Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Some types are also associated with problems in other organs.
The Muscular Dystrophy Association (MDA) is an American 501(c)(3) umbrella organization that works to support people with neuromuscular diseases. Founded in 1950 by Paul Cohen, who lived with muscular dystrophy, it works to combat neuromuscular disorders by funding research, providing medical and community services and educating health professionals and the general public and contributed more than $1 billion toward researching therapies and cures, helping to fund the identification of the dystrophin gene responsible for Duchenne muscular dystrophy as well as prospective treatments.
Dystrophin is a rod-shaped cytoplasmic protein, and a vital part of a protein complex that connects the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This complex is variously known as the costamere or the dystrophin-associated protein complex (DAPC). Many muscle proteins, such as α-dystrobrevin, syncoilin, synemin, sarcoglycan, dystroglycan, and sarcospan, colocalize with dystrophin at the costamere. It has a molecular weight of 427 kDa
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis followed by the arms. This can result in trouble standing up. Most are unable to walk by the age of 12. Affected muscles may look larger due to increased fat content. Scoliosis is also common. Some may have intellectual disability. Females with a single copy of the defective gene may show mild symptoms.
Becker muscular dystrophy is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy. This is caused by mutations in the dystrophin gene, which encodes the protein dystrophin. Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene, but has a milder course.
Muscular Dystrophy UK is a UK charity focusing on muscular dystrophy and related conditions. They seek to cure or find treatments for muscular dystrophy and other muscle-wasting conditions, and to improve the lives of those affected.
Muscular Dystrophy Canada (MDC) is a non-profit organization that strives to find a cure for neuromuscular disorders. Founded in 1954 as Muscular Dystrophy Association of Canada, volunteers and staff nationwide have helped to provide support and resources to those affected. Since the founding year, over $64 million has been put towards research via collaborations, fundraising events, and donations.
The dystrophin-associated protein complex, also known as the dystrophin-associated glycoprotein complex is a multiprotein complex that includes dystrophin and the dystrophin-associated proteins. It is one of the two protein complexes that make up the costamere in striated muscle cells. The other complex is the integrin-vinculin-talin complex.
Deflazacort is a glucocorticoid used as an anti-inflammatory and immunomodulatory agent. It was patented in 1965 and approved for medical use in 1985. The U.S. Food and Drug Administration (FDA) considers it to be a first-in-class medication for Duchenne Muscular Dystrophy.
Darius Goes West: The Roll of his Life is a documentary film by Logan Smalley about Darius Weems, a teenager living with Duchenne muscular dystrophy. In the middle of 2005 Weems embarked on a 7,000 mile road trip across the United States from his hometown in Georgia to MTV Headquarters in Los Angeles to ask them to customize his wheelchair on Pimp My Ride, as well to promote awareness of the fatal disease Duchenne muscular dystrophy, and to raise money for research into a cure.
The Essentials was a Canadian a cappella group founded in London, Ontario, Canada in 1993, that were based out of Toronto from 2000 onward. Band co-founders Joon Nah and Joe Oliva attended London Central Secondary School where they co-founded a predecessor a cappella group to The Essentials, called The Humdingers.
In molecular biology, exon skipping is a form of RNA splicing used to cause cells to “skip” over faulty or misaligned sections (exons) of genetic code, leading to a truncated but still functional protein despite the genetic mutation.
Emily Reuben is a reporter and presenter on British television's Now with CNN.
Eteplirsen is a medication to treat, but not cure, some types of Duchenne muscular dystrophy (DMD), caused by a specific mutation. Eteplirsen only targets specific mutations and can be used to treat about 14% of DMD cases. Eteplirsen is a form of antisense therapy.
The Paul D. Wellstone Muscular Dystrophy Community Assistance, Research and Education Amendments of 2013 is a United States public law that amends the Public Health Service Act to revise the muscular dystrophy research program of the National Institutes of Health (NIH).
H. Lee Sweeney is an American scientist who studies muscle.
Vamorolone is a synthetic steroid, which is under development for the treatment of Duchenne muscular dystrophy.
Viltolarsen, sold under the brand name Viltepso, is a medication used for the treatment of Duchenne muscular dystrophy (DMD). Viltolarsen is a Morpholino antisense oligonucleotide.
Cure Rare Disease is a non-profit biotechnology company based in Boston, Massachusetts that is working to create novel therapeutics using gene therapy, gene editing and antisense oligonucleotides to treat people impacted by rare and ultra-rare genetic neuromuscular conditions.
Toshifumi (Toshi) Yokota is a medical scientist and professor of medical genetics at the University of Alberta, where he also holds the titles of the Friends of Garrett Cumming Research & Muscular Dystrophy Canada Endowed Research Chair and the Henri M. Toupin Chair in Neurological Science. He is best known for his studies of antisense oligonucleotide-based therapeutics for muscular dystrophy that led to the development of an FDA-approved drug viltolarsen. His research interests include precision medicine for muscular dystrophy and genetic diseases. He has co-edited two books both published in the Methods in Molecular Biology series from Humana Press, Springer-Nature, and has published more than 100 refereed papers and patents. He is a member of the editorial boards for the International Journal of Molecular Sciences, Genes, Frontiers in Genome Editing, Frontiers in Physiology, and Nucleic Acid Therapeutics, a member of the Medical and Scientific Advisory Committee of Muscular Dystrophy Canada, and a co-founder of the Canadian Neuromuscular Network (CAN-NMD).
