Emma Ciafaloni, MD: A prompt and precise diagnosis in a patient with Duchenne muscular dystrophy is extremely important. This is a genetic disease, so it’s very important to have a definite diagnosis so the patients don’t undergo unnecessary tests. A very important test is CPK, a blood test that is always very elevated in Duchenne muscular dystrophy, and that’s a test that can point you in the right direction to say this is a muscular dystrophy. Then, you really need to proceed with genetic confirmation because, of course, there are many other muscular dystrophies that can present similarly to Duchenne, like limb-girdle muscular dystrophy, congenital muscular dystrophy. So a prompt genetic testing is approximately 95% or more sensitive and is very important nowadays to confirm the diagnosis.
Obviously, for genetic counseling for the family it is important to educate about the possibility to have other children affected by the disease in subsequent pregnancy. It’s also extremely important because although the standard-of-care and corticosteroids are good treatment for all …patients with Duchenne muscular dystrophy, there are now other more genetic specific treatments that are really targeted to specific subgroups of patients with Duchenne, and that are only applicable to a portion of patients, depending on their precise genetic mutation. So gene testing to confirm the diagnosis is very crucial.
This is a very serious diagnosis, a disease that is universally progressive and that will cause loss of ambulation, causing these children to use a wheelchair usually in their late teenage years. It’s very tragic for a family to learn about this diagnosis and to really cope with the long journey of living with this disease. Usually, when we make a diagnosis of Duchenne muscular dystrophy, it’s very important to have a genetic counselor to really explain the risk. It’s also important to have more support as part of the multidisciplinary team, usually in the form of a social worker, nurse practitioner and the doctor of course. It is very important as well to tell the patients and their family about patient organizations where patients and family can actually meet other families, other children with this disease at different stages of the journey with the disease. They can really become empowered, educated, and know that living with this disease is, in fact, very much possible, so that they don’t feel isolated and alone with this serious diagnosis..