can anyone help with a medical reseach on muscular distrophy?
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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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Try:\nhttp://www.nlm.nih.gov/medlineplus/ency/article/003058.htm
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I could copy the answer, but I have some good links instead. \nSkeletal muscle fibers are multinucleated and fusiform, and basically contain myofibrills. See details at the link:\nhttp://training.seer.cancer.gov/module_anatomy/unit4_2_muscle_structure.html\n\nPay special attention to the myofibrils, the mitochondria and the sarcoplasmic reticulum :-)\n\nIllustrations of structure at different levels (I wish these pictures had been around years ago when I studied this!):\nhttp://www.agen.ufl.edu/~chyn/age2062/lect/lect_19/179.gif\nhttp://www.mhhe.com/biosci/esp/2001_gbio/folder_structure/an/m5/s5/assets/images/anm5s5_1.jpg
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Ha, that's a good one.  Do some searches on ogoplex, roplex, and viacil supplements.  There's a combination of saw palmetto and other herbs that actually can work very well...maybe not quite Peter North well but it makes a difference.  Also - testosterone boosting supplements help as well.  Vitrix is one of the high quality/potency tribulus tablets that is used for promoting muscle growth.  It works by tricking your body into creating more testosterone.  I think you can see the correlation here.  I have a few friends in their 50's that are swearing by this combination, as well as adding some L-arginine or nitric oxide supplements.  It worked well enough to get them to give up the viagra, so I'd say it's pretty effective.
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I would suggest posting at fibrohugs.com asking for a doctor in your area. The website has a lot of posters, so they might be able to help.
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See:\n\nhttp://www.nlm.nih.gov/medlineplus/ency/article/000949.htm
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YES!\nhttp://www.medicine4men.com/malem.html
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Kennedy disease (KD) or X-linked spinal-bulbar muscle atrophy is a neuromuscular disease associated with mutations of the androgen receptor (AR). Because of its endocrine manifestations related to the impairment of the AR, it can be viewed as a variation of the disorders of the androgen insensitivity syndrome (AIS). It is named after WR Kennedy, a neurologist who was among the first to describe this disease.\nContents\n[hide]\n\n    * 1 Genetics\n    * 2 Pathology\n    * 3 Signs and symptoms\n          o 3.1 Neuromuscular\n          o 3.2 Endocrine\n          o 3.3 Homozygous females\n    * 4 History\n    * 5 References\n    * 6 External links\n\n[edit]\n\nGenetics\n\nAs a sex-linked disease, KD affects males, while females are carriers. The gene for the AR is located on the X chromosome (Xq11-q12).\n[edit]\n\nPathology\n\nThe distinctive AR mutation of Kennedy disease, reported in 1991, involves multiplied CAG repeats in the first exon (trinucleotide repeats). Such a CAG repeat encodes a polyglutamine tract in a part of the androgen receptor outside of the binding sites. The more CAG repeats are present, the more severe the disease. The mechanism by which this type of mutation causes neuromuscular disease is not completely understood, specifically as complete AIS does not affect neuromuscular activity. KD may share mechanistic features with other neurodegenerative disorders that are caused by polyglutamine expansion, such as Huntington's disease.\n[edit]\n\nSigns and symptoms\n\nAges of onset and severity of manifestations in affected males vary from adolescence to old age, but most commonly develop in middle adult life. The latest onset was described in a male of 84 years of age. KD does not usually compromise longevity. The syndrome has neuromuscular and endocrine manifestations:\n[edit]\n\nNeuromuscular\n\nEarly signs often include weakness of tongue and mouth muscles, fasciculations, and gradually increasing weakness of proximal limb muscles with muscle wasting. In some cases, premature muscle fatigue begins in adolescence. Neuromuscular management is supportive, and the disease progresses very slowly and often does not lead to extreme disability.\n[edit]\n\nEndocrine\n\nEndocrine manifestations of this disorder are variable and rarely include underdevelopment of internal or external genitalia. In other words, most people affected with Kennedy disease are relatively normal XY men with normal fertility. However, exaggerated and persistent gynecomastia is common and often the only symptom, while in more severe forms testicular atrophy and infertility have been described. Many affected men have the mildly high LH, testosterone, and estradiol levels characteristic of other forms of the androgen insensitivity syndrome.