News

For many people living with generalized myasthenia gravis (gMG), the journey is not just defined by symptoms—it’s shaped by uncertainty. Uncertainty in diagnosis. Uncertainty in treatment. And for a significant subset of the community, uncertainty in whether therapies designed for others will work for them at all. That’s why moments like this matter. The recent… The post When “No Options” Starts to Change: A New Chapter for Seronegative Myasthenia Gravis appeared first on Quest | Muscular Dystrophy Association.

I have been writing here about my family since August 2021. My husband, Jason, and I share seven children: Lexi, 25; Max, 20; Chance, 19; Rowen, 17; Charlie, 15; Mary, 11; and Callie, 4. Max, Rowen, and Charlie have Duchenne muscular dystrophy (DMD). In my first column, I shared that my husband and I were The post Talking with my daughter about her journey with DMD carrier status appeared first on Muscular Dystrophy News.

Quest Media is an innovative, adaptive lifestyle platform from MDA. With the power of this platform, we foster awareness and empowerment and have important conversations with experts, thought leaders, and members of the neuromuscular disease community about topics that matter to them and to the larger community of individuals with disabilities. With so many valuable… The post In Case You Missed It… appeared first on Quest | Muscular Dystrophy Association.

Motherhood is an incredible journey, layered with joy, growth, challenges, victories, and an abundance of love. For moms living with neuromuscular disease, the role of motherhood can sometimes entail additional layers, requiring extra patience, adaptability, and resilience. But, with a beautiful harmony, those very traits are often strengthened through daily life with a disability and… The post The Joy (and Lessons) of Motherhood from MDA Ambassadors appeared first on Quest | Muscular Dystrophy Association.

Epicrispr Biotechnologies is partnering with Forge Biologics to support the development of EPI-321, Epicrispr’s one-time epigenetic treatment candidate for facioscapulohumeral muscular dystrophy (FSHD). The treatment uses epigenetics — chemical modifications that can alter gene activity without changing a gene’s DNA sequence — to turn off the abnormally-activated gene that underlies FSHD. According to the developer, The post Companies join forces to speed production of 1-time treatment for FSHD appeared first on Muscular Dystrophy News.

The death of my dear friend Timothy Chan last month still affects me deeply. A couple weeks ago, I stood at his memorial, speaking about a friend who had lived fully despite the barriers associated with a lack of awareness about Duchenne muscular dystrophy (DMD) here in Singapore. Now, I’m considering how best to carry The post One way to process loss is by advocating for lasting change appeared first on Muscular Dystrophy News.

Regulators in the European Union have granted orphan drug designation to SGT-003, a gene therapy for Duchenne muscular dystrophy (DMD) that’s being developed by Solid Biosciences. The treatment candidate, already awarded orphan drug status in the U.S., aims to preserve muscle health in boys with DMD. This new designation, by the European Commission, is granted The post European regulators back new DMD gene therapy with key status appeared first on Muscular Dystrophy News.

Monica Torres is a 42-year-old mom of 6. Monica was born and raised in Puerto Rico and recently moved to the city of New York. She has a service dog name Cloe. Being diagnosed with ALS is a moment that will forever stay with me. It felt as though time paused, and in that silence,… The post MDA Ambassador Guest Blog: ALS is Not the End of My Story appeared first on Quest | Muscular Dystrophy Association.

Researchers at participating clinical research sites are seeking individuals with amyotrophic lateral sclerosis (ALS) for a phase 3 study (PREVAiLS). This study will evaluate the safety and efficacy of the investigational drug pridopidine to treat ALS. Pridopidine, which is being developed by Prilenia Therapeutics and Ferrer, has shown neuroprotective effects in multiple preclinical studies, as… The post Clinical Research Alert: Phase 3 Study of Pridopidine in Individuals with ALS appeared first on Quest | Muscular Dystrophy Association.

My son Charlie has recently been unable to get into his power wheelchair on his own, and I know I am watching him lose the ability to ambulate, as I did with two of my other sons. Charlie, 15, like his brothers Max, 20, and Rowen, 17, lives with Duchenne muscular dystrophy (DMD). I also The post I am watching a child lose his independence for the third time appeared first on Muscular Dystrophy News.

Q&A with Fiona Cauley about her comedy, accessibility challenges, and advocacy living with Friedreich ataxia (FA). The post Comedian Fiona Cauley Shares Humor While Raising Disability Awareness appeared first on Quest | Muscular Dystrophy Association.

This month, the Muscular Dystrophy Association (MDA) is launching an important advocacy campaign urging Congress to advance policies that improve the lives of family caregivers in the neuromuscular community. At a time when policymakers are actively weighing changes to home and community-based services and the cost of caregiving continues to rise, it has never been… The post The Why Behind MDA’s Campaign to Support Family Caregivers appeared first on Quest | Muscular Dystrophy Association.

