41. Myotonic Dystrophy You and your group have been assigned myotonic dystrophy. What if a doctor suspectsan individual has myotonic dystrophy? What about having children? http://edservices.aea7.k12.ia.us/edtech/teacherpages/cwinstead2/MyotonicDystroph

You and your group have been assigned Myotonic Dystrophy. Below are the internet links to help you in your research. Back To Main Page Quick Definition Questions and Answers Does It Run In The Family ... To Top of Page

42. Myotonic Dystrophy ....... myotonic dystrophy. Definition. myotonic dystrophy is a progressive disease in whichthe muscles are weak and are slow to relax after contraction. http://www.healthatoz.com/healthatoz/Atoz/ency/myotonic_dystrophy.html

Encyclopedia Index M Home Encyclopedia Encyclopedia Index M Myotonic dystrophy Definition Myotonic dystrophy is a progressive disease in which the muscles are weak and are slow to relax after contraction. Description Myotonic dystrophy (DM), also called dystrophia myotonica, myotonia atrophica, or Steinert disease, is a common form of muscular dystrophy . DM is an inherited disease, affecting males and females approximately equally. About 30,000 people in the United States are affected. Symptoms may appear at any time from infancy to adulthood. DM causes general weakness