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.
Atrophy is the partial or complete wasting away of a part of the body. Causes of atrophy include mutations, poor nourishment, poor circulation, loss of hormonal support, loss of nerve supply to the target organ, excessive amount of apoptosis of cells, and disuse or lack of exercise or disease intrinsic to the tissue itself. In medical practice, hormonal and nerve inputs that maintain an organ or body part are said to have trophic effects. A diminished muscular trophic condition is designated as atrophy. Atrophy is reduction in size of cell, organ or tissue, after attaining its normal mature growth. In contrast, hypoplasia is the reduction in the cellular numbers of an organ, or tissue that has not attained normal maturity.
Gabrielle Nicole Logan is a Welsh television and radio presenter, and a former rhythmic gymnast who represented Wales and Great Britain. She hosted Final Score for BBC Sport from 2009 until 2013. She has also presented live sports events for the BBC, including a revived episode of Superstars in December 2012 and the London Marathon since 2015. Since 2013, she has co-hosted Sports Personality of the Year for the BBC and she presented the second series of The Edge in 2015.
Muscular Dystrophy Association (MDA) is an American nonprofit organization dedicated to supporting people living with muscular dystrophy, ALS, and related neuromuscular diseases. Founded in 1950 by Paul Cohen, who lived with muscular dystrophy, MDA accelerates research, advances care, and works to empower families to live longer and more independent lives. Renowned for The MDA Labor Day Telethon, the annual telecast aired live from 1966 to 2010, hosted by Jerry Lewis, who also served as MDA's national chairman. Don Rickles, Frank Sinatra, Sammy Davis, Jr., Milton Berle, Wayne Newton, Norm Crosby, Don Francisco, Tony Orlando, Johnny Carson, Aretha Franklin, Maureen McGovern, Diana Ross, Angela Lansbury and others have also supported MDA over the years. The organization's headquarters is in Chicago, Illinois.
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy predominantly affecting boys. The onset of muscle weakness typically begins around age four, with rapid progression. Initially, muscle loss occurs in the thighs and pelvis, extending to the arms, which can lead to difficulties in standing up. By the age of 12, most individuals with Duchenne muscular dystrophy are unable to walk. Affected muscles may appear larger due to an increase in fat content, and scoliosis is common. Some individuals may experience intellectual disability, and females carrying a single copy of the mutated gene may show mild symptoms.
Becker muscular dystrophy (BMD) is an X-linked recessive inherited disorder characterized by slowly progressing muscle weakness of the legs and pelvis. It is a type of dystrophinopathy. The cause is mutations and deletions in any of the 79 exons encoding the large dystrophin protein, essential for maintaining the muscle fiber's cell membrane integrity. Becker muscular dystrophy is related to Duchenne muscular dystrophy in that both result from a mutation in the dystrophin gene, however the hallmark of Becker is milder in-frame deletions. and hence has a milder course, with patients maintaining ambulation till 50–60 years if detected early.
The Leverhulme Trust is a large national grant-making organisation in the United Kingdom. It was established in 1925 under the will of the 1st Viscount Leverhulme (1851–1925), with the instruction that its resources should be used to cover certain trade charities and support "scholarships for the purposes of research and education." Over time, it has come to focus on the latter aim.
Action Medical Research, previously The National Fund for Research into Crippling Diseases, is a British medical research charity, founded in 1952, that focusses on funding research to prevent and treat disease and disability in babies and children.
In medicine, myopathy is a disease of the muscle in which the muscle fibers do not function properly. Myopathy means muscle disease. This meaning implies that the primary defect is within the muscle, as opposed to the nerves or elsewhere.
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.
Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that position the scapula, and those overlying the humerus bone of the upper arm. These areas can be spared, and muscles of other areas usually are affected, especially those of the chest, abdomen, spine, and shin. Almost any skeletal muscle can be affected in advanced disease. Abnormally positioned, termed 'winged', scapulas are common, as is the inability to lift the foot, known as foot drop. The two sides of the body are often affected unequally. Weakness typically manifests at ages 15 – 30 years. FSHD can also cause hearing loss and blood vessel abnormalities at the back of the eye.
Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.
Muscle atrophy is the loss of skeletal muscle mass. It can be caused by immobility, aging, malnutrition, medications, or a wide range of injuries or diseases that impact the musculoskeletal or nervous system. Muscle atrophy leads to muscle weakness and causes disability.
Emery–Dreifuss muscular dystrophy (EDMD) is a type of muscular dystrophy, a group of heritable diseases that cause progressive impairment of muscles. EDMD affects muscles used for movement, causing atrophy, weakness and contractures. It almost always affects the heart, causing abnormal rhythms, heart failure, or sudden cardiac death. It is rare, affecting 0.39 per 100,000 people. It is named after Alan Eglin H. Emery and Fritz E. Dreifuss.
Camptocormia, also known as bent spine syndrome (BSS), is a symptom of a multitude of diseases that is most commonly seen in the elderly. It is identified by an abnormal thoracolumbar spinal flexion, which is a forward bending of the lower joints of the spine, occurring in a standing position. In order to be classified as BSS, the anterior flexion must be of 45 degrees anteriorly. This classification differentiates it from a similar syndrome known as kyphosis. Although camptocormia is a symptom of many diseases, there are two common origins: neurological and muscular. Camptocormia is treated by alleviating the underlying condition causing it through therapeutic measures or lifestyle changes.
Richard Samuel Attenborough, Baron Attenborough, was an English actor, film director, and producer.
Victor Dubowitz, FRCP, Hon FRCPCH is a British neurologist and professor emeritus at Imperial College London. He is principally known along with his wife Lilly Dubowitz for developing two clinical tests, the Dubowitz Score to estimate gestational age and the other for the systematic neurological examination of the newborn.
Mary M. Reilly FRCP is an Irish neurologist who works at National Hospital for Neurology and Neurosurgery. She studies peripheral neuropathy. She is the President of the Association of British Neurologists.
David Gardner-Medwin was a British physician who worked as a paediatric neurologist in Newcastle upon Tyne, serving as the only neurologist for children for a population of 3.5 million. He is credited with introducing multidisciplinary care to the management of boys with Duchenne muscular dystrophy (DMD). When he retired at the age of 60, four consultants were appointed to replace him.
