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
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).
Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Amyotrophic Lateral Sclerosis is better known as ALS or Lou Gehrig’s disease. Amyotrophic Lateral Sclerosis was not brought to International or national attention until Famous New York Yankees baseball player, Lou Gehrig, was diagnosed with it in 1939. Jon Stone, the writer and creator of Sesame Street, was also diagnosed with Amyotrophic Lateral Sclerosis. Amyotrophic Lateral Sclerosis is very deadly and it physically handicaps a person as it progresses. There are two types of Amyotrophic Lateral Sclerosis, Sporadic and Familial. Sporadic is the most common cause in some cases and Familial is inherited, which is rare. Amyotrophic Lateral Sclerosis is one of the most aggressive muscular atrophy disorders, it has many signs and symptoms, and it can be treated but cannot be cured.
Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy characterized by early onset contractures of the elbows, achilles tendons and post-cervical muscles with progressive muscle wasting and weakness It is also associated with heart complications like cardiomyopathy and arrhythmia which in both cases can lead to death. Cardiomyopathy is a heart disease which affects the muscles of the heart. In cardiomyopathy is muscles get rigid, enlarged or thick. They also sometimes changed by scar tissues. On the other hand arrhythmia is a disorder with the rhythm or rate of heartbeat. The heart can beat fast, which is called tachycardia or it could be beating too slow, which is called bradycardia. Emery-Dreifuss muscular dystrophy is characterized by early onset of contractures and humeroperoneal distribution. Humeroperoneal refers to effects on the humerus and fibula. The genes known to be responsible for EDMD encode proteins associated with the nuclear envelope: the emerin and the lamins A and C.
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).
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.
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.)
Duchenne muscular dystrophy, also known as DMD, the most common type of muscular dystrophy, is caused by the incorrect information with the gene that generates a protein called dystrophin. The function of this protein is to help muscle cells keep their strength and shape. Without the presence of this protein, muscles begin to deteriorate and a person’s health becomes weaker. Duchenne muscular dystrophy is one of the types that affect boys, and symptoms of the disease begin to show between the ages of two and six. Most children with duchenne muscular dystrophy will require transportation by wheelchair by the age of ten or twelve. Patients with duchenne muscular dystrophy may experience heart c...
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).
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
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)
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
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.
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
Anyone can develop myopathy. Women get myopathies about twice as often as men. These diseases affect all ethnic groups. (Inflammatory myopathies, 2013) Out of about 100,000 people, 5-10 suffer from a type of myopathy. With most who suffer from myopathies, weakness occurs in the muscles of the shoulders, arms, legs, and the pelvis. In those cases of advancement of the disease, the muscles of the hands and feet may also be weakened. Other signs would be aching of the body, cramping, stiffness, tenderness like the tingling one may experience from muscles falling asleep, and a sense of tightness. Some normal activities would be difficult to do for someone suffering from myopathy like walking up and down stairs or even around the house.
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