Yes, there are many options. It would be important for an affected adult to consult with a medical geneticist or genetic counsellor to facilitate the most appropriate decision for a particular couple. This would depend on the specific genetic information but also the couple’s personal preferences around the most appropriate decision for them.
Importantly, the first step would be to confirm a specific diagnosis in the affected individual. This may require a detailed neuromuscular assessment and investigations, possibly including genetic testing. Once a specific diagnosis is determined, the pattern of inheritance of the condition can be determined. The risk of having an affected child may vary from extremely low (close to 0%) if the affected adult has a rare autosomal recessive condition to 100% if the affected individual is female and has a mitochondrial myopathy. For affected individuals with an autosomal dominant condition, the risk of recurrence is 50%. In X-linked conditions, a male will have unaffected children, whereas a female carrier has a 50% chance of her boys being affected. In the situation where there is a risk of children being affected, various reproductive options are available to ensure that the individual has unaffected children. It is important that the genetic risk be determined as accurately as possible, so that further information has a sound basis rather than being an unscientific estimate.
Broadly the two groups of options include those where the risk is reduced by testing a pregnancy or by avoiding a biological contribution from the affected parent.
A pregnancy can be tested once a genetic diagnosis is confirmed in the affected individual. This generally requires an invasive test to obtain genetic material from the foetus (either chorionic villus sampling at approximately 11‒12 weeks or amniocentesis at 16‒18 weeks’ gestation). In addition, preimplantation genetic testing is also now available. In this case, the couple would need to go through in vitro fertilisation, so that embryos are available for testing in the laboratory. Once the embryos are tested, those that are shown to be unaffected with the genetic disease in the affected parent can be implanted to achieve a pregnancy.
Alternatively, a donor egg can be used if the female partner is the one affected with muscular dystrophy, or donor sperm can be used if the male partner is affected. This would mean that the child could have a contribution from the unaffected parent but no biological contribution from the second affected parent.
Each couple has unique circumstances, both biological and psychosocial, which impact on their decision making. Thus, it is important that all options available to a specific couple be thoroughly discussed so that they can make the most appropriate decision for them.