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Is muscular dystrophy a genetic disease?

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Posted on Mon, 28 Jul 2014
Question: My husband brother is suffering from Duchene muscular dystropy. he is 32 yrs old now.
i am wondering, since this is a genetic mutation, is it possible for my husband to have some form/type of MD.
also, have a daughter, any chances she may get affected. Before we plan to have another child, should we get any tests done?
doctor
Answered by Dr. Sumanth Amperayani (45 minutes later)
Brief Answer:
Suggestions on Muscular dystrophy

Detailed Answer:
Hi...Thank for consulting on Health Care Magic.

As your husband's brother is having DMD but is living at 32 years, it means it is of a milder form.Unless genetic testing is done, it is difficult to decide whether your husband is carrying the genetic probability or not...that is carrier or not.

DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. Every boy inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. Girls get two X chromosomes, one from each parent.

Each son born to a woman with a dystrophin mutation on one of her two X chromosomes has a 50 percent chance of inheriting the flawed gene and having DMD. Each of her daughters has a 50 percent chance of inheriting the mutation and being a carrier. Carriers may not have any disease symptoms but can have a child with the mutation or the disease.

I suggest your husband should approach a genetics expert and get his evaluated if he is a carrier or not. Even when the wife is a definite carriers, there is a three-in-four, or 75%, chance that in any pregnancy the child will not be affected.

Since Duchenne muscular dystrophy does not affect female offspring, some couples at risk who are expecting a baby wish to know the child's sex before birth. This can be determined with amniocentesis, a procedure for removing a small amount of the amniotic fluid surrounding the fetus. Fetal cells that are floating in this fluid are grown and their chromosomes studied. Aminocentesis is generally performed in the sixteenth week of pregnancy. If the test shows a female fetus, the parents can be reassured that their daughter will not have DMD. If the test shows the fetus of a carrier to be a male, there is a 50% probability that the couple will have an affected son.

Regards - Dr. Sumanth.


Above answer was peer-reviewed by : Dr. Prasad
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Follow up: Dr. Sumanth Amperayani (22 hours later)
Thank you for your answer.
Can the male be a 'carrier' of the flawed DMD gene? eg my husband is healthy but could he have the DMD gene
If yes, then can it be passed on to a son or daughter? Or is the transfer of DMD gene only from the mother?
doctor
Answered by Dr. Sumanth Amperayani (1 hour later)
Brief Answer:
Genetic testing and analysing

Detailed Answer:
Hi...

The only way to find out if your husband can be a carrier is to do genetic testing and analysis. But it is very rare case in which he can be a heterozygote - that extremely rare.

DMD is inherited in an X-linked pattern. A man with DMD can’t pass the flawed gene to his sons because he gives a son a Y chromosome, not an X. But he’ll certainly pass it to his daughters, because each daughter inherits her father’s only X chromosome. They’ll then be carriers, and each of their sons (the second generation) will have a 50 percent chance of developing the disease and so on.

In short, you can find out if your husband is a carrier by genetic testing. If he is a carrier, he can pass it on the carrier title to the daughter. All your sons will be healthy.

I wish your kid a speedy recovery. If you are happy with my suggestions, please rate my suggestions. If you need any future medical consultation and suggestions, I will be glad to help. You can approach me at the following link. Please find the link below.
www.healthcaremagic.com/doctors/dr-sumanth-amperayani/67696


Above answer was peer-reviewed by : Dr. Prasad
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Answered by
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Dr. Sumanth Amperayani

Pediatrician, Pulmonology

Practicing since :2003

Answered : 8283 Questions

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Is muscular dystrophy a genetic disease?

Brief Answer: Suggestions on Muscular dystrophy Detailed Answer: Hi...Thank for consulting on Health Care Magic. As your husband's brother is having DMD but is living at 32 years, it means it is of a milder form.Unless genetic testing is done, it is difficult to decide whether your husband is carrying the genetic probability or not...that is carrier or not. DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. Every boy inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. Girls get two X chromosomes, one from each parent. Each son born to a woman with a dystrophin mutation on one of her two X chromosomes has a 50 percent chance of inheriting the flawed gene and having DMD. Each of her daughters has a 50 percent chance of inheriting the mutation and being a carrier. Carriers may not have any disease symptoms but can have a child with the mutation or the disease. I suggest your husband should approach a genetics expert and get his evaluated if he is a carrier or not. Even when the wife is a definite carriers, there is a three-in-four, or 75%, chance that in any pregnancy the child will not be affected. Since Duchenne muscular dystrophy does not affect female offspring, some couples at risk who are expecting a baby wish to know the child's sex before birth. This can be determined with amniocentesis, a procedure for removing a small amount of the amniotic fluid surrounding the fetus. Fetal cells that are floating in this fluid are grown and their chromosomes studied. Aminocentesis is generally performed in the sixteenth week of pregnancy. If the test shows a female fetus, the parents can be reassured that their daughter will not have DMD. If the test shows the fetus of a carrier to be a male, there is a 50% probability that the couple will have an affected son. Regards - Dr. Sumanth.