Duchenne and Becker Dystrophics?
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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
159467
That my special needs son will never walk...\n\nMy husband added he is afraid he will have his nipples cut off with toe nail clippers...LOL I swear its what he said!
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I am not sure if any of these are dominant (hopefully all recessive, or the couple will win the ugliest pair alive contest), but these are the possibilities:\ndad:  Hh Dd Ww\nmom:  Hh Dd Ww\n\nkids (27 possible combinations):\nhh dd ww                 \nhh dd Ww                 \nhh dd WW\nhh Dd ww                \nhh Dd Ww                \nhh Dd WW\nhh DD ww               \nhh DD Ww                \nhh DD WW\n\nHh dd ww                 \nHh dd Ww                 \nHh dd WW\nHh Dd ww                \nHh Dd Ww                \nHh Dd WW\nHh DD ww               \nHh DD Ww                \nHh DD WW\n\nHH dd ww                 \nHH dd Ww                 \nHH dd WW\nHH Dd ww                \nHH Dd Ww                \nHH Dd WW\nHH DD ww               \nHH DD Ww                \nHH DD WW\n\nNow without knowing whether these characteristics are dominant or recessive, I can't tell you what the possible phenotypes will be.
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He has MS.  You can log onto his website.  I think he has a link from there.
961312
Well, that is the Holy Grail of biochemistry and we've been dreaming of that ever since Dr. Pauling had me researching metabolic diseases, Lesch-Nyhan syndrome in particular.  The problem has been 1) finding the precise genetic coding of the fouled up part of the DNA and 2) devising a mechanism to clip out that nucleic base and replace it with the correct one (or series of bases).  Precision is, of course, vital or you'll kill the experimental animal (or, ultimately, human patient).
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Check the site and see if you can find an answer!\nhttp://www.drdrew.com/
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Try a search at http://scholar.google.com for scientific journals and papers.\nI found a reference to both conditions in the report of a meeting (but it's dated, back to 1984):\nhttp://www.springerlink.com/(ajt3uaqoyemidvn1ctmeng45)/app/home/contribution.asp?referrer=parent&backto=issue,2,15;journal,138,141;linkingpublicationresults,1:101176,1\nA more recent reference:\nhttp://www.co-urology.com/pt/re/courology/abstract.00042307-200105000-00004.htm;jsessionid=EJbhE8FmcU9PcdyGTBP1kds3i2j7oQ7G39yVJPM0Uf5huKE1m6u6!276062241!-949856144!9001!-1
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http://www.dent.ucla.edu/pic/members/microbio/mdphome.html
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It is basically Progeria in adults. Werner syndrome is inherited as an autosomal recessive disorder of chromosome 8, meaning that a defective gene is inherited from each parent. Werner syndrome may begin in adolescence, but most often it begins in the mid-30s. \n\nUp until symptoms begin, the individual has healthy normal development. Once the disease process begins, the individual's body begins to age faster than normal. This produces symptoms such as: \n\nWrinkling and sagging of the face \nDecreasing muscle mass \nThin skin and loss of fat under the skin \nGraying hair and hair loss \nA high-pitched voice \nCataracts (cloudy spots on the lens of the eye) \nOsteoporosis (weakened bones) \nDiabetes (type 2) \nRare cancers such as thyroid cancer, lymphoma, and sarcoma \nHeart and artery disease \nPremature menopause in females.
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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
51143
could just be age, genetics or vitamin deficency
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They have been linked for quit some time now. I research the condition just about every other day. This site ghas good info. http://www.autismtoday.com/index.asp
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Ss and Ss\n\nGenotype of both parents are heterozygous. If you draw out the Punnet square, you see 1/4 of the offspring will have long hair while 3/4 will have short hair. The phenotypic ratio of long hair to short hair ends up being 1:3, just like the puppies are 2:6.\n\nGenotype ratio ends up being:\n1/2 heterozygous Ss\n1/4 homozygous dominant SS\n1/4 homozygous recessive ss\n\nHope this helps.
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<muscular dystrophy (dĭs'trōfē) , any of several inherited diseases characterized by progressive wasting of the skeletal muscles. There are five main forms of the disease. They are classified according to the age at onset of symptoms, the pattern of inheritance, and the part of the body primarily affected.\nTypes of Muscular Dystrophy\n\nThe most common form of muscular dystrophy, Duchenne, was first described by the French physician Guillaume Benjamin Amand Duchenne in 1861. Most cases are caused by a recessive sex-linked gene located on the X chromosome and carried only by females. Each son of a carrier has a 50% chance of inheriting the gene and developing the disease. Each daughter has a 50% chance of inheriting the gene and becoming a carrier. In small number of “sporadic” cases there is no family history. The disease begins with leg weakness before age 3 and progresses rapidly, with death often occurring before age 30, often because of involvement of lung or heart muscle. Research has shown that the abnormal gene fails to produce an essential skeletal muscle protein called dystrophin. Becker's muscular dystrophy is similar to the Duchenne form, but appears somewhat later in life and progresses more slowly.\n\nFascioscapulohumeral muscular dystrophy primarily involves facial and shoulder muscles and affects both sexes. Symptoms can begin from adolescence to around age 40. It is caused by an autosomal dominant trait (at least one parent will have the disease). Progression is usually slow and severe disability is unusual.\n\nMyotonic muscular dystrophy is another autosomally dominant disease affecting both sexes. It appears to be caused by the repetition of a section of DNA on chromosome 4. In a surprising development, researchers found that the number of repetitions on the chromosome increase and the disease becomes more severe with each generation. It is characterized by an inability of the muscles to relax properly after contraction and primarily affects the muscles of the hands and feet. It usually begins in adulthood and is often accompanied by cataracts, baldness, and abnormal endocrine function.\n\nThe limb-girdle form of the disease first affects the muscles of the hip and shoulder areas. Symptoms usually become apparent in late adolescence or early adulthood. Caused by an autosomal recessive trait (carried by a gene passed on by both asymptomatic parents), it can affect males and females alike. This form usually progresses slowly.\n\nTreatment\n\nThere is no known treatment or cure for muscular dystrophy. Supportive measures and exercises can improve the quality of life and preserve mobility for as long as possible. Scientists have begun to identify the genetic abnormalities responsible for multiple dystrophy and hope that further understanding will lead to treatment. Genetic screening is recommended for all family members who might be carriers. Prenatal tests such as chorionic villus sampling and amniocentesis can detect some forms of muscular dystrophy early in a pregnancy.
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Check out wilsonsthyroidsyndrome.com.  I have low temp and so did my MD!  He told me about this site.  It's very interesting.
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Hi.\n\nWebMD has an excellent article on this:\n\nhttp://www.webmd.com/content/article/115/111787.htm\n\n\nBest! :-)
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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