May you please give a brief account on the Duchenne and Becker Dystrophics, I dun know what is it\nIt is a genetic problem \nbut what gene, how this gene inherit pattern, \nsignificance, pathology, test for it, treatment \neverything are welcomed
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Duchenne’s Muscular Dystrophy:\n\nGENETICS:\n\nX-linked recessive disease\n\nDMD gene encodes for a large protein DYSTROPHIN , which is required by muscle cells for structural support; it is thought to strengthen muscle cells by anchoring elements of internal cytoskeleton to the surface membrane. Without it, cell membrane becomes permeable, so that extra cellular components  enter the cell, increasing the internal pressure until the muscle cells explode and dies.\n\nType of Mutation found in DMD:\n\n* DMD with +ve family history =  Frame shift mutation (deletion or insertion)\n* DMD with -ve family history  =  Point Mutation\n* DMD in females =  X-chromosome & autosome translocation\n\nBeker’s Muscular Dystrophy :\n\nSame as DMD but  In-frame deletion or insertion producing altered protein dystrophin.\nIt’s a milder form of DMD\n----------------------------------------------------\nSYMPTOMS:\n\nEarly signs of Duchenne, which usually occur between the ages of 2 and 6, include frequent falling, difficulty getting up from a sitting or lying position, and a waddling gait. Another hallmark is the apparent enlargement of the calf and sometimes other muscles, which is really due to an accumulation of fat and connective tissue in the muscle. A blood sample shows a very high level of creatine kinase (CK), an enzyme that leaks out of damaged muscle.\nduchenne boys\n\nIn Duchenne muscular dystrophy, posture changes as the child grows.\n\nProgression varies somewhat from child to child. The use of orthopedic devices and physical therapy can prolong the ability to walk. Frequently, however, a wheelchair will be needed by age 12.\n\nMild mental retardation has been noted in some (by no means all) boys with Duchenne dystrophy.\n\nBreathing becomes affected during the later stages of Duchenne, leading to respiratory infections. These are often successfully treated with antibiotics and respiratory therapy. Severe respiratory and heart problems mark the disease's final stages, usually in the boy's teens or early 20s.\n------------------------------------------------------\nDIAGNOSIS:\n\n# Creatine Kinase Test \n# Electromyography and Nerve Conduction Velocities \n# Muscle Biopsies \n-------------------------------------------------------\nT/T:\n\nPrednisone \nDeflazacort \nAlbuterol \nCreatine\nAnabolic Steroids \nCalcium blockers  Gentamycin
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Your question requires more knowledge of science and genetics than I have.  However, since you haven't received much help with it I thought I would give you a couple of sites.  Try these - they may be of some help to you.  Sorry I couldn't help more.
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Werner syndrome is a premature aging disease that begins in adolescence or early adulthood and results in the appearance of old age by 30-40 years of age. Its physical characteristics may include short stature (common from childhood on) and other features usually developing during adulthood: wrinkled skin, baldness, cataracts, muscular atrophy and a tendency to diabetes mellitus, among others.\n\nThe disorder is inherited and transmitted as an autosomal recessive trait. Cells from WS patients have a shorter lifespan in culture than do normal cells. The gene for Werner disease (WRN) was mapped to chromosome 8 and cloned: by comparing its sequence to existing sequences in GenBank, it is a predicted helicase belonging to the RecQ family. However, it has yet to be shown to have real helicase activity (as a DNA unwinder important for DNA replication). The molecular role of WRN in Werner syndrome therefore remains to be proven, as does any role it might have in the aging process in general.\n\nA yeast protein similar to the human WRN protein, called SGS1, has been found. Mutations in SGS1 cause yeast to have a shorter lifespan than yeast cells without the mutation, and shown other signs typical of aging in yeast, such as an enlarged and fragmented nucleolus. Using yeast as a model for human aging in general, may give insight into the mechanisms of Werner syndrome and related diseases\n    Werner syndrome is named after Otto Werner, a German student who described the syndrome as part of his doctoral thesis in 1904\nC. W. Otto Werner ( February 1, 1879 - 1936 ) was a German physician, after whom Werner syndrome (Werner's syndrome), a form of premature aging (progeria adultoram) was named. As a medical student in 1903, Werner observed the syndrome in four siblings near the age of 30. He documented his observations in his Inaugural Dissertation in 1904.\n\nWerner was born in Flensburg, the son of a provincial councillor. He attended school in Kiel and qualified to practice medicine at Christian-Albrechts-Universität zu Kiel in 1904. He served as an army doctor with the Infantry Regiment at Holstein and, in 1906, in Kiel, he married the daughter of a physician. He then began a rural medical practice based in Eddelak, a small German town near the Danish border. There he remained for the rest of his life, except for his service as a medical officer with the German Navy during World War I.