\n[edit]\n\nHomozygous females\n\nHomozygous females, whose both X chromosomes have a mutation leading to CAG expansion of the AR gene, show only mild symptoms of muscle cramps and twitching. No endocrinopathy has been described.\n[edit]\n\nHistory\n\nThis disorder was described by Kennedy in 1968. In 1991 it was recognized that the AR is involved in the disease process. The disease is probably more common than originally thought. A study in Scandinavia suggested a prevalence of 1.3/8,500 making KD the most common form of motor neuron disease in the specific area studied; nobody had been diagnosed before 1995. It has been suggested that some men with KS are may be misdiagnosed to have amyotrophic lateral sclerosis (ALS, also Lou Gehrig's disease).\n[edit]\n\nReferences\n\n   1. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked recessive trait. Neurology 1968;18:671-680. PMID 4233749.\n   2. La Spada A, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 1991;352:77-79.\n   3. Fischbeck KH, Lieberman A, Bailey CK, Abel A, Merry DE. Androgen receptor mutation in
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It's tough to put an exact figure on, but it's rare.  It's exact rarity is tough to peg; because it's so rare, it's not a well known illness to diagnose.  Mild forms of it are often written off as muscular dystrophy.  There's likely instances of MM that weren't diagnosed as MM because the infant died before a correct diagnosis was made.  The rarest variants of MM have a estimate of affecting 1 in about a billion people.
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www.mda.org\nwww.mdausa.org\nwww.ninds.nih.gov\nwww.muscular-dystrophy\n\nWikipedia info \nGenetics\n\n\n\nDuchenne dystrophy is a type of dystrophinopathy which includes a spectrum of muscle disease caused by mutations in the DMD gene, which encodes the protein dystrophin. Becker's muscular dystrophy is a milder type of dystrophinopathy. Although it is caused by a defective gene, it often occurs in people from families without a known family history of the condition.\n\nDuchenne muscular dystrophy is inherited in an X-linked recessive pattern. Because of random X inactivation, some women carriers can actually be partially affected by this disease, despite its recessive nature. X inactivation leads to women being in a state of X0, not XX as is usually thought (see below). Women who carry the defective gene can pass an abnormal X on to their sons. Since boys have an X from their mother and a Y from father, there is no second X to make up for the defective gene from the carrier mother. The sons of carrier females each have a 50% chance of having the disease, and the daughters each have a 50% chance of being carriers. Daughters of men with Duchenne will always be carriers, since they will inherit an affected X chromosome from their father (note that the diagram only shows the results from an unnaffected father). Some females will also have very mild degrees of muscular dystrophy, and this is known as being a manifesting carrier.\n\nPrenatal testing, such as amniocentesis, for pregnancies at risk is possible if the DMD disease-causing mutation has been identified in a family member or if informative linked markers have been identified.\n\nIn 30% of the cases, the disease is a result of a spontaneous mutation.\n\nIn some female cases, DMD is caused by skewed x inactivation. In these cases, two copies of the x chromosome exist, but for reasons currently unknown, the flawed x chromosome manifests instead of the unflawed copy. In these cases, a mosaic form of DMD is seen, in which some muscle cells are completely normal while others exhibit classic DMD findings. The effects of a mosaic form of DMD on long-term outlook is not known.\n\n[edit]\nPatho-mechanism\nDuchenne muscular dystrophy is caused by a mutation of the dystrophin gene whose protein product is responsible for linking the actin filaments of muscle fibres to the extracellular matrix through a protein complex containing many subunits. As a result, the sarcolemma is damaged through shearing forces and muscle fibres undergo necrosis and are ultimately replaced with adipose and connective tissue.\n\n\n\n\n[edit]\nSymptoms\nMuscle weakness \nRapidly progressive \nFrequent falls \nDifficulty with motor skills (running, hopping, jumping) \nProgressive difficulty walking \nAbility to walk can be lost by age 11 \nFatigue \nIntellectual impairment (in approx. 30% of Duchenne's patients) \nSkeletal deformities \nChest and back (scoliosis) \nMuscle deformities \nContractures of heels, legs \nPseudohypertrophy of tongue and calf muscles \nMild mental retardation in some cases \nScoliosis in some cases \n\nSymptoms usually appear before age 6 and may appear as early as infancy. There is progressive muscle weakness of the legs and pelvis, which is associated with a loss of muscle mass (wasting). Muscle weakness also occurs in the arms, neck, and other areas, but not as severely or as early as in the lower half of the body. Calf muscles initially enlarge -- the enlarged muscle tissue is eventually replaced by fat and connective tissue (pseudohypertrophy). Muscle contractures occur in the legs, rendering the muscles unusable because the muscle fibers shorten and fibrosis occurs in connective tissue.\n\n[edit]\nSigns and tests\nThe pattern of symptom development resembles that of Duchenne's muscular dystrophy, but with a much slower rate of progression. Muscle wasting begins in the legs and pelvis, then progresses to the muscles of the shoulders and neck, followed by loss of arm
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(m)\n\nThere is no known cure for myotonia congenita, and treatment is supportive as needed. The use of anticonvulsant drugs (quinine, phenytoin) can relieve some symptoms of the disease along with physical therapy and other rehabilitative measures to assist in muscle function. Genetic counseling may be valuable. \n\nProgression: This disorder causes discomfort but is not life-threatening. In Thomsen type myotonia congenita, symptoms stabilize after onset and do not progress with age. Becker type is a progressive disorder that tends to initially affect muscles in the legs. Within a few years, muscles of the arms are affected, and, eventually, the muscles of the jaw (masticatory) and face become involved.
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http://en.wikipedia.org/wiki/Cerebral_atrophy
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Duchenne Muscular Dystrophy is one of a group of muscular dystrophy's characterized the enlargement of muscles DMD is one of the most prevalent types of muscular dystrophy and is characterized by rapid progression of muscle degeneration. Duchenne was a French Neurologist who was the first to describe several nervous and muscular disorders.
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it definitely sounds like a great struggle. but as you described, intelligence is unbeatable, I would encourage you to keep doing what you are, try to look for peds neurology, better found in teaching institutes or university hospitals eg mayo, boston, houtson, indianapolis, etc. besides see if you find support groups for this condition, if you find none, consider starting one, since you and your family may not be the only one with this condition, wish you all the best, good luck
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If you have access to academic databases through a university, there should be lots of info in medical journals.  I'd also recommend referring to your local running club and contacting their leadership; if they can't find the exact info you want, they'll know someone who can.
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This is a question for doctors and counsellors and not "SOME" of the idots that use Yahoo Answers.\n\nYou are sure to have someone say some nasty things, prepare yourself.\n\nI've provided a very useful link to the Canadian, "Rick Hanson", the paraplegic that circled the globe in his wheelchair (and has kids) in his Man in Motion tour.\n\nMy best wishes for you in your future.\n\nI've read all of the questions you have asked. These questions are "MUCH TO PERSONAL" to be asking through this kind of medium. I admire your straight forwardness, but your questions are better left to your medical people.\n\nContact your Doctor, your Counsellor, first!... and then Rick Hanson.
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I suggest you ask your physician to refer you to a Geneticist, or you might find good info at the following:\n\nhttp://www.ninds.nih.gov/disorders/neurofibromatosis/neurofibromatosis.htm scroll down and you'll find more links.\n\nhttp://neurosurgery.mgh.harvard.edu/NFR/ this is a Harvard/MGH site scroll down and you'll find a Genetics link. \n\nI don't think you are going to get an expert opinion on Yahoo Answers. Hope you realize that most people just Google this stuff and aren't geneticists. This question is "hard to understand" because MOST people have never heard of Neurofibromatosis or von Recklinghausen's disease. And of course you'll get stupid answers...look who you are asking!