CureDuchenne will host its annual Futures National Conference, a four-day event focused on bringing education, connection, and hope to the Duchenne and Becker muscular dystrophy (MD) community. The event will be held on May 21-24 at the JW Marriott Orlando, Grande Lakes. It will highlight the latest research and therapies for Duchenne and Becker, and feature The post CureDuchenne’s annual conference to highlight research, family support appeared first on Muscular Dystrophy News.

One problem dealing with a progressive disease like facioscapulohumeral muscular dystrophy (FSHD) is that there’s no way to predict the pace of disease progression. I think this is true for the aging process as well. In my case, it may also apply to the joint deterioration I’ve experienced following a horrifying automobile accident years ago. The post With my mobility severely limited, I’m in dire need of a wheelchair appeared first on Muscular Dystrophy News.

The Committee for Medicinal Products for Human Use (CHMP) has recommended that approval of Agamree (vamorolone) in the European Union be expanded to include people with Duchenne muscular dystrophy (DMD) as young as 2. The CHMP is an arm of the European Medicines Agency (EMA) tasked with reviewing data on experimental therapies. The committee’s recommendation The post EU panel recommends expanded use of DMD treatment Agamree appeared first on Muscular Dystrophy News.

CIAO1-related neuromuscular disorder is an inherited condition that was first reported on in late 2023. It is caused by variants in the CIAO1 gene and primarily affects muscle function, though many affected people also experience problems with the nervous system. Much about the symptoms and progression of this newly discovered condition remains to be defined.… The post Simply Stated: Introduction to CIAO1-Related Neuromuscular Disorder appeared first on Quest | Muscular Dystrophy Association.

Edward Smith, MD, explains the importance of setting clear expectations around treatment benefits and risks.a The post Setting expectations for treatment adherence in Duchenne care appeared first on Muscular Dystrophy News.

Shalom Lim shares how early diagnosis shaped a lifelong approach to daily care and routines. The post Building routines that support Duchenne care appeared first on Muscular Dystrophy News.

By nature, medical emergencies are unexpected, stressful, and often traumatic experiences. For those living with neuromuscular disease (NMD), seeking emergent medical attention due to an injury or illness carries additional layers of important considerations. Depending on one’s diagnosis, there can be significant medical risks that arise during standard treatments or protocols. While medical staff are… The post Expert Advice for Preparing for Medical Emergencies with NMD appeared first on Quest | Muscular Dystrophy Association.

Researchers at Biogen are seeking pediatric FA patients to participate in a phase 3 clinical trial to better understand Friedreich ataxia (FA) and to evaluate omaveloxolone, an investigational therapy for children and teenagers with FA. The study  Children and teenagers with FA who are 2 to 15 years old may be eligible to participate in… The post Clinical Research Alert: Phase 3 Study of Omaveloxolone in Children and Teenagers with Friedreich Ataxia (FA) appeared first on Quest | Muscular Dystrophy Association.

What happens after a drug is approved? Sometimes research continues to make it more effective, convenient, or targeted to a neuromuscular disease. The post Beyond Approval: Why Drug Development Doesn’t End at FDA Sign-Off appeared first on Quest | Muscular Dystrophy Association.

Bio: Rebecca Hume is a Senior Specialist Writer for Quest Media. She graduated from Slippery Rock University and worked in the Pennsylvania Medicaid Waiver Program for more than 10 years before coming to MDA. Rebecca was an MDA Care & Clinical Services Specialist and MDA Camp Director prior to accepting her role as a Quest… The post How MDA Summer Camp Influenced the Direction of My Life appeared first on Quest | Muscular Dystrophy Association.

Researchers at Shionogi Inc. are conducting a phase 2 clinical trial for adults with late-onset Pompe disease (LOPD) who are receiving standard-of-care enzyme replacement therapy (ERT). The study will evaluate the safety, effectiveness, and processing in the body of the investigational drug S-606001 when used as an add-on to ERT. S-606001 blocks an enzyme involved… The post Clinical Research Alert: Clinical Study for Adults with Late-Onset Pompe Disease (LOPD) appeared first on Quest | Muscular Dystrophy Association.

In the movie “Extraordinary Measures,” Dr. Stonehill invented a treatment for Pompe disease. This is the true story of how John Crowley helped save his children’s lives. The post Pompe Disease and the Real Story Behind Dr. Stonehill, John Crowley, and ‘Extraordinary Measures’ appeared first on Quest | Muscular Dystrophy Association.

Kathryn Arvidson champions accessible mental health treatment for people with disabilities.  Kathryn was diagnosed as a child with a rare degenerative neuromuscular disorder, Pompe disease, that impacts her mobility and pulmonary functioning.  Kathryn earned a master’s degree in social work and served as a Licensed Clinical Social Worker and supervisor for licensed professional counselors in… The post MDA Ambassador Guest Blog: My Pompe Journey appeared first on Quest | Muscular Dystrophy Association.