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Alterations to DNA are called mutations, and they can result in the formation of new characteristics that are heritable, or capable of being inherited.\n\nEvery cell in the body of every living organism contains DNA in threadlike structures called chromosomes. Stretches of DNA that hold coded instructions for the manufacture of specific proteins are known as genes, of which the human race has approximately 40,000 varieties. If the DNA of a particular gene is altered, that gene may become defective, and the protein for which it codes also may be missing or defective. Just one missing or abnormal protein can have an enormous effect on the entire body: albinism, for instance, is the result of one missing protein.\n\nMutations also can be errors in all or part of a chromosome. Humans normally have 23 pairs of chromosomes, and an extra chromosome can have a tremendous negative impact. For example, there should be two of chromosome 21, as with all other chromosomes, but if there are three, the result is Down syndrome. People with Down syndrome have a unique physical appearance and are developmentally disabled. Nor is an extra chromosome the only chromosomal abnormality that causes problems: if chromosomes 9 and 22 exchange materials, a phenomenon known as translocation, the result can be a certain type of leukemia. Down syndrome also results from translocation.\n\nGerminal mutations are those that occur in the egg or sperm cells and therefore can be passed on to the organism's offspring. Somatic mutations are those that happen in cells other than the sex cells, and they cannot be transmitted to the next generation. This is an important distinction to keep in mind in terms of both the causes and the effects of mutation. If only the somatic cells of the organism are affected, the mutation will not appear in the next generation; on the other hand, if a germinal mutation is involved, what was once an abnormality may become so common in certain populations that it emerges as the norm.\nEvery single human trait—blue eyes, red hair, cystic fibrosis, a second toe longer than the big toe, and so on—is the result of some genetic mutation somewhere back down the line. Traits that are shared by all people must have arisen long ago, while other traits occur only in certain populations of people. Traits may be as innocuous as eye color or hair texture or as grave as a shared tendency toward a particular disease. Cystic fibrosis, for instance, is most common in people of northern European descent, while sickle cell anemia (see Amino Acids) occurs frequently in those of African and Mediterranean ancestry. A fatal disorder known as Tay-Sachs is found primarily in Jewish people whose ancestors came from Eastern Europe. In many cases, the particular mutation, while harmful in one regard, proved to be a useful one for that population. We know, for example, that while two copies of the mutant sickle cell anemia gene cause illness, one copy confers resistance to malaria—a very useful trait to people living in the tropics, where malaria is common.\n\nThe Pima "fat-Storage Mutation."\n\nResearchers have noted a high incidence of obesity among the Pima, a Native American tribe whose ancestral homeland is along the Gila and Salt rivers in Arizona. The Pima tend to eat a diet that is no more fatty than that of the average American—which, of course, means that it is plenty fatty, complete with chips, bologna, ice cream, and all the other high-calorie, low-nutrient foods that most Americans consume. But whereas the average American is over-weight, the average Pima is more dramatically so. This suggests that long ago, when the ancestors of the Pima had to face repeated periods of famine in the dry lands of the American Southwest, survival favored the individual or individuals who had a mutation for fat storage. It so happens that today, there is more than enough food at the local supermarket, but by now the Pima as a group has the fat-stora
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Hi, I think autism and sensory disorders (trouble with balance) are inherited because quite a few people in my family are just like the people you are talking about. It could very well be Asperger's Syndrome because both boys and girls can have this and they do include all the problems that you mentioned. However...Asperger's Syndrome has no facial changes. It could be a different syndrome closely related though...lots of genetic syndromes can have symptoms that are very closely related to autism. Some syndromes even include what is called autistic like behaviors. Have you ever thought of getting the family...all of them tested at a geneticist? Also it could be a metabolic problem so you could also have everyone tested with a specialist in metabolics. The tests are usually just a simple blood test...nothing scary or anything. Good Luck!
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I don't have it, but I do know that when it is a familial disorder, it virtually always passes from mother to children, as it is a mitochondrial disorder, and all cellular organelles come from the mother's egg (the sperm basically supply just the DNA).  It can occur sporadically.  It is a A3243G mutation in the mitochondrial genetic code.  A good resource for the "technical" information.  http://www.emedicine.com/ped/topic1406.htm
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Everthing you ever wanted to know about DNA.\n\nhttp://www.dnaftb.org/dnaftb/
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It depends on the kind of muscular dystrophy your family has whether it will be passed on to what gender children you have, first of all. I'm guessing that they aren't all boys. If that is the case then there could be a chance that one of your X chromosomes (if you are a female) is carrying the latent form of the disease. \n\nMales are born with XY chromosomes and females with XX (if you did't already know this). That being the case, males tend to get diseases that are X-linked---that are 'carried' on the X chromosome because they don't have another X chromosome to block out the effects of the one bad X. \n\nAnother factor is whether you are a man or woman (I couldn't tell from your question). If you are female, your X chromosome COULD have a latent form of the disease on it. I dbout you do have a 'bad' X if you are female, however. If your father tested negative for muscular dystrophy, and he passed his X chromosome to you (which he did if you are female remember) you would have no underlying problems in your genes to pass on to your offspring. \nIf you are male, you recieved your X chromosome from your mother by default, so unless MD runs in that side of the famiy too, I think you don't have to worry about passing it to your children. \n\nIn conclusion, I think you are safe. But because I am NOT a doctor or geneticist and I rather not be blamed if your child does end up with muscular dystrophy one day, I suggest you see a doctor for more solid answers. \nI hope this helps you otherwise, and I included a link if you are interested.
