Emery-Dreifuss muscular dystrophy
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.
Cause
Emery-Dreifuss muscular dystrophy is a genetic disease. It can express itself in three forms. This forms are:
X-linked form
Autosomal dominant form
Autosomal recessive form
X-linked form
The X-linked form of Emery-Dreifuss muscular dystrophy is caused by the EMD gene that codes for the ubiquitous protein called Emerin. The EMD gene is found on chromosome Xq28. The gene responsible for the X-linked form was identified in 1994. It is located on chromosome Xq28. The STA gene is 2100 bp in length, consists in six exons and encodes 762 bp mRNA. Its 34 kD protein product of 254 amino acids has been designated 'emerin'. Emerin is a protein that is part of the laminar-association protein family. Th...
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... to Clinical Management”)
At younger age sets in and wastes away muscles in multiple parts of the body making life hard for the affected individuals. This wasting starts at the face and continues to the shoulders where it is more severe. But these are not the only effects Infantile facioscapulohumeral muscular dystrophy has on the individual. Infantile facioscapulohumeral muscular dystrophy also has non-muscular effects. A person diagnosed with this disorder will have vision problems, hearing loss and sometimes seizures.
Treatments for facioscapulohumeral muscular dystrophy
There is no actual treatment or any pharmaceutical cure for facioscapulohumeral muscular dystrophy. The only way to cope with this disorder is to treat the side effects it causes and prevent any other complications that arise from the onset of facioscapulohumeral muscular dystrophy.
There are more than ten inherited disorders within Elhers-Danlos syndrome. Ehlers-Danlos syndrome (EDS) is a “genetic defect in collagen and connective tissue synthesis and structure” (Schwartz, 2013). EDS affects the skin, joints and blood vessels in most types. In EDS the abnormality of the collagen varies dependent on the type of EDS. Six of the main types of Ehlers-Danlos syndrome include; types I and II EDS which are called the classic type, type III hypermobile EDS, type IV vascular EDS, type VI kyphoscoliosis EDS, type VII A and B arthrochalasia EDS, and type VII C dermatosparaxis EDS (Willacy, 2011).
Ehlers-Danlos sydrome (EDS) is a rare inherited group of connective tissue disorders characterized by defects of the major structural protein in the body (collagen).
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.
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).
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
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.
Because the cause of fibromyalgia is not know, there is no prevention for the disorder. There are only ways of coping with it once it is discovered.
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.
Although there is no known cure for this condition despite the advent of science and technology, the good thing is that there are numerous options to offer relief for fibromyalgia patients. You must have heard about being dependent to certain types of medicines or those people who no longer respond to low dose analgesia. In this case, most patients look for natural remedies to avoid complications later on. Even top-notch medical specialists believe that the treatment and management for fibromyalgia should be a balanced and holistic approach that comes with complementary medicine, appropriate exercise and therapy.
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).
The first historical account of muscular dystrophy was identified by Sir Charles Bell in 1830. He wrote about a disease that caused weakness in boys that progressively got worse. In 1836 another scientist whose name is unknown reported about two brothers who developed muscle damage, generalized weakness. Also damaged muscle was replaced with fat and connective tissue. At the time the symptoms were thought to point to tuberculosis. During the 1850s reports of boys with progressive muscle weakness became more and more common. There were also reports of these boys losing the ability to walk and dying at an early age. In the next decade French neurologist Guillaume Duchenne gave and in depth account of 13 boys who had the most common ...
Hypertrophic cardiomyopathy is an inherited disease that affects the cardiac muscle of the heart, causing the walls of the heart to thicken and become stiff. [1] On a cellular level, the sarcomere increase in size. As a result, the cardiac muscles become abnormally thick, making it difficult for the cells to contract and the heart to pump. A genetic mutation causes the myocytes to form chaotic intersecting bundles. A pathognomonic abnormality called myocardial fiber disarray. [2,12] How the hypertrophy is distributed throughout the heart is varied. Though, in most cases, the left ventricle is always affected. [3] The heart muscle can thicken in four different patterns. The most common being asymmetrical septal hypertrophy without obstruction. Here the intraventricular septum becomes thick, but the mitral valve is not affected. Asymmetrical septal hypertrophy with obstruction causes the mitral valve to touch the septal wall during contraction. (Left ventricle outflow tract obstruction.) The obstruction of the mitral valve allows for blood to slowly flow from the left ventricle back into the left atrium (Mitral regurgitation). Symmetrical hypertrophy is the thickening of the entire left ven...
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's muscular dystrophy, also known as psuedohypertrophic muscular dystrophy, is a typical sex-linked disorder in which the muscles degenerate throughout a person's life. It literally means "faulty nutrition of the muscles. " Muscular Dystrophy has no cure, and this particular type of muscular dystrophy affects only males. One in 3,500 baby boys are born with this disorder and while survival is rare beyond the early 30s, death is usually caused by a respiratory disease.