Finding strength in the fight against muscular dystrophy – The News Record

Posted: December 4, 2019 at 3:45 am

Its known as the silent killer.Symptoms begin with muscle weakness until eventually ones muscles are completely deteriorated.Its called muscular dystrophy, andit affects one in every 5,000 males.

Because it is rare, muscular dystrophy has not received the attention and research funding of more common diseases, according to University of Cincinnati researchers.

My experience is that if a person does not have a family member or relative or friend affected by muscular dystrophy, then they typically do not know about [muscular dystrophy], saysHani Kushlaf, associate professor of neurology and pathology, who sees patientswith the disease.

UC researchers are trying to change this lack of transparency by sharing their experiences with the disease. They understand that the goal of finding a cure for muscular dystrophy begins with awareness.

One person who truly understands the disease from both a medical professional standpoint and from personal experience is John Quinlan, director of the neuromuscular center at UCs Neuroscience Institute, who teaches as a professor and sees patients as a practicing neurologist with UC Health.

In an interview with UC Health, Quinlan said he chose neurology because he believed it was a field where there was a lot of puzzle-solving of complicated diagnoses such as his own muscular dystrophy.

Because I have some physical limitations, I saw when I was a medical student that I wasnt going to go into surgical areas, and so that made me think of the more internal medicine and subspecialties, Quinlan said.

Phillip Witcher, who is completing his doctorate at the College of Medicine, had Quinlan as a professor. He said he didnt know Quinlan had muscular dystrophy when he met him.

I just knew that he was in a wheelchair and that he was a smart professor, Witcher said.

Witcher himself is doing research on muscular dystrophy. He is in his first year of research on muscle cell fusion in the Doug Millay lab at Cincinnatis Childrens Hospital.

Witchers research focuses on themyomaker and myomergerm the proteins within muscular cells with the hope of helping patients with muscular dystrophy through cell therapy.

Muscular Dystrophy is caused bygenetic mutationsthat interfere with the production of proteins that are needed to build and maintain healthy muscles, according to the Muscular Dystrophy Association (MDA).

Imagine running a race. Your muscles are tired, and to recover they need to build new proteins to regain strength.The feeling for patients with muscular dystrophy is similar, except they never regain it. The reason muscular dystrophy is known as the silent killer is that this muscle deterioration is a slow process. The body gradually evolves into a physical shell.

Muscle weakness often leads to the curving of the spine, forcing many with it into a wheelchair if their failing muscles didnt force them into one already.It leads to the shortening of muscles and tendons and severe breathing issues. Eventually this advances to paralyzed mobility in most of the body. There is no cure.

One of the most intense and aggressive forms of muscular dystrophy is Duchenne Muscular Dystrophy (DMD). Muscle loss and weakness is caused by alterations ina protein calleddystrophin, which helps keep muscle cells whole. Symptoms for those who have DMD first present themselves in children at an early age and progressively get worse.

But today, people with DMD have a longer lifespan because research breakthroughs have created drugs and treatment options. Symptoms can kill. These treatment options help with treating the symptoms from muscular dystrophy. According to MDA,the life expectancy for those born with DMD is in the early 30s because of advances in cardiac and respiratory care.

We live in an exciting time for (treating) muscular dystrophies, Kushlaf said.

UC researchers agree: to find a cure, awareness needs to be shared and stories need to be told.

Witcher said diseases with more physical and behavioral cues, such as breast cancer, get media attention. Millions of people see the physical signs of chemotherapy of breast cancer patients, such as hair loss and are the Susan G. Komen Breast Cancer Foundation, the largest and best-funded cancer organization.

I dont think it is just the lack of awareness, Kushlaf said. Federal funding for research is typically allocated for common disorders more than rare disorders. Therefore, researchers of common diseases are more likely to get funded than those who study rare diseases.

Still, Kushlaf said awareness for Amyotrophic Lateral Sclerosis (ALS) increased during the viral ALS bucket challenge, which led to significant philanthropy and funding of ALS research projects.

Kushlaf said researchers are hopeful of a cure. The FDA approval of gene therapy for spinal muscular atrophy offer hope for a cure or significant improvements, he said. The next steps are to find out the effect of gene therapies on muscular dystrophies.

Curing muscular dystrophy is a complex dilemma, as the problem lies in the genetic makeup of the individual, Kushlaf said. The advent of gene therapy offers hope for a cure.

Previous therapies have had limited success because they only helped slow the progression of the dystrophy, according to Kushlaf.

Witcher said therapies for muscular dystrophy have evolved, but most are only treating symptoms and not the disease itself.

And thats where were really stuck right now figuring out how to move forward as far as treating the disease and not just the symptoms, Witcher said.

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Finding strength in the fight against muscular dystrophy - The News Record

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