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.
Guillaume-Benjamin-Amand Duchenne was a French neurologist who revived Galvani's research and greatly advanced the science of electrophysiology. The era of modern neurology developed from Duchenne's understanding of neural pathways and his diagnostic innovations including deep tissue biopsy, nerve conduction tests (NCS), and clinical photography. This extraordinary range of activities was achieved against the background of a troubled personal life and a generally indifferent medical and scientific establishment.
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.
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.
Antisense therapy is a form of treatment that uses antisense oligonucleotides (ASOs) to target messenger RNA (mRNA). ASOs are capable of altering mRNA expression through a variety of mechanisms, including ribonuclease H mediated decay of the pre-mRNA, direct steric blockage, and exon content modulation through splicing site binding on pre-mRNA. Several ASOs have been approved in the United States, the European Union, and elsewhere.
Martin James "Marty" Schreiber is an American politician, publisher, author, and lobbyist who served as the 38th Lieutenant Governor of Wisconsin, and, the 39th Governor of Wisconsin from 1977 to 1979. Schreiber has become an advocate on issues related to Alzheimer's disease and dementia.
Martin House is a charity that provides hospice care for children and young people across West, North and East Yorkshire. It provides family-led care to children and young people with life-limiting and life-threatening illnesses, either at the hospice or in families' own homes.
Craig Haydn Roberts is a Welsh actor. He is best known for lead roles as Oliver Tate in the coming-of-age comedy-drama film Submarine (2010) and David Meyers in the series Red Oaks (2014–2017), and for playing Rio Wellard in the television series The Story of Tracy Beaker (2004–2006).
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.
Ataluren, sold under the brand name Translarna, is a medication for the treatment of Duchenne muscular dystrophy. It was designed by PTC Therapeutics.
Jonathan Evison is an American writer known for his novels All About Lulu, West of Here, The Revised Fundamentals of Caregiving, This Is Your Life, Harriet Chance!, Lawn Boy, Legends of the North Cascades, and most recently Small World. His work, often distinguished by its emotional resonance and offbeat humor, has been compared by critics to a variety of authors, most notably J.D. Salinger, Charles Dickens, T.C. Boyle, and John Irving. Sherman Alexie has called Evison "the most honest white man alive."
Caregiver syndrome or caregiver stress is a condition that strongly manifests exhaustion, anger, rage, or guilt resulting from unrelieved caring for a chronically ill patient. This condition is not listed in the United States' Diagnostic and Statistical Manual of Mental Disorders, although the term is often used by many healthcare professionals in that country. The equivalent used in many other countries, the ICD-11, does include the condition.
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.
Sunil Pradhan is an Indian neurologist, medical researcher and writer, known for the invention of two electrophysiological techniques. He has also described five medical signs, of which one related to Duchenne muscular dystrophy is known as Pradhan Sign, and the others associated with facioscapulohumeral muscular dystrophy (FSHD) and similar neuro diseases. The Government of India awarded him the Padma Shri, the fourth highest civilian award, in 2014 for his contributions to the field of neuroscience.
The Fundamentals of Caring is a 2016 American road comedy-drama film written and directed by Rob Burnett, based on the 2012 novel The Revised Fundamentals of Caregiving by Jonathan Evison. Starring Paul Rudd, Craig Roberts, and Selena Gomez, the film had its world premiere at the Sundance Film Festival on January 29, 2016, and was released on Netflix on June 24, 2016.
The goal of physical and occupational therapy in Duchenne muscular dystrophy is to obtain a clear understanding of the individual, of their social circumstances and of their environment in order to develop a treatment plan that will improve their quality of life. Individuals with DMD often experience difficulties in areas of self-care, productivity and leisure. This is related to the effects of the disorder, such as decreased mobility; decreased strength and postural stability; progressive deterioration of upper-limb function; and contractures. Occupational and physical therapists address an individual's limitations using meaningful occupations and by grading the activity, by using different assessments and resources such as splinting, bracing, manual muscle testing (MMT), ROM, postural intervention and equipment prescription.
Nawaal Akram is a comedian, model, athlete and disability rights campaigner. She was diagnosed with Duchenne muscular dystrophy at the age of six, and was forcefully removed from education against her wishes at the age of 10 by the school; she became a wheelchair user at the age of 12. She has since founded Muscular Dystrophy Qatar to raise awareness of the condition, and was named one of BBC's 100 Women programme in 2017.
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).
