Many children are referred to our clinic after a primary care provider notices concerning signs. The provider might order initial blood tests, such as creatine kinase (CK) levels or liver function tests. These initial tests may indicate the presence of DMD and prompt a referral to pediatric neurology for a more comprehensive evaluation. The neurologist will order genetic testing to confirm a DMD diagnosis.
Typically, a CK blood test is the first step when evaluating a child with a suspected medical issue impacting the muscles. The test takes less than five minutes and is typically ordered by a primary care or referring provider. During the test, blood is drawn from the child’s arm using a small needle. Parents may be in the room during the blood draw to provide hugs, distractions and comfort.
The blood sample is sent to the laboratory to check the level of CK, a protein found inside muscle cells. High levels of CK in the blood can indicate damage from DMD.
For families facing a suspected DMD diagnosis, genetic testing will confirm the presence of a mutated dystrophin gene. This process, which is typically performed on blood or saliva, helps ensure your child receives the most accurate diagnosis and, consequently, the most appropriate treatment options. In some cases, additional testing may be required if DMD is suspected and genetic testing does not find a genetic mutation.
Genetic counselors also play a vital role in educating families about DMD. They can explain the condition, discuss the potential risk of passing it on to future children, and connect you with valuable resources, like DMD-related advocacy and support groups. This empowers you to make informed decisions and navigate the path ahead.