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Prader-Willi syndrome is a genetic disorder characterized in infancy by diminished muscle tone, feeding difficulties, and failure to grow and gain weight.  You can read more here\nhttp://www.med.umich.edu/1libr/yourchild/praders.htm
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Hmm, interesting answers. Norah, the only correlation that I have seen, recently, is that when there is a child in the family who is on the Autism Spectrum, other children, within that family, have an increased risk of Autism, dyslexia, or other developmental/learning delays.  The reason for this is not yet known, and being researched at this time.  If you want to email me, I can give you some info as to where I found that.  Don't have it in front of me at the moment.  By the way...Julie, do you think there was a less harsh way of putting your rather judgemental answer?
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Actually, I'm an epidemiologist, and i have read papers concerned the links between paternal age and rates of autism. then again, correlation doesn't equal causation, and golly, it seems everything's being blamed for autism these days.\n\nanyway, if a BMJ article can surface in the US and get read by me, then I'm sure it's not lacking for attention. Andy es, i have seen Yahho!News postings about advanced paternal age and its association with various health outcomes.\n\ndid you want me to post a blurb from it? i have access to BMJ from this terminal.
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Scientists have reported that they've found an "extremely unusual" trait in the cells of some mothers with two or more gay sons, providing more evidence to suggest that homosexuality might be inherited.\n\n\nMothers of multiple gay sons were about six times more likely than other women to process their X chromosomes in a certain way, researchers discovered.\n\n\nResearchers aren't entirely sure what the findings mean, said study co-author Sven Bocklandt, a postdoctoral researcher at UCLA. Making things more complicated, about 75 percent of mothers of multiple gay sons don't have the trait.\n\n\nStill, the study, released Tuesday in the journal Human Genetics, raises plenty of questions, Bocklandt said, especially as researchers try to figure out whether homosexuality has genetic roots and if there truly is a "gay gene" -- or genes.\n\n\n"What everybody wants is the gene, and we don’t have it yet," Bocklandt said. "But this is an independent confirmation that the X chromosome is involved."\n\n\nBocklandt and colleagues looked at a phenomenon known as X-chromosome inactivation, in which cells inside the bodies of females automatically turn off -- or inactivate -- one of their two X chromosomes. That leaves them with one working X chromosome -- just like males, who have a single X and a single Y chromosome.\n\n\nNormally, each cell in a female's body randomly turns off one or the other X chromosome. In some cases, such as when families share a genetic disease, there is "extreme skewing" -- one X chromosome is more likely to be turned off than the other, Bocklandt said.\n\n\nIn the new study, the researchers looked at 97 mothers of one or more gay sons and 103 women with no gay sons to see what their blood cells did with their X chromosomes. The researchers recruited many of the women with the help of PFLAG.\n\n\nThey found that nearly a quarter of the mothers of multiple gay sons inactivated the same X chromosome -- in other words, nonrandomly -- compared to just 4 percent of the women without gay sons. Of those with one gay son, 13 percent inactivated the same X chromosome.\n\n\nDr. Ionel Sandovici, a genetics researcher at the Babraham Institute in Cambridge, England, who is familiar with the research findings, cautioned that the study is small, with just 44 mothers of multiple gay sons being examined. More research in larger groups must be done to confirm the results, Sandovici said.\n\n\nThe research does provide "circumstantial evidence" that the X chromosome contributes to the development of male sexuality, Sandovici said. But "we still understand very little about molecular mechanisms of sexual orientation, and this seems to be rather a complicated biological puzzle."\n\nBut of course its Nature vs. Nurture and its possible that the person could just become gay because of his environment/experiences or just be born that way.
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Thanks for the information, I saved the link and will read thought it later. I have a 5 year old nephew who has been diagnosed as autistic, he also has vision problems. I have had my doubts about the diagnosis from the beginning, hope your paper helps bring some light to the situation. \nThanks.
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From what I have read, it appears that it is autosomal dominant and is not X-linked as the gene most likely responsible lies on chromosome 1.\nHope this helps
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Not sure if this will help but try the link below\n\nhttp://www.answers.com/topic/gene
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Here are good sites, with some general and specic information (follow the links for your favorite disease).  \n\nGenetests, NCBI and OMIM.  You will have to navigate the sites to mine for info.\n\nThese sites were provideded by a Yale professor who specialized in DNA diagnostics. \n\nI got an "A" in the class, and you will look very bright in your upcoming seminar by reviewing this material too.  These  are superb resources.\n\nPass on this great Karma.\n\nBest Wishes!
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Tell him not to worry, it is surprisingly common, my son went through this recently.  The condition can last up to a year, and is primarily connected to puberty.\nI know it will be tough, lots of boys may take the mickey, but he just has to get through it.  With a good mate there for him he should be ok.