As mentioned above, muscular dystrophy is not a single condition. It is a group of genetic diseases characterised by progressive weakness and degeneration of the skeletal muscles. Faults in a large number of different genes may cause muscular dystrophies. The clinical manifestations, age of onset and severity vary considerable between different forms, and also within the same form, depending on the exact causative genetic fault.
There are thus a number of reasons why an individual may want to get a definitive genetic diagnosis rather than a clinical diagnosis. As our knowledge expands, and the number of patients described with faults in different genes expands, we are learning more about the specifics of each genetic condition. Thus, knowing your exact genetic diagnosis may provide some specific management guidelines, e.g. some muscle conditions also affect cardiac muscle, others do not. In addition, some muscular dystrophies may have important non-muscle related complications, e.g. cataracts or hearing loss. If the exact genetic diagnosis is known, management directed to the specific genetic diagnosis may be appropriate.
An exact genetic diagnosis is also required for a patient to be eligible for new gene-specific therapies or gene therapies. In addition, a genetic diagnosis is important in understanding and determining the risk for other family members developing the same disease. Further, it is necessary to know the genetic diagnosis if testing of a pregnancy or embryo is required.