Muscular Dystrophy
Muscular Dystrophy is the weakening and deterioration of the muscles caused by the absence, faulty, or insufficient amount of dystrophin, a protein involved in maintaining the strength of the muscle, producing symptoms like, the inability to walk, shortening of muscles or tendons around joints, breathing problems, scoliosis (curved spine) heart complications and swallowing difficulties. (Mayo Clinic Staff, 2015) Muscular Dystrophy affects all aspects of the patients’ lives and must be handled with a holistic approach. Muscle weakness can limit the mobility of joints causing the arms and legs to draw inward due to the deterioration of the muscle, becoming fixed in a flexed position. The most common types of MD are Duchenne
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DMD and Becker is known as a x-linked disease which means it’s a genetic deformity that is passed from mother to son. The most common symptoms may include; “ frequent falls, difficulty getting up form a lying or sitting position, trouble running and jumping, waddling gate, walking on toes, abnormally large calf muscles, muscle pain and weakness, and intellectual impairment.” (Mayo Clinic Staff, 2015) According to the National Institute of Neurological Disorders and Stroke article called Muscular Dystrophy “boys with DMD show symptoms between 3 and 5 years of age and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe.” (Office of Communications and Public Liasion; The National Institute of Neurological Disorders and Stroke; National Institute of Health, 2015) Becker is a milder form of Muscular Dystrophy progressing at a slower pace than DMD but it carries many of the same symptoms. Becker generally begins in teens but may not occur until early adulthood. Unlike DMD which affects the entire muscular system, in Becker the weakness may be limited to the quadriceps (upper thigh …show more content…
Before tests are ran the doctor will start with acquiring the medical history and physical exam of the patient. If the doctor suspects MD being the cause of the patient’s symptoms, they will run an assortment of tests that may include: Enzyme testing, which test the blood for enzymes called creatine kinase (CK) these enzymes are only present in the blood when muscle damage has occurred. High levels of CK may suggest a muscle disease; Electromyography is used by inserting an electrode needle into the effected muscle. Electrical activity is then measured as the patient slowly flexes and extends the muscle. Changes in the pattern of electrical activity can confirm muscle disease; Genetic Testing is used to test for mutations in the blood, this type of testing is used primary for identification of the type of MD affecting the patient; Muscle Biopsy is another test doctors use to figure out the type of MD a patient has, this is done by surgically removing a tiny piece of the effected muscle and running tests; Heart and Lung monitoring tests observes the changes MD has on the heart and lungs during the later stages. This test is also used to assist doctors in diagnosis of CMD type 1 in
According to “Heart Disease and Marfan Syndrome” (n.d.), if the disease is suspected, the doctor will perform a physical exam of the eyes, heart and blood vessels, and muscle and skeletal system. After, a history of symptoms and information about family members will be obtained to determine if you have it. A chest x-ray, an electrocardiogram, and an echocardiogram can also be used to evaluate the heart and blood vessels to detect heart rhythm problems. A transesophageal echocardiogram may also be used, along with an MRI, CT scan, or a slit lamp eye exam to check for dislocated lenses. The various symptoms of Marfan syndrome allow doctors to diagnose the condition and provide treatments that can help the
For the lab test part, in this case we can do a muscle biopsy on him. A muscle biopsy is a procedure that removes a small sample of tissue for testing in a laboratory. The test can identify the disease is caused by nerve or by the muscle atrophy.
P3 – Describe the investigations that are carried out to enable the diagnosis of these physiological disorders
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.
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.
Muscular Dystrophies are genetic disorders that are distinguished by degenerative muscles and weakness in the muscles. Duchenne muscular dystrophy is a dominant sex-linked disorder that mostly affects males, and it affects one in 3,500 males (Furlong, 2015). Males inherit Duchenne Muscular Dystrophy when they get an X chromosome (they inherit the chromosome from their mother) with a mutated dystrophin gene. Since males only have one X-chromosome (males have XY, females have XX), they are more vulnerable. If a female inherits only
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)
Duchenne muscular dystrophy is a genetic disorder of muscular weakness, typically in boys. DMD is a form of muscular dystrophy, and is caused by a defective gene for dystrophin. This could be caused genetically or to people without a known family history. DMD occurs in about 1 out of every 3,600 male infants.
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.
For example if the liver is damaged or diseased then some of its enzymes will leak into the bloodstream. A blood test will check for this and give the doctor an idea as to what has happened.
The neurological disorder is generally diagnosed in children aged between six and twelve years, the condition affecting boys three times more often than girls (Hamilton, 2002; Gardner, 2008). Despite the fact that DCD affects roughly 6.4 percent of children, few individuals are familiar with the condition (Hamilton, 2002). In fact, a study by Kirby, Davies, & Bryant (2005) revealed that only 54.3% of teachers and 26.7% of general practitioners could accurately define DCD (p. 124). In response, the condition will be briefly outlined here.
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.
According to the MediLexicon Medical Dictionary, muscular dystrophy is defined as a general term for a number of hereditary, progressive degenerative disorders affecting skeletal muscles, and often other organ systems (Staff). Basically what that means is that muscular dystrophy is a genetic disorder that is passed down that affects the skeletal muscles and other organs by slowly breaking them down. Since it is genetic, it is not contagious and you cannot catch it from someone who has it. MD weakens muscles over time, so children, teens, and adults who have the disease can gradually lose the ability to do the things most people take for granted, like walking or sitting up. Someone with MD might start having muscle problems as a baby or their symptoms might start later. Some people even develop MD as adults (Clark, 2010).
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.