Overview: Muscular dystrophy (MD) is a rare, progressive disease relating to the weakening of skeletal muscles. There are more than 30 types of muscular dystrophy that are further divided into nine categories. Duchenne MD is the most common and acute form of this condition that accounts for 50% of all the cases. Duchenne MD (DMD) is most prevalent in males, between the ages of 3 and 5 (Norwood, FL, et al. 2009). This X-linked disease occurs for 1 in every 3,500 males, which results in confinement to a wheelchair (Blake et al., 2002). Becker MD (BMD) is a less severe type of this condition. A study conducted in the United Kingdom by Bushby, Thambyayah and Gardner-Medwin, the incidence of Becker MD was estimated to be 1 in 18,450 males at birth …show more content…
Therefore, individuals that suffer from DMD will usually die in their early 20s, due to infection, heart and/or respiratory difficulties (Blake et al., 2002). During 1961-1982, data was collected on 473 Dutch Duchenne muscular dystrophy patients. By studying this data, it was shown that the median survival was 19.4 years for patients that have already passed the age of 10 years old. About 23.6% of individuals survived 23.3 years at the minimum. On average, patients died 7.9 years after becoming immobile (Essen et al.) DMD can be detected shortly after birth by examining the amount of serum creatine kinase (CK) activity within the infant. Although, diagnosis is usually made during 3 to 8 years (Jennekens FG, et al. 1991). The symptoms of Muscular Dystrophy typically appear between the ages of two and three. The symptoms include falling frequently, increased clumsiness, walking on the toes, stiffness and weakness in the muscles, mental impairment, learning disabilities and …show more content…
In 1986, researchers found a gene which causes muscular dystrophy when defective. The disease arises when the gene fails to produce a protein called dystrophin. Most of the disease is inherited from the X chromosome from mothers to their sons, even though they themselves are not affected by the disease. Currently, there is no complete or effective therapy for muscular dystrophy, however there are certain treatments that provide relieve in their symptoms and improve quality of life. Surgery would not be ideal for this condition due to the extensive time the patient is spent being immobile (Emery, 2002). Although it may slightly increase their life expectancy and lung functioning, it does not increase the strength of the skeletal muscles (Beytia, Vry and Kirschner, 2012). The recommended treatment option is the use of corticosteroid drugs, which improves muscle functioning and slows down the rate of muscle deterioration. Moreover, physical therapy is also available to help strengthen muscles and maintain their range of movement (Martell 2012). Corticosteroids have various side effects ranging from mild to serious. The side effects of using corticosteroid drugs include causing sodium and fluid to be retained in the body, thus leading to weight gain or swelling of the legs (edema), loss of potassium, muscle weakness, puffiness of the face, increase of facial hair growth, acne, slow wound healing,
Muscular dystrophy is a degenerating disease, in which the skeletal muscles degenerate, lose their strength, and cause increasing disability and deformity. Muscles attached to the bones through tendons are responsible for movement in the human body, however, in muscular dystrophy the muscles become progressively weak. As the muscle fibers
Duchenne muscular dystrophy was first discovered by Guillaume Benjamin Amand Duchenne in the 1860’s, but due to lack of medical knowledge little was known until the 1980’s. It was in 1986 that researchers that were supported by the MDA, muscular dystrophy association, identified the particular X-chromosome that leads to DMD, Duchenne muscular dystrophy. Dystrophin is the protein that is associated with the gene and was named in 1987.The DMD gene is the second largest gene to date, and it produces dystrophin.(Genome, 2013) Lack of the protein Dystrophin in the muscle cells causes them to weaken and become fragile. (MDA, 2015). DMD is an inherited disorder, but there are rare cases where it can spontaneously appear in a child with no previous family history due to a random mutation in moms X-chromosome. DMD is a gender specific disease that only appears in males.
According to the " Muscle Diseases" by Patrick F.Chinnery in the Goldman's Cecil Medicine, 24th Ed 2012, "Duchenne Muscular Dystrophy affects about 1 in 3500 males. About one third of the cases arises from a de novo mutation without a family history."
Listener Relevance: Duchenne Muscular Dystrophy (DMD), is more common than people think and chances are sooner or later you will know of or see somebody affected by this disease.
Duchenne Muscular Dystrophy is a genetic disorder that is passed on through the x chromosomes. Only men are
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
Duchenne Muscular Dystrophy (also referred to as DMD) is a type of muscular dystrophy that weakens the muscles that we need to support our body, body weight, to stand, and to move around. It also can cause you to have scoliosis. Some of the main causes for DMD are genetic disorders, mutations, and DMD has to be passed down throughout everyone in that family for generations. The symptoms you can have if you have DMD are weak muscles, lack of strength, and difficulty walking. DMD is a negative mutation because it affects your muscles horribly bad that you can get a disability of walking and even moving. You need to tell your doctor immediately if you experience any symptoms. If you don't tell your doctor, you may find yourself in a very difficult situation where you can't get up or can't get something you need. When you do talk to your doctor, you will have an advantage of getting the help you need.
muscular dystrophy has many forms and therefore symptoms can vary between the variations. Overall symptoms include the weakening of skeletal muscles and the defect and death muscle tissues. Duchenne muscular dystrophy is the most common and affects young boys such as Eddie.
Duchenne Muscular Dystrophy is a sex-linked disease, which is inherited in a recessive fashion (National Human Genome Research Institute, 2013). Over thirty similar genetic disorders exist (Duchenne Foundation Australia, 2015). All types of muscular dystrophy are considered to be a rare disorder (Duchenne Foundation Australia, 2015). Duchenne Muscular Dystrophy is most common in children and causes muscle weakness and wasting, which commonly begins in the lower limbs (Duchenne Foundation Australia, 2015; National Human Genome Research Institute, 2013). The disease itself is caused by changes to the DMD gene, which is responsible for providing instructions regarding the creation of the dystrophin protein in one’s muscles (Duchenne Foundation Australia, 2015). This protein is responsible for protecting muscles from damage, and without it the cells of a person’s muscles deteriorate and symptoms of Duchenne Muscular Dystrophy are exhibited (Duchenne Foundation Australia, 2015). The disease results from changes in the DMD gene, or other genetic changes in a child (Duchenne Foundation Australia, 2015).
Duchenne Muscular Dystrophy is an X-linked genetic disorder caused by a genetic mutation in the dystrophin gene. The disorder is recessive, therefore males are more at risk for displaying the mutation than women. However, women can be carriers and have mild effects. Duchenne Muscular Dystrophy affects the neuromuscular systems, which can result in deterioration of muscles and eventually death.1 The disorder usually presents itself in early childhood, and can affect the respiratory and cardio systems. The disease can cause spinal problems, respiratory problems, intellectual disability, and cardiac disease which is the main cause of death.4
Duchenne Muscular Dystrophy is a sex-linked disease, which is inherited in a recessive fashion (National Human Genome Research Institute, 2013). Over thirty similar genetic disorders exist (Duchenne Foundation Australia, 2015). All types of muscular dystrophy are considered to be a rare disorder (Duchenne Foundation Australia, 2015). Duchenne Muscular Dystrophy is most common in children and causes muscle weakness and wasting, which commonly begins in the lower limbs (Duchenne Foundation Australia, 2015; National Human Genome Research Institute, 2013). The disease itself is caused by changes to the DMD gene, which is responsible for providing instructions regarding the creation of the dystrophin protein in one’s muscles (Duchenne Foundation Australia, 2015). This protein is responsible for protecting muscles from damage, and without it the cells of a person’s muscles deteriorate and symptoms of Duchenne Muscular Dystrophy are exhibited (Duchenne Foundation Australia, 2015). The disease results from changes in the DMD gene, or other genetic changes in a child (Duchenne Foundation Australia, 2015).
Duchenne muscular dystrophy, classified as a genetic disorder, is marked by progressive muscle degeneration and weakness. It is only one of the nine forms of muscular dystrophy; however, around half of the people diagnosed with muscular dystrophy have Duchenne muscular dystrophy.
Duchenne muscular dystrophy (DMD) is a genetic disease that weakens one’s muscles. DMD is inherited through an X linked pattern due to the gene carrying the DMD mutation is on the X chromosome. The male population are affected by DMD almost exclusive. There is a one in two chance that a male offspring will have DMD if their mother is a carrier of the mutated gene. Every boy inherits an X chromosome from their mother and a Y from their father. If a boy inherits the mutated gene, then they will definitely have the disease because they don’t have a second gene to make up for the faulty one. Female with DMD are very rare in comparison to their counterpart. Girls inherits two X chromosomes, one from each parent. When a girl inherits
Duchenne’s muscular dystrophy is one of the most common forms over childhood muscular dystrophy and primarily affects boys; in total there are 30 different forms of muscular dystrophy 50% being duchenne’s muscular dystrophy (NIH, 2013). This type of muscular dystrophy usually begins to show symptoms around the pre-school age and affects the lower extremities first. By the age of twelve, most boys are in a wheelchair as the trunk muscles being to weaken leading to scoliosis and kyphosis. Eventually the diaphragm begins to weaken and young men with Duchenne’s muscular dystrophy will need assistance with breathing through the use of a ventilator (Naff, C. 2012). According to the 1st Edition of Perspectives on Disease and Disorders Muscular Dystrophy by the age of eighteen most young men would have experienced a cardio myopathy (weakening or the heart muscle) (Naff, C. 2012). Duchenne’s muscular dystrophy (DMD) is a chromosome X-linked and genetically inherited neuromuscular disease. The New England Journal of Medicine reports that Duchenne’s muscular dystrophy affects 1 in 3500 new born baby boys. Duchenne’s
Located on the X chromosome lies a gene whose improper function would take from us what we often sloppily overlook -- our mobility. The freedom to dance with poise, to run with agility, to dress one’s self, to bend over and scoop a dropped pencil off the floor are all motions which are only dreamt of by those with Duchenne Muscular Dystrophy. An X-linked recessive disorder which can be exhibited in both males and females, DMD is most prominent in males, affecting 3500 boys in the world (McKusick). DMD affects muscle -- skeletal, smooth, and cardiac -- by causing degeneration (McKusick). Diagnosis occurs around five years old, and by age ten, a wheelchair is often necessary for the patient. The skeletal