What is Duchenne’s Muscular Dystrophy?
Understanding the Basics
Genetic Disorder
It is an inherited genetic disorder characterized by progressive muscle degeneration and weakness. As time passes, the muscle cells slowly begin to degenerate as they cannot regenerate.
Who is Affected?
DMD affects 1 in every 3,500- 5,000 male births. The dystrophin gene is on the X chromosome, making males more susceptible. Individuals worldwide are affected by it.
Symptoms
The principal symptom of DMD is muscle weakness. They can begin from the age of 2-3. There may be small signs such as starting to walk late, falling, or trouble climbing stairs. These symptoms slowly advance as age increases.
Life Expectancy
Survival in the late 30s for patients with DMD is now becoming more common. This is thanks to advancements in cardiac and respiratory care. Now, young adults with DMD have the opportunity to attend college, have careers, and get married.
How is it Caused?
It is caused by a mutation in the dystrophin gene, which plays an important role in muscle structure. The absence of these proteins eventually leads to the death of muscle cells. Since their muscles cannot replace old, dead cells with new ones, the muscle fibers are replaced.
How is it diagnosed?
DMD can be diagnosed in multiple ways. Once a child begins showing symptoms, their healthcare provider might perform a physical test and, if suspected, order more tests. These can include a genetic blood test, creatine kinase blood test, muscle biopsy, or an EKG.
What are some Recent Advancements in DMD?
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Parent Project Muscular Dystrophy (PPMD) is celebrating its three-decade journey with the inception of the PPMD Together gathering series, commencing on April 19-20, 2024, in Cincinnati, Ohio. They were established thirty years ago by a devoted cohort of parents and grandparents in the Duchenne community. PPMD has evolved into a symbol of optimism fueled by the steadfast commitment of families, individuals, and advocates affected by Duchenne and Becker. Cincinnati, which serves as the birthplace of PPMD, will be where the event will be held. They invite individuals to join in on attending workshops, discussions, and opportunities to connect.
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Edgewise Therapeutics reports positive two-year results from the ARCH study on sevasemten (EDG-5506) for adults with Becker muscular dystrophy. Sevasemten stabilizes NSAA scores and reduces key muscle damage biomarkers. The treatment is well-tolerated, with no adverse events leading to discontinuation.
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PPMD has been advocating for Duchenne newborn screening for over a decade. Collaborating with The Ohio State University, they designed a survey to compare outcomes between siblings diagnosed at different ages. They found that early diagnosis could lead to greater benefits for families. Families often benefit from evaluating different treatment options, prep for school, and accessing medical services through their state.
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After the FDA approved DUVYZAT™ (givinostat) on March 21, 2024, ITF Therapeutics, LLC, the U.S. distributor, provided an update on the drug and its resources. They have launched the DUVYZAT™ website, offering important information such as indications, safety guidelines, FAQs, prescribing details, and a patient medication guide. Individuals can also sign up for updates on the drug. DUVYZAT™ is expected to be available in Q3 of 2024, with ITF Therapeutics planning to conduct informational webinars for the Duchenne community soon.