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.
Limb–girdle muscular dystrophy (LGMD) is a genetically heterogeneous group of rare muscular dystrophies that share a set of clinical characteristics. It is characterised by progressive muscle wasting which affects predominantly hip and shoulder muscles. LGMD usually has an autosomal pattern of inheritance. It currently has no known cure or treatment.
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.
Boccia is a precision ball sport, similar to bocce, and related to bowls and pétanque. The name "boccia" is derived from the Latin word for "boss" – bottia. The sport is contested at local, national and international levels, by athletes with severe physical disabilities. It was originally designed to be played by people with cerebral palsy but now includes athletes with other severe disabilities affecting motor skills. In 1984, it became a Paralympic sport and as of 2020, 75 boccia national organizations have joined one or more of the international organizations. Boccia is governed by the Boccia International Sports Federation (BISFed) and is one of only two Paralympic sports that have no counterpart in the Olympic program.
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.
Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. It can be autosomal dominant neuromuscular disease or autosomal recessive. The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be present in each cell. Children of an affected parent have a 50% chance of inheriting the mutant gene.
Kim Tserkezie is a British actress, producer, author and presenter.
The MDA Labor Day Telethon was an annual telethon held on Labor Day in the United States to raise money for the Muscular Dystrophy Association (MDA). The Muscular Dystrophy Association was founded in 1950 with hopes of gaining the American public's interest. The show was hosted by comedian, actor, singer and filmmaker Jerry Lewis from its 1966 inception until 2010. The history of MDA's telethon dates back to the 1950s, when the Jerry Lewis Thanksgiving Party for MDA raised funds for the organization's New York City area operations. The telethon was held annually on Labor Day weekend beginning in 1966, and raised $2.45 billion for MDA from its inception through 2009.
Susan Perlman is a Professor in the Department of Neurology at the David Geffen School of Medicine at UCLA. She is also Director of Ataxia and Neurogenetics Program and Post-polio Program at that school. She has long been the primary investigator for Friedreich's ataxia trials and sits on the Medical Advisory Board of the National Ataxia Foundation.
The Crohn's & Colitis Foundation (CCF) is a volunteer-driven non-profit organization dedicated to finding cures for Crohn's disease and ulcerative colitis and improving the quality of life of children and adults affected by these digestive diseases. Founded by Shelby Modell and Irwin M. Rosenthal, and formerly known as National Foundation for Ileitis and Colitis and Crohn's and Colitis Foundation of America, it was incorporated on December 17, 1965. CCF has more than 50,000 members, served by the national headquarters, as well as over 40 chapters nationwide.
Sebastian Spreng is an Argentine-born American visual artist and music journalist. He is a self-taught artist. He lives in Bay Harbor Islands, Florida.
The International Dravet Epilepsy Action League is an American non-profit organization that has created an international partnership of parents and professionals with the purpose of creating greater awareness and understanding of Dravet syndrome and the spectrum of related genetic forms of epilepsy. The IDEA League is a nonprofit organization that was founded by parents of children with Dravet syndrome in October 2005. The National Institutes of Health direct individuals seeking information on Dravet Syndrome to the IDEA League. The IDEA League represents Dravet Syndrome and is a member of the National Organization for Rare Disorders (NORD).
Edward F. Coppinger is an American politician who represents the 10th Suffolk District in the Massachusetts House of Representatives. Coppinger was sworn into office in January 2011. His district covers all of West Roxbury, South Brookline, and a portion of Roslindale. He lives in West Roxbury, Massachusetts with his wife and four daughters.
Nicholas Albert "Nick" D'Agostino is an American motivational speaker, author, coach, radio host, nonprofit founder, and entrepreneur.
EuroBioBank is an organization which manages a network of biobanks in Europe. It provides human DNA, cell, and tissue samples to the scientific community for research on rare diseases.
Sangarsh is an annual fund-raising musical concert organised by Rotaract club of CEG, Anna University, Chennai. Sangarsh is focused at aiding the needy sections of the society. Many eminent playback singers have made their presence over the years. Actor Kamal Hassan was the patron for Sangarsh'11. Oscar-winning Music Director A.R.Rahman was the patron of Sangarsh'12. Veteran actor Prakash Raj and actor Srikanth were the patrons for Sangarsh'13.
Patricia Verne Kailis was an Australian business woman, geneticist and neurologist noted for her work in genetic counseling for neurological and neuromuscular disorders.
Electrodiagnosis (EDX) is a method of medical diagnosis that obtains information about diseases by passively recording the electrical activity of body parts or by measuring their response to external electrical stimuli. The most widely used methods of recording spontaneous electrical activity are various forms of electrodiagnostic testing (electrography) such as electrocardiography (ECG), electroencephalography (EEG), and electromyography (EMG). Electrodiagnostic medicine is a medical subspecialty of neurology, clinical neurophysiology, cardiology, and physical medicine and rehabilitation. Electrodiagnostic physicians apply electrophysiologic techniques, including needle electromyography and nerve conduction studies to diagnose, evaluate, and treat people with impairments of the neurologic, neuromuscular, and/or muscular systems. The provision of a quality electrodiagnostic medical evaluation requires extensive scientific knowledge that includes anatomy and physiology of the peripheral nerves and muscles, the physics and biology of the electrical signals generated by muscle and nerve, the instrumentation used to process these signals, and techniques for clinical evaluation of diseases of the peripheral nerves and sensory pathways.
Kyle Bryant is an athlete, speaker and the spokesperson for the Friedreich's Ataxia Research Alliance (FARA). Bryant is the founder and event director of rideATAXIA – a nationwide bike ride fundraiser benefiting FARA.
