Sarepta Therapeutics的动态

As part of the myTomorrows disease awareness series, we are committed to helping patients, caregivers and loved ones to keep informed and learn how to navigate conditions and treatment journeys proactively. ?? This week we’re talking about Myotonic Dystrophy Type 1. It is a complex genetic disorder characterized by progressive muscle wasting and weakness. Besides the muscle, this condition may also impact?other?parts of the body, such as the heart, lungs, digestive system, eyes or brain. ? For people with Myotonic Dystrophy Type 1, performing everyday activities can become increasingly difficult. While there is currently no cure for Myotonic Dystrophy Type 1, treatments focus on alleviating symptoms and improving quality of life. ??Do you want to know more about how Myotonic Dystrophy may affect someone’s health and daily life? Our blog provides comprehensive insights about this disease. https://lnkd.in/eZUm7S4U ??The genetic basis of Myotonic Dystrophy 1 ??What are the symptoms and complications? ??Importance of early diagnosis and ongoing care ??What types of investigational treatments are being researched? Whether you are affected by Myotonic Dystrophy Type 1 or want to learn more, our blog provides valuable knowledge and information about this disease.?? #DM1 #MyotonicDystrophy #MyotonicDystrophyAwareness

?? We have a new blog! ?? ?? “Lower back pain (LBP) is not a disease, and yet LBP causes more disability than Alzheimers, Asthma, All Cancers, Diabetes and Heart Disease combined” – (Hoy et al, 2014). A massive thanks to Gavin Routledge for writing this piece on lower back pain; an in-depth, stats-packed insightful read! ?? Read the entry via the ???? ! https://lnkd.in/eESGcDR7

Today, on annual Rare Disease Day, it's a good opportunity to advocate for equality for these patients in all aspects too. Rare disease affect worldwide way over 350 million people and the majority are children. Skeletal rare diseases alone, including osteogenesis imperfecta, juvenile Paget’s disease, or osteopetrosis, represent just a few among over 400 developmental abnormalities affecting the skeletal system. POROUS develops ultrasound cortical bone microstructure assessments to enable research in skeletal rare diseases and solve current diagnostic challenges. We also like to draw attention to the atlas of rare diseases of the IOF Working Group on Skeletal Rare Diseases:?https://lnkd.in/ennQNzPu. This atlas categorizes over 90 rare genetic metabolic bone disorders according to their metabolic pathogenesis, serving as a valuable resource for doctors. ? #RareDiseaseDay #RareBoneDisease #BoneQuality #Bonemicrostructure #BoneUltrasound

Early diagnosis is key

??? Did you know that Age-Related Macular Degeneration (AMD) is a leading cause of vision loss, affecting over 11 million Americans? AMD targets the macula, the crucial part of the retina responsible for sharp, central vision, making everyday activities like reading, driving, and recognizing faces challenging. As we observe AMD/Low Vision Awareness Month, it's vital to understand the signs and risks associated with this retinal disease. Visit preventblindness.org to learn more.

?? National Celiac Awareness Day ?? Today, we shine a light on Celiac Disease, an autoimmune disorder that affects millions worldwide. Early diagnosis and a gluten-free lifestyle can help patients manage their symptoms and improve their quality of life. Let’s raise awareness, support those affected, and advocate for better understanding and care. Together, we can make a difference. ?? #NationalCeliacAwarenessDay #CeliacDisease #CeliacAwareness #GlutenFreeLife #PatientCare #HealthcareProfessionals #AutoimmuneAwareness

Stanford University’s 6th Annual Neuromuscular Conference: Evaluating Bulbar Function in the Era of Disease Modifying Treatments will be held Saturday, January 25, 2025. Register now for early bird rates for this hybrid event! This conference will address the lack of evaluation of bulbar function in neuromuscular diseases, focusing on assessment and treatment strategies. Attendees will learn to enhance care and optimize clinical outcomes by incorporating patient perspectives. #NeuromuscularDisease #BulbarFunction

Parkinson's disease (#PD) involves dysregulated neuroimmune crosstalk and gut-brain axis inflammation. In their recent preprint, Team Liddle assessed the mechanisms linking iron dysregulation and immune dysfunction to gastrointestinal dysfunction that is seen in many individuals living with #ParkinsonsDisease. Check out their latest #preprint to learn more about their findings. https://bit.ly/486FrK8

Facts to share

April is Parkinson's Disease Awareness Month. Did you know that there's a significant link between traumatic brain injury (TBI) and Parkinson's disease (PD)? Studies have found that elderly adults with a history of TBI have a higher risk of developing PD. Learn more about TBI and PD from The Michael J. Fox Foundation for Parkinson's Research: bit.ly/4bakJsK At the TBI Action Alliance, we're dedicated to accelerating research and development focused on diagnosing and treating TBIs to reduce TBI-related symptoms, such as PD. Join us in spreading awareness about Parkinson's Disease and TBI this month. #ParkinsonsAwareness #TBIActionAlliance #TBI