Genetic Disorders- Duchenne Muscular Dystrophy (DMD)
Description of disorder, symptoms and chance of survival
Duchenne muscular dystrophy is a genetic disorder that causes 1 out of 3500 males’ voluntary muscles that control their body’s movement to progressively weaken and waste due to a lack of dystrophin. Dystrophyn is an important muscle protein which is produced in a gene in the X chromosome. Hence, it is a sex linked disorder that affects only boys. The boy, if he inherits the disorder, looses muscle throughout his life. Symptoms include; tightening of muscles, difficulty in walking/running and calves may be large and firm. If inherited, the boy will not survive as the condition will make him become disabled due to his voluntary muscles progressively weakening and wasting.
Example of pedigree diagram for inheritance of disorder and how diagram provides clues as to how the condition is inherited
The previous diagram shows that DMD is due to a recessive, sex (X) linked gene inherited by the grandmother because if the grandparents (1 and 2) reproduce their alleles must look like the diagram below and 25% of their children should have the condition. It is inherited by the grandmother because if it was inherited by the grandfather the punnet square would not have a male with DMD.
When the grandparents reproduced the condition could not be inherited by the male (1) because due to the previous punnet square, the female (2) is the carrier while the male only passes the XY gene over to his female children …..
…which, if 3 and 4 reproduce they have a 25% chance
of having a boy with DMD as show to the right.
In the pedigree diagram I have analysed each person who has children with the disorder to determine that their mother is the carrier (as it is a sex [X carried] linked disorder) hence I have determine each person’s genotype below:
1. XY 4. 7. XX 10. 13. XY
2. 5. XY 8. XX 11. 14. XX
3. XY 6. 9. 12. XY
Explanation of how predictions of the condition occurring in future generations can be made using a diagram (Punnet Square) including explanation of Alleles
All humans inherit sex chromosomes from their parents which determine their sex. Males have XY chromosomes in their gametes while females have XX chromosomes in their gametes.
The condition, DMD , occurs in the X chromosome on a mutated gene that produces dystrophin. It is not on the Y chromosome because it does not produce dystrophin.
Genetic Family History Assessment All nurses, no matter where they practice, need to have proper training in genomics and genetics to provide the best information to clients regarding recognition, prevention, and/or treatment of diseases (Thompson & Brooks, 2011). Genetic family history can help clients discover the unique patterns of health and illness within their family. In this paper, I will complete a Genetic/Genomic Nursing Assessment using the information found in Kaakinen, Coehlo, Steele, Tabacco, & Hanson’s text (2015) in Box 7-7 (p. 198). I will identify three generations of a family, analyze the genetic health risks, and consider nursing strategies for this family. The woman featured in my genetic assessment will be referred to as LG.
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).
Ivy is the third generation in her family to be affected by achondroplasia. Her grandfather, her father, and her brother also have it. Achondroplasia is inherited as an autosomal dominant trait whereby only a single copy of the abnormal gene is required to cause achondroplasia. Nobody with the mutated gene can escape having achondroplasia. Many individuals with achondroplasia have normal parents, though. In this case, the genetic disorder would be caused by a de novo gene mutation. De novo gene mutations are associated with advanced paternal age, often defined as over age 35 years. If an individual with achondroplasia produce offspring with a normal individual, the chances of the offspring inheriting the mutant allele achondroplasia is 50%. If both of the parents have achondroplasia, the chances that their offspring will be of normal stature a...
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 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).
There is much debate as to whether a sex offender should be released into the public, this debate stems from the idea that a sex offender cannot be treated and that they are a danger to the public as they are ‘purely evil’ (Burke, 2005), however there is much evidence that sex offenders can be treated and re-introduced into society as a productive member. Sex offender is a general term used to refer to any person who has been convicted of crimes involving sex, from rape and molestation to exhibitionism and pornography distribution. There are many theories which try to explain why people are sexual offenders, these theories along with treatments for sex offenders will be looked at to help explain why people sexually offend and to help evaluate whether sex offenders should be released.
Sex offender legislation has been encouraged and written to protect the community and the people at large against recidivism and or to help with the reintegration of those released from prison. Nevertheless, a big question has occurred as to if the tough laws created help the community especially to prevent recidivism or make the situation even worse than it already is. Sex offenders are categorized into three levels for example in the case of the state of Massachusetts; in level one the person is not considered dangerous, and chances of him repeating a sexual offense are low thus his details are not made available to the public (Robbers, 2009). In level two chances of reoccurrence are average thus public have access to this level offenders through local police departments in level three risk of reoffense is high, and a substantial public safety interest is served to protect the public from such individuals.
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)
Human Rights Watch, a world-class independent organization, state on their site: “Human Rights Watch is dedicated to protecting the human rights of people around the world” (Human Rights Watch). In 2007, they published No Easy Answer, which deals with how sex offenders are affected by being registered as sex offenders. They claim that it is injustice to “label” a person for their entire life for a bad decision they made as a child. I could not agree more, but what the good people at Humans Rights Watch are forgetting is that those are not the only people on the sex offenders’ registry; there are those with unspeakable crimes. Individuals like Dr. Earl Bradley, a pediatrician who sexually abused more than one hundred victims whose ages ranged between six months and thirteen years! (The Week Magazine).
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.
Sex offenders have been a serious problem for our legal system at all levels, not to mention those who have been their victims. There are 43,000 inmates in prison for sexual offenses while each year in this country over 510,000 children are sexually assaulted(Oakes 99). The latter statistic, in its context, does not convey the severity of the situation. Each year 510,000 children have their childhood's destroyed, possibly on more than one occasion, and are faced with dealing with the assault for the rest of their lives. Sadly, many of those assaults are perpetrated by people who have already been through the correctional system only to victimize again. Sex offenders, as a class of criminals, are nine times more likely to repeat their crimes(Oakes 99). This presents a
Gender is determined by the sex chromosomes, XX produces a female, and XY produces a male. Males are produced by the action of the SRY gene on the Y chromosome, which contains the code necessary to cause the indifferent gonads to develop as testes (1). In turn the testes secrete two kinds of hormones, the anti-Mullerian hormone and testosterone, which instruct the body to develop in a masculine fashion (1). The presence of androgens during the development of the embryo results in a male while their absence results by default in a female. Hence the dictum "Nature's impulse is to create a female" (1). The genetic sex (whether the individual is XX or XY) determines the gonadal sex (whether there are ovaries or testis), which through hormonal secretions determines the phenotypic sex. Sexual differentiation is not drive...
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Sex and gender are terms that are mixed up from day to day and seen as similarities rather than differences. Sex is what distinguishes people from being either male or female. It is the natural or biological variation between males and females (Browne, 1998). Some of these variations are genital, body hair, and internal and external organs. It is the make-up of chromosomes, men have one X and one Y chromosome and women have two X chromosomes, which are responsible for primary characteristics (Fulcher and Scott, 2003).