Muscular dystrophy refers to a group of disorders characterized by progressive muscle weakness and loss of muscle tissue. In specific forms, other muscles—including respiratory muscles, cardiac smooth muscles, facial muscles and swallowing muscles—can also be affected.
Duchenne muscular dystrophy (DMD) is the most common childhood onset form of muscular dystrophy with a prevalence of about 1 in every 3,000 to 5,000 live male births. Age of onset is usually between 3 and 5 years of age. As a whole, muscular dystrophies affect 1 out of every 4,000 to 5,000 people.
Many forms of muscular dystrophy have overlapping clinical features making diagnosis difficult. Genetic testing has been proven to shorten the time to diagnosis and prevent misdiagnosis.
Accurate and early identification of affected individuals allows for improved clinical outcomes and the opportunity to participate in clinical trials.
What is the Program?
The Detect Muscular Dystrophy program, sponsored by the Muscular Dystrophy Association (MDA) and Sarepta Therapeutics, offers genetic testing and counseling at no cost to individuals who may have symptoms of muscular dystrophy but have not yet received a genetic diagnosis. This initiative aims to identify specific genetic mutations associated with various types of muscular dystrophies, such as Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). By providing access to comprehensive genetic testing and follow-up counseling, the program helps patients and their families understand their condition better, potentially leading to more targeted and effective treatments. It also supports wider research efforts by gathering valuable data on the prevalence and genetic variability of muscular dystrophies.
This program is available to individuals located in the US who have a family history of muscular dystrophy* or who are suspected of having muscular dystrophy with one or more of the following:
Collect your patient’s specimen using an Invitae collection kit and return it. Use the label provided to ship most samples at no additional charge.
Program Information
The Detect Muscular Dystrophy program is a sponsored genetic testing initiative designed to diagnose different types of muscular dystrophy, a group of genetic disorders characterized by progressive weakness and degeneration of muscle tissues. The program provides genetic testing to identify mutations in genes associated with these conditions, facilitating accurate diagnosis and personalized management.
Eligibility for the program includes individuals exhibiting symptoms suggestive of muscular dystrophy, such as progressive muscle weakness, difficulty walking, or a family history of the disorder. A healthcare provider’s referral is necessary to participate in the testing.
The program typically involves comprehensive genetic panels that test for a variety of genes linked to different muscular dystrophies, such as DMD for Duchenne Muscular Dystrophy and SMCHD1 for FSHD. These tests can include sequencing and deletion/duplication analysis to accurately identify disease-causing mutations.
Healthcare providers can enroll patients by submitting an application that includes the patient’s medical history, clinical symptoms, and any previous laboratory test results along with required consent forms. This detailed application helps ensure that genetic testing is appropriate and beneficial for the patient.
Participants gain from receiving a precise genetic diagnosis, which is crucial for understanding the type of muscular dystrophy they have and guiding treatment and management strategies. Additionally, a confirmed diagnosis can aid in genetic counseling and inform family members about their potential risk.
Results from the genetic tests are generally available within a few weeks, depending on the complexity of the analysis and the specific genes being tested. Participants and their healthcare providers will be notified as soon as the results are processed and will receive comprehensive counseling to understand the implications of the findings.
Muscular Dystrophy Association (MDA) is the #1 voluntary health organization in the United States for people living with muscular dystrophy, ALS, and related neuromuscular diseases. For over 70 years, MDA has led the way in accelerating research, advancing care, and advocating for the support of our families. MDA’s mission is to empower the people we serve to live longer, more independent lives. To learn more visit mda.org and follow MDA on Instagram, Facebook, X, Threads, TikTok, LinkedIn, and YouTube.
EXONDYS 51® (eteplirsen) is an exon-skipping therapy developed by Sarepta Therapeutics for the treatment of Duchenne muscular dystrophy (DMD) in patients with a confirmed mutation in the DMD gene amenable to exon 51 skipping. This therapy uses Sarepta’s proprietary phosphorodiamidate morpholino oligomer (PMO) chemistry to bind to exon 51 of dystrophin pre-mRNA, resulting in the exclusion of this exon during mRNA processing. By skipping exon 51, EXONDYS 51 allows for the production of an internally truncated but functional dystrophin protein, addressing the underlying genetic cause of DMD. Approved under the FDA’s accelerated approval pathway, EXONDYS 51 is administered as a once-weekly intravenous infusion and has shown a consistent safety and tolerability profile in clinical studies. However, continued approval is contingent upon verification of clinical benefit in confirmatory trials.
Sarepta is on an urgent mission: engineer precision genetic medicine for rare diseases that devastate lives and cut futures short. We hold leadership positions in Duchenne muscular dystrophy (DMD) and limb-girdle muscular dystrophies (LGMDs), and we currently have more than 40 programs in various stages of development. Our vast pipeline is driven by our multi-platform Precision Genetic Medicine Engine in gene therapy, RNA and gene editing. For more information, please visit www.sarepta.com or follow us on LinkedIn, X (formerly Twitter), Instagram and Facebook.
