Muscular Dystrophy (MD) is a disease that weakens the musculoskeletal system and affects the ability to move. MD also affects groups of muscles. In the 1860’s it was described that boys were progressively growing weaker, losing the ability to move and died at an early age. A decade after the first description a French, neurologist named Guillaume Duchenne gave account for thirteen boys with the most common and severe forms of Muscular Dystrophy. MD is being caused by a mutation of a gene within the X chromosome, and affects predominately males. Most MD are multisystem disorders and can affect other body systems that include the heart, gastrointestinal, nervous system, endocrine glands, eyes and brain. There are over 50,000 people in the United States that are diagnosed or living with muscular dystrophy. The following are the nine major forms of muscular dystrophy: • Myotonic: muscles have difficulty relaxing. • Duchenne: most common form of the disease. This for is found to be genetic. This is form is passed on through the mother who is a carrier or family has a history of the disease. Symptoms start about the ages of 2 to 6 and by the time the child is about the ages of 10 to 12 the child would be in a wheel chair. • Becker: this form affects boys. It starts at a later stage in life and can be less severe. Patients have been known to have problems with breathing, heart, muscles, and joints. Also been known to live long active lives without a wheelchair. • Limb-girdle: affects boys and girls equally. This form progresses slowly and affects the shoulders, upper arm, hips and thighs. • Facioscapulohumeral: affects boys and girls. It begins in their early teens or early adulthood. This form affects the face, shoulders, and legs.... ... middle of paper ... ...rieved 9 April 2007. 3. Emery AE (2002). "The muscular dystrophies". Lancet 359 (9307): 687–695. 4. k on Implementation of the MD CARE Act, as submitted by Department of Health and Human Service's Motlagh B, MacDonald JR, Tarnoplosky MA. Nutritional inadequacy in adults with muscular dystrophy. Muscle Nerve. 2005;31(6):713-8. 5. R.M. Lehman & G.L. McCormack, 2001. Neurogenic and Myopathic Dysfunction pp. 802-803. In L. Pedretti and M Early Occupational Therapy Skills for Physical Dysfunction 5th ED St Louis MO: Mosby 6. Sarnat HB Muscular dystrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF,eds.Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap601 7. Bushby RF, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul a, et.al Diagnosis and management of Duchenne Muscular Dystrophy. Lancet Neurol. 2010;9:77-93.(PubMed:19945913)
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.
Three different tests are used to determine if a male has Duchenne's muscular dystrophy. A CPK (also known as a CK) assay will detect muscle damage, but not the source. CPK is an abbreviation for Creatine Kinase Assay, which is essentially a blood test. Muscle biopsies are also common, a needle is inserted...
Muscular Dystrophy is a diverse group of disease which involves the weakness and wasting of muscles and leads to many other problems in physiological system. It is because of mutation in gene related to contraction and relaxation of muscles. Although recently no perfect treatment option is available for it but in nearby future cure of this disease will be available due to advanced technology and methods like gene therapy and stem cell technology.
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.
Treatment for Spinal Muscular Atrophy is currently unavailable to correct this condition. But a person can take other steps to try to help comfort the situation they are in but there is no stopping it. Physical therapy is important because it can help work the muscle to prevent contraction of them. Breathing machines are an important to have because a lot of trouble falls under the breathing when the weakness of these muscles occurs.
The three tests that are customarily used to test Duchenne Muscular Dystrophy, and the milder form of the disease, Becker Muscle Dystrophy, are CPK Assay, DNA testing, and muscle biopsy. If your family has a history of either Duchenne Muscle Dystrophy or Becker Muscle Dystrophy (or both), you can have prenatal testing to see if the child will be born with the disease and develop symptoms. A CPK assay can reveal degeneration of the muscles, while a muscle biopsy and/or DNA biopsy will detect the source of the degenerating muscles. Most males with Duchenne Muscular Dystrophy have lost an exon from their mutated dystrophin gene and a DNA test can identify a male’s gene (Micklos, 2002). If the female is carrying the disease DNA testing and a CPK can reveal that information as well. Other young male family members are at risk of inheriting Duchenne Muscular Dystrophy, and a DNA test would detect the mutated gene before he may show
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).
Duchenne Muscular Dystrophy is caused by the mutation of the necessary muscle protein dystrophin that occurs on the X chromosome, and due to the way the disease is inherited it usually affects males. Males have only one copy of the X chromosome from their mother and one copy of the Y chromosome from their father. If their X chromosome has a DMD gene mutation, they will have Duchenne muscular dystrophy. According to the US National Library of Medicine (www.nlm.nih.gov) the sons of females who are carriers of the disease (women with the defective gene, but have no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50% chance of being carriers, but very rarely
Muscular dystrophy (MD) is a genetic disorder that weakens the muscles that help the body move. People with MD have incorrect or missing information in their genes, which prevents them from making the proteins vital for healthy muscles. MD is genetic, so people are born with the problem — it is not contagious and you can't catch it from someone who has it. MD weakens muscles, so those with the disease can gradually lose the ability to do most physical activities e.g. walking. Someone with MD may start having muscle problems from birth or later in life. There are over 30 types of MD with various symptoms but this particular piece will explore Duchenne Muscular Dystrophy (DMD).
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)
This disease usually happens in childhood. Muscle weakness can start as early as age 3, first affecting the muscles of the hips, pelvic area, thighs and shoulders, and later the skeletal muscles in the arms, legs, and trunk. Other symptoms include frequent falls, trouble getting up or running, big calves, or learning disabilities. DMD can also affect your heart, lungs, and other parts of the body. There is no cure, but physical therapy
Duchenne muscular dystrophy is triggered by the deficiency of the protein dystrophin that support muscle cells and keeps them whole. The shortage of dystrophin in cells causes continuing muscle weakness making the
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.
A muscular dystrophy is a group of diseases that cause progressive weakness and degeneration of skeletal muscles used during voluntary movement. This disease will occur when one just one of the thousands of genes that aid in programming proteins critical to muscle integrity is mutated. There are some types of muscular dystrophies that affect the heart, gastrointestinal system, endocrine system, spine, eyes, brain, and other organs. This disease may cause a serious respiratory and cardiac disease to occur, but most people just eventually lose the ability to walk. This disease is in fact inherited. The mutation comes from the mother of the child that has this disease. It is inherited when a mother is a carrier of the disease. Then it is passed along to the baby when the mom gives
Duchenne Muscular Dystrophy, commonly referred to as DMD, is a life threatening disease. There are many different forms of muscular dystrophy, Duchenne being one more serious. DMD begins to show at a young age. This particular form of muscular dystrophy is mostly found in males. Duchenne is carried by the mother on the X chromosome but often, the event of having this disease is just a “fluke.” Duchenne Muscular Dystrophy is a deadly and unfortunate disease but new research that is being done may be the cure many are looking for.