Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder primarily affecting boys, characterized by progressive muscle degeneration and weakness. Discovered over 150 years ago, the underpinning genetic cause of DMD was identified about four decades ago as a reading frame shift in the DMD gene. This gene is responsible for the production of dystrophin, a protein crucial for building muscle connections. Alterations in this protein lead to the symptoms observed in DMD.
The symptoms of DMD typically manifest in early childhood and worsen over time. Key symptoms include:
Muscle Weakness: Begins in the legs and pelvis, eventually affecting more of the body.
Difficulty Walking: Many children with DMD have difficulty running, jumping, and walking. They may start walking later than usual and often develop a waddling gait.
Muscle Stiffness and Pain: Often experienced as the disease progresses.
Learning Disabilities: Some affected individuals may have mild cognitive impairment.
Progressive Loss of Mobility: As muscles weaken, individuals may require a wheelchair.
Breathing Difficulties: Weakening of the respiratory muscles can lead to respiratory complications.
Cardiac Issues: Heart muscles can be affected, leading to cardiomyopathy and other heart conditions.
These symptoms result from the progressive degeneration and loss of muscle mass due to the absence of dystrophin. Early and ongoing interventions, such as physical therapy, can help manage some of these symptoms and improve the quality of life for individuals with DMD.
Duchenne Muscular Dystrophy is diagnosed through a combination of looking at symptoms and genetic testing to identify mutations in the dystrophin gene. Elevated levels of creatine kinase in blood tests and family medical history also play key roles in the diagnosis process.
The U.S. FDA recently approved AGAMREE® for DMD treatment in children and adults aged 2 years and older. It's expected to be commercially available in early 2024 in the U.S. and potentially in the EU by late 2023. The approval was based on data from the Phase 2b VISION-DMD study and additional safety information from three open-label studies. Vamorolone exhibited efficacy comparable to standard corticosteroids but with fewer adverse effects, particularly regarding bone health and growth.
To learn more about DMD, take a look at the links below!
AAP's Resources for Families Dealing with DMD: Offers a comprehensive collection of resources, including articles, guidelines, and practical tools for individuals and families affected by DMD. https://www.aap.org/en/patient-care/duchenne-muscular-dystrophy/
Everyday Health's DMD Resources: Provides support and resources for those living with DMD or caring for a child with the condition, offering practical support and information. https://www.everydayhealth.com/genetic-diseases/support-and-resources-for-duchenne-muscular-dystrophy/#:~:text=Genetic%20Diseases%20Support%20and%20Resources,to%20give%20you%20practical%20support
Parent Project Muscular Dystrophy (PPMD) Community Resource Center: A one-stop online resource offering a variety of resources, products, and organizations for children, adults, and families living with Duchenne. https://www.parentprojectmd.org/
Muscular Dystrophy Association: Features updated care considerations, clinical guidelines, diagnostic tools, and web-based resources for families and healthcare professionals. https://www.mda.org/disease/duchenne-muscular-dystrophy/medical-management
Duchenne.com's FAQs and Care Center Program: Contains frequently asked questions about Duchenne and information on the Muscular Dystrophy Association’s clinics and the Certified Duchenne Care Center Program across the U.S. https://www.duchenne.com/resources-and-support/common-questions
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