characterized by progressive muscle degeneration and weakness. It is one of nine types of muscular dystrophy.
DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. Symptom onset is in early childhood, usually between ages 3 and 5. The disease primarily affects boys, but in rare cases it can affect girls.
What are the symptoms of DMD?
Muscle weakness can begin as early as age 3, first affecting the muscles of the hips, pelvic area, thighs and shoulders, and later the skeletal (voluntary) muscles in the arms, legs and trunk. The calves often are enlarged. By the early teens, the heart and respiratory muscles also are affected. For more about DMD symptoms, see Signs and Symptoms.
Becker muscular dystrophy (BMD) is a milder version of DMD. Its
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Duchenne muscular dystrophy was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860s, but until the 1980s, little was known about the cause of any kind of muscular dystrophy. In 1986, MDA-supported researchers identified a particular gene on the X chromosome that, when flawed (mutated), leads to DMD. In 1987, the protein associated with this gene was identified and named dystrophin. Lack of the dystrophin protein in muscle cells causes them to be fragile and easily damaged.
DMD has an X-linked recessive inheritance pattern and is passed on by the mother, who is referred to as acarrier. For more about the way gene mutations cause Duchenne dystrophy, see Causes/Inheritance.
What are DMD 'carriers'?
DMD carriers are females who have a normal dystrophin gene on one X chromosome and an abnormal dystrophin gene on the other X chromosome. Most carriers of DMD do not themselves have signs and symptoms of the disease, but a minority do. Symptoms can range from mild skeletal muscle weakness or cardiac involvement to severe weakness or cardiac effects and can begin in childhood or adulthood. For more, read Females and DMD in
DMD also known as muscular dystrophy is muscular disease that occurs on young boys around age four to six. Muscular dystrophy is genetically transmitted disease carried from parent to offspring. This disease progressively damages or disturbs skeletal and cardiac muscle functions starting on the lower limbs. Obviously by damaging the muscle, the lower limbs and other muscles affected become very weak. This is ultimately caused by the lack dystrophin, a protein the body produces.
Duchenne Muscular Dystrophy, also known as DMD, is the most common form of muscular dystrophy. Muscular dystrophy is a condition that is inherited, and it is when muscles slowly become more and more weak and wasted. Duchenne muscular dystrophy is a form of muscular dystrophy that is very rapid and is most commonly found in boys. In muscle, there is a protein named dystrophin. Dystrophin is encoded by the DMD gene. When boys have Duchenne muscular dystrophy, they do not produce enough dystrophin in their muscles. This causes weakness in their muscles. Parents can tell if their child has duchenne muscular dystrophy by looking for various symptoms.
Duchenne muscular dystrophy (DMD) is a muscular dystrophy that only occurs in boys. It is caused by the mutation of the DMD gene which is inheritable between families in an X-linked recessive, but it rarely occurs in people from families without a known family history of the condition. Starting from the lower limbs, people with DMD have progressive loss of muscle function and weakness. The DMD gene, which encodes the muscle protein, dystrophin, is the second largest gene. Boy’s muscle with Duchenne muscular dystrophy does not create the dystrophin. 1 in 3500 of the male births are approximately affected by the Duchenne muscular dystrophy.
ygyh.org - a. Duchenne's muscular dystrophy is named after the French neurologist, Guillaume B. A. Duchenne, who lived from 1806 to 1875. In 1861, he became the first person to describe the disorder. In 1951 Elizabeth Shull Russell, an American geneticist, accidentally observed Duchenne's muscular dystrophy in a colony of mice with which she was working. Over a number of years she discovered that muscular dystrophy was a sex linked trait contained on the x-chromosome. Narins, 798. -.
Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705.htm).
As motor neurons degenerate, this obviously means they can no longer send impulses to the muscle fibers that otherwise normally result in muscle movement. Early symptoms of ALS often include increasing muscle weakness, especially involving the arms and legs, speech, swallowing or breathing. When muscles no longer receive the messages from the motor neurons that they require to function, the muscles begin to atrophy (become smaller). Limbs begin to look thinner as muscle tissue atrophies (Choi, 1988).
Emery-Dreifuss muscular dystrophy is a genetic disease. It can express itself in three forms. This forms are:
ALD was first discovered by Ernst Siemerling and Hans Gerhard Creutzfeldt in 1923, but was never officially recognized until 1993. When ALD was first discovered it was called Siemerling- Creutzfeldt disease. Siemerling and Creutzfeldt describe it as “a rare, inherited, disorder that leads progressive brain disorders, failure of the adrenal glands and eventually death.”(The New York Times) ALD is a in a group of inherited disorders called leukodystrophys it is a group of disorders characterized by progressive degeneration of the white matter of the brain. (Leukodystrophys.)
Muscular dystrophy (MD) is a genetic disorder that weakens skeletal muscles, the muscles that enable the human body to move. People with muscular dystrophy have missing or incorrect information in their genes, which prevents them from making the proteins they need for healthy muscles. Due to fact that muscular dystrophy is genetic, it is not contagious or contractible from another person; a person must be born with the problem.
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
Some symptoms are of course muscle weakness, there can be the loss of muscle movement and the attacks of the individual will vary, some people have attacks every day, while others have them once a year. Attacks usually last at least a few hours, to sometimes days. Attacks can occur without warning or they may be triggered by factors such as meals rich in carbohydrate, rest after exercise and prolonged immobility. Attacks usually begin in childhood or adolescence, and the frequency of attacks varies with
Myasthenia gravis is a chronic auto-immune neuromuscular disease, which causes weakness in the skeletal muscles. These muscles are responsible for breathing and moving certain parts of the body. The number one sign of myasthenia gravis is muscle weakness that worsens after periods of activity and improves after periods of rest. The eyes are usually affected first with this disease. MG tends to attack muscle groups used for voluntary movement, meaning they are muscles that you have control of. Certain muscles such as those that control facial expression, chewing, talking, and swallowing are often involved with this disease. Because weakness is a common symptom of many other disorders, the diagnosis of myasthenia gravis is often missed or delayed
The most affected tissues are the myelin located in the central nervous system. It is carried by the mother linked to the X chromosome with a mutation in the ABCD1 gene. Mostly shown as a heterogeneous disorder. Symptoms appear between the age of 4 to 8, which cause adrenal insufficiency, difficulty walking, speech and vison problems, emotional instability, hyperactivity, and disruptive behavior. Untreated it progresses to demyelination which leads to vegetable state and
Overall muscle weakness underlies the core features in classic DM1. Distal muscle weakness hampers dexterity of the hands, making grip myotonia a regular feature. However, myotonia also affects other muscles, such as the tongue or facial muscles. This causes difficulty with talking, chewing, and swallowing, and the ‘hatchet’ appearance on account of drooping eyelids and global facial weakness. Additionally, cardiac abnormalities arise – typically involving arrhythmias and conduction blocks, which contribute significantly to the morbidity and mortality of the disease. Central nervous system involvement covers intellectual deficits, Nocturnal apnoeic episodes and daytime sleepiness, , and specific patterns of psychological dysfunction. neuropsychological changes may be associated to alterations in biomarkers, such as tau protein abnormalities. These changes are often detected through neuroimaging and neuropathology. Furthermore, this multi-system disease may give rise to various gastrointestinal tract complications and endocrine abnormalities. Late-onset patients carry a lower number of repeat mutations and often experience symptoms of less