's son was born with congenital muscular dystrophy, but there's no one in her family with this disease at all (this also includes her husband's family). Are all congenital disorders inherited, or can other factors cause them to develop?
4 Answers
Many congenital disorders run in the families. But there are certain type of diseases where you may not find any parent with disease. There can be many reasons for this. For example, if the parents are only cariers of the disease, they may not have any signs and symptoms of the disease but they carry the chromosomal abnormalities which can be transmitted to the kids resulting in disease in the kids. Your OBG doctor will be able to explain better.
No, not all, some can be.
Many are random mutations. Congenital just means “born with,” but although some result from getting gene(s) inherited from parents, many are mutations in the fetus’ DNA as the cells multiply.
R. Kiley, MD
R. Kiley, MD
Congenital muscular dystrophies are genetic but not always inherited. Most cases are inherited either from one parent or both parents. When it is from both parents, each of them carries one copy of an abnormal gene but are healthy. The affected child, male or female has 2 copies of the abnormal gene, one from each parents. Carrier parents are healthy and there will not be a family history of the condition in either side of the family. However parents have 1 in 4 chance in each pregnancy of having another affected child. In other situations the condition is inherited from an affected parent who has 50% chance of having another affected child with each pregnancy.
The most common type of congenital muscular dystrophy called Duchenne muscular dystrophy is inherited from an asymptomatic Carrie mother and affects 50% of her sons. In about 1/3 of Duchenne dystrophy the gene is not carried by the mom but is a new mutation that appears for the 1st time in the son. Recurrence is very low for mothers sons in future pregnancies in that situation.
Most of these conditions can be diagnosed by neurologist and geneticists with a combination of muscle biopsies and genetic testing of the affected child and parents. Recurrence can only be determined when a definitive genetic diagnosis has been made and parents adequately tested.
Kwame Anyane-Yeboa MD
The most common type of congenital muscular dystrophy called Duchenne muscular dystrophy is inherited from an asymptomatic Carrie mother and affects 50% of her sons. In about 1/3 of Duchenne dystrophy the gene is not carried by the mom but is a new mutation that appears for the 1st time in the son. Recurrence is very low for mothers sons in future pregnancies in that situation.
Most of these conditions can be diagnosed by neurologist and geneticists with a combination of muscle biopsies and genetic testing of the affected child and parents. Recurrence can only be determined when a definitive genetic diagnosis has been made and parents adequately tested.
Kwame Anyane-Yeboa MD
