Muscular dystrophy is an assemblage of heritable muscle conditions which progressively lead to muscular weakening. Unfortunately, there are no means of preventing muscular dystrophy when it arises due to a spontaneously occurring gene mutation.
Any couple having a history of this disease in the family ought to seek genetic counseling.
Counselors would assist in determining the risk of bearing an offspring with the condition and offer valuable assistance on the most apposite way of proceeding in such a scenario.
Effective Ways to Prevent Muscular Dystrophy
Get Medical Advice
It is imperative that medical histories of both partners be discussed in detail with the respective specialist or gynaecologist. This will help the couple to decipher if genetic testing is an apt suggestion for them prior to making any attempts at having kids. Individuals with a kin history of the condition have a twenty-five to fifty percent risk of passing it on to their offspring.
Seek Expert Guidance Regarding Genetic Studies
One’s physician can provide valuable information regarding the most reliable genetic testing facility as well as experienced physicians who have gained specialization in the field of genetic diseases. Working in tandem with a geneticist would help the person in obtaining a precise diagnosis.
One should proactively request for all obtainable tests to ascertain one’s risk of passing on the disease to the offspring. Presently, tests are unavailable for each and every form of muscular dystrophy, although researchers have managed to cover most of the types via genetic testing.
Genetic testing involves analyzing the gene for spotting the particular condition-causative mutation. Genetic tests could additionally forecast an individual’s odds of developing of the condition. In case of pregnant women, genetic studies conducted during gestational period are capable of detecting Duchenne Muscular Dystrophy with approximately ninety-five percent precision.
Since several forms of muscular dystrophy are essentially recessive inherited disorders hence there’s a likelihood of a person carrying a replica of the flawed disease-causative gene and still not have the disease. Genetic testing helps to ascertain if a person is a carrier of the condition.
When a Woman is a Carrier
A carrier – characteristically, a sister and mother of a person with muscular dystrophy – generally doesn’t have the condition, however, she might be mildly symptomatic which reveal clues about it. Such a woman is capable of passing the disease on to her offspring.
Her son would develop the condition and fifty percent of the time, her daughter becomes a carrier. Identification of a carrier in case of Becker muscular dystrophy and Duchenne muscular dystrophy is possible through genetic detection test. The test assesses irregularities in samples of venous blood or bone tissues taken for genetic mutations as well as protein dystrophin.
Carrier Genetic Testing
A woman who gets a positive result in genetic carrier test is indubitably a carrier. Experts have strongly recommended genetic carrier testing due to its high accuracy and the minimal requirement of merely a blood sample. It is possible to estimate risk of females who haven’t undergone this test by evaluating their family history by a geneticist with training in using kin history for risk determination.
It is a well-identified fact that afflicted individuals in the analogous kin mostly possess the analogous mutations in the DMD gene and would be having the analogous form of muscular dystrophy.
Regrettably, nothing can be done after birth to prevent the condition from progressing, especially in the case of Duchenne Muscular Dystrophy. But, when there’s an identified case of this condition in the kin then prenatal diagnosis via genetic testing can be offered in every upcoming pregnancy for mothers of children who received a diagnosis as well as for other females in the kin.
DNA probe analysis is deployed for antenatal diagnosis that involves addition of a special piece of DNA (termed as probe) to the sorted DNA strands. The probe has been devised for binding to particular mutated segments of the gene which then become apparent on X-rays and bear a distinctive banding pattern.
Amniocentesis test is offered during gestation wherein extracted amniotic fluid is examined for checking any existence of genetic mutation which causes muscular dystrophy. If fetal cells present in the fluid surrounding the uterus are found to possess the culpable genetic mutation then the infant can perhaps have muscular dystrophy after birth.
Whether one decides to go in for the test and the course of action taken after getting test outcomes ought to be clearly talked over with an experienced medical counselor or midwifery practitioner.
Discussing antenatal screening for this condition is important for women having a kin or a kid with muscular dystrophy. Antenatal screening facilitates charting out earlier therapy plans as well as offers ample time necessary for prepping oneself for a kid having such disease.