Description of the Disorder Duchenne muscular dystrophy is a genetic disorder that is characterized by progressive muscle degeneration and weakness. It is caused by a mutation of the DMD gene that can be inherited through transmission of an X-linked recessive gene. DMD codes for the muscle protein, dystrophin. As a result, people who are affected with this disorder are not able to make this protein in their muscles, causing them to become weak and not function properly (NHGRI, 2014). This disorder moves quickly throughout the body and rapidly gets worse. Of the nine different muscular disorders, Duchenne muscular dystrophy is the most prevalent form found in people today (MDA, 2014). Epidemiology Duchenne muscular dystrophy affects approximately 1 in every 3,500 live male births; that is nearly 20,000 new cases annually. This disorder primarily affects young boys because of the disorder’s location on the “X” chromosome. In very rare cases it affects young girls. A majority of the time, it only causes them to become carriers of the disorder and they never show any symptoms. Duchenne muscular dystrophy is not limited to just one race or culture; it affects all races and cultures. Typically, Duchenne muscular dystrophy can be passed down from an affected parent to their child; although, that is not necessarily true in every case. Approximately 35% of children affected with the disorder do not receive it from their parents. This is possible because the disorder can occur in any child when there is mutation on the “X” chromosome where DMD is located. This means that anybody can be affected by this disorder even if it does not run in their family (PPMD, 2014). Modes of Inheritance A majority of people diagnosed with Duchenne muscular ... ... middle of paper ... ...lar dystrophy: MedlinePlus Medical Encyclopedia. (n.d.). Retrieved March 18, 2014, from http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm. "Duchenne Muscular Dystrophy." Muscular Dystrophy Association. Web. 16 Mar. 2014. . Learning About Duchenne Muscular Dystrophy. (n.d.). Retrieved March 16, 2014, from http://www.genome.gov/19518854. Patient.co.uk - Trusted medical information and support. (n.d.). Retrieved March 18, 2014, from http://www.patient.co.uk/doctor/duchenne-muscular-dystrophy. Patient.co.uk - Trusted medical information and support. (n.d.). Retrieved March 16, 2014, from http://www.patient.co.uk/health/duchenne-muscular-dystrophy-leaflet Signs of Duchenne. (n.d.). Retrieved March 18, 2014, from. http://www.parentprojectmd.org/site/PageServer?pagename=Understand_about_signs.
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).
Genetic disorders can be caused by many of the 46 chromosomes in human cells. This specific disorder is linked to a mutation in the long arm of the X, or 23rd chromosome. The mutation is recessive, meaning a normal X chromosome can hide it. Females have two X chromosomes allowing them to hide the mutated recessive one, making them a carrier of the gene, while males only have one X chromosome, meaning that they are unable to hide the mutation and they become effected by the disease. Therefore if a male carries the gene, he is affected because he has no way of dominating the recessive gene, but if a female carries it, she is only a carrier and has a 50/50 chance of passing it on to her baby. This may seem like a high probability however, only one in every fifty thousand male births will have this immunodeficiency disease.
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.
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
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).
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.
One disease that one can get in the muscular system is Cerebral palsy. Cerebral palsy is known as one of the most common congenital disorders. It impacts the balance and motor functions along with the posture. When there is brain damage to a child at a young age it being before it was born or after, it causes a loss of muscle tone. When they lose muscle tone it makes it difficult for the person to go on with their everyday lives and perform the normal tasks needed each day.
According to Talbot et al. (2010), Motor Neurone Disease, which is also known as MND, is when progressive degeneration occurs in the motor neurones of the brain and the spinal cord. Motor neurones are nerve cells that control the muscles in the body. They also stated that as the progressive degeneration occurs of these muscles, messages to the muscles stop working which leads to the muscles then becoming weak and they begin to waste. The wasting of muscle usually begins in the arms and legs of the person who is suffering from Motor Neurone Disease. Irish Motor Neurone Disease Association (2014) stated that some patients suffering from Motor Neurone Disease can develop a weakness or wasting of the muscles in their face and throat. If this does occur, the patient with Motor Neurone Disease can have problems with swallowing, talking, chewing, walking, drinking and even breathing.
...hromosome and the disease/disorder is passed down in an X linked recessive fashion. Symptoms include muscle weakening and wasting, and pain in the lower body. Mostly only the lower body’s muscles are affected causing the child to have to be confined to a wheelchair. The best way to diagnose Duchenne Muscular Dystrophy is by doing a muscle biopsy to test for abnormal dystrophin levels. There is no treatment for the disease/disorder itself, but only for the symptoms of it. The average age of death in males with Duchenne Muscular Dystrophy is the late thirty’s. Most deaths are caused by breathing complications or heart problems like cardiomyopathy. Duchenne Muscular Dystrophy on average affects one in thirty five hundred male births worldwide. Overall, Duchenne Muscular Dystrophy is very hard to live with and affects many boys around the world.
Every male inherits an X chromosome from their mother and a Y chromosome from his father which makes him male. Females get two X chromosomes from each parent. With those two X chromosomes the female gets it helps her fight the one that does not have dystrophin protect her muscles. If the mother has a flawed gene there is a 50% chance that the son will have DMD. This makes the mother ‘the carrier’. The absence of dystrophin in the cells causes weakness to the muscles. Symptoms will show about at the age of 2 years-old. As they get older you will notice that it is affecting the body totally different. They have a sway back, their arms and legs look out of place. The male’s body that is just so badly affected has wheel chairs at a young age others have tiny crutches to help them elevate their body, helping with balance. It is very painful itself to your body.You can live up to the age of 25 years-old for the reason being that the disease is just damaging your muscles. During the process of aging with this condition there are ways to help you with the muscles. For example, they give you an opportunity to have therapy. Going to therapy helps them in some ways to build up a little more muscles even though the dystrophin is too strong it will still weaken the muscles.Lack of dystrophinweakening the muscle layer in the heart resulting in a condition called cardiomyopathy. As it affects the heart as well that puts more damaged to the males body. This
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 cures, and this particular type of muscular dystrophy affects only males. One in 3,500 baby boys are born with this disorder and survival is rare beyond the early 30s, death is usually caused by a respiratory disease. (ygyh.org)