CureDuchenne Branded - Dual-Liner Face Mask (Adult)3 × $8.00
Exon Branded - Dual-Liner Face Mask (Youth)3 × $8.00
A positive screen does not necessarily mean that a baby has Duchenne, but it does indicate that further testing should be performed as soon as possible. You could seek an answer for years until a provider recognizes the telltale signs of Duchenne, but diagnostic odysseys for Duchenne families can be avoided. This information is vetted by geneticists and pediatric neurologists for parents of a newborn with a positive screen for Duchenne Muscular Dystrophy (DMD).
Your next steps are important
If you have received a positive newborn screen result, or initial testing shows the possibility of a Duchenne diagnosis, contact your Doctor to confirm diagnosis as soon as possible. With early diagnosis, you can begin treatment as soon as clinically appropriate. This may help preserve muscle strength, slow progression of weakness and preserve loss of function.
Duchenne is typically diagnosed by age 5 once signs of the disease become undeniable: contractures begin, fibrosis starts to form, and muscle weakness sets in. Once symptoms are outwardly identifiable, severe, and irreversible consequences of the disease have already begun to manifest.
Early diagnosis, on the other hand, allows earlier intervention and effective treatments. By taking advantage of early clinical guidelines, then initiating therapies and treatment protocols, health outcomes are significantly improved.
Most states test for conditions specified by the Health Resources and Services Administration (HRSA) in their Recommended Uniform Screening Panel (RUSP), however DMD is not yet included in the RUSP. While DMD may soon be considered for the RUSP, several programs have started offering supplemental
DMD screening for all expecting families. The DMD NBS opportunity may have been presented to you by your physician or the NBS program coordinator at the hospital. A genetic counselor may have explained what NBS is and why it is being offered for DMD. If so, there should be a process specific to the hospital to manage screening and result follow-up.
When this occurs during NBS, the test is often automatically re-run by the laboratory to confirm the result. Your provider can request a follow-up CK test to validate the newborn screening result if this was not conducted.
Depending on the hospital, adequate follow up includes a referral to a pediatric neurology clinic or neuromuscular specialist for evaluation, diagnostic testing and care. Or, visit our list of specialists in Step 5, “Duchenne Care Teams” on our Newly Diagnosed website.
Further diagnostic tests are necessary to indicate presence (or absence) of DMD in screen-positive individuals. With early diagnosis, important interventions could be pursued that may help preserve muscle strength and lead to slower progression of weakness and loss of function.
Genetic counselors can help you understand the need for genetic testing and help determine which testing is appropriate. To find a genetic counselor near you, visit step 6 on our Newly Diagnosed website.
For example, if genetic testing reveals a Variant of Unknown Significance (VUS) in the gene for dystrophin, a muscle biopsy can be performed to look for myopathic features in the muscle and to establish whether there is normal or abnormal expression of the dystrophin protein in the muscle by Western blot, thereby providing assistance in determining whether the VUS might be the underlying cause of a myopathy.
A rapid and early diagnosis can lead to a prompt specialist referral and quicker access to a specialty care team familiar with DMD. If there is a positive diagnosis of DMD, family members (mothers and male siblings) should be screened. Your physician and genetic counselor will work with you on the testing needed. The mother is typically tested first to find out if she is a carrier of the disease.
Boys who receive the X chromosome with the mutation manifest the disease, while girls, who have two X chromosomes, often do not manifest the disease (because they carry one X chromosome with the mutation, but still have dystrophin protein produced from the other X chromosome without the mutation).
We are always working toward a cure for Duchenne muscular dystrophy, as our name implies. This also includes building the best clinical framework possible for families to get the care they need at the right time. For children identified and diagnosed today, there is reason for hope. We are very encouraged with the pace of research, clinical trials and medical advancement for Duchenne.