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.
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 and was hosted by Jerry Lewis, who also served as MDA's national chairman.
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 (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. 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.
This is a timeline of HIV/AIDS, including cases before 1980.
People With AIDS (PWA) means "person with HIV/AIDS", also sometimes phrased as Person Living with AIDS. It is a term of self-empowerment, adopted by those with the virus in the early years of the pandemic, as an alternative to the passive implications of "AIDS patient". The phrase arose largely from the ACT UP activist community, however use of the term may or may not indicate that the person is associated with any particular political group.
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.
Robert Boyle "Bobbi" Campbell Jr. was a public health nurse and an early United States AIDS activist. In September 1981, Campbell became the 16th person in San Francisco to be diagnosed with Kaposi's sarcoma, when that was a proxy for an AIDS diagnosis. He was the first to come out publicly as a person with what came to be known as AIDS, writing a regular column in the San Francisco Sentinel, syndicated nationwide, describing his experiences and posting photos of his KS lesions to help other San Franciscans know what to look for, as well as helping write the first San Francisco safer sex manual.
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.
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.
Diplegia, when used singularly, refers to paralysis affecting symmetrical parts of the body. This is different from hemiplegia which refers to spasticity restricted to one side of the body, paraplegia which refers to paralysis restricted to the legs and hip, and quadriplegia which requires the involvement of all four limbs but not necessarily symmetrical. Diplegia is the most common cause of crippling in children, specifically in children with cerebral palsy. Other causes may be due to injury of the spinal cord. There is no set course of progression for people with diplegia. Symptoms may get worse but the neurological part does not change. The primary parts of the brain that are affected by diplegia are the ventricles, fluid filled compartments in the brain, and the wiring from the center of the brain to the cerebral cortex. There is also usually some degeneration of the cerebral neurons, as well as problems in the upper motor neuron system. The term diplegia can refer to any bodily area, such as the face, arms, or legs.
Deflazacort is a glucocorticoid belonging to acetonides or O-isopropylidene derivative. It is used as an anti-inflammatory and was patented in 1969 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.
Common Threads: Stories from the Quilt is a 1989 American documentary film that tells the story of the NAMES Project AIDS Memorial Quilt. Narrated by Dustin Hoffman, with a musical score written and performed by Bobby McFerrin, the film focuses on several people who are represented by panels in the Quilt, combining personal reminiscences with archive footage of the subjects, along with footage of various politicians, health professionals and other people with AIDS. Each section of the film is punctuated with statistics detailing the number of Americans diagnosed with and dead from AIDS through the early years of the epidemic. The film ends with the first display of the complete Quilt at the National Mall in Washington, D.C., during the 1987 Second National March on Washington for Lesbian and Gay Rights.
Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. In DM, muscles are often unable to relax after contraction. Other manifestations may include cataracts, intellectual disability and heart conduction problems. In men, there may be early balding and an inability to father children. While myotonic dystrophy can occur at any age, onset is typically in the 20s and 30s.
Bethlem myopathy is predominantly an autosomal dominant myopathy, classified as a congenital form of limb-girdle muscular dystrophy. There are two types of Bethlem myopathy, based on which type of collagen is affected.
Laura Ann Hershey was a poet, journalist, popular speaker, feminist, and a disability rights activist and consultant. Known to have parked her wheelchair in front of buses, Hershey was one of the leaders of a protest against the paternalistic attitudes and images of people with disabilities inherent to Jerry Lewis's MDA Telethon. She was a regular columnist for the Christopher and Dana Reeve Foundation, and on her own website, Crip Commentary, and was published in a variety of magazines and websites. She was admired for her wit, her ability to structure strong arguments in the service of justice, and her spirited refusal to let social responses to her spinal muscular atrophy define the parameters of her life as anything less than a full human existence. She was also the mother of an adopted daughter.
Bryson Foster is a noted teen activist who advocates and fundraises for the development of treatments for muscular dystrophy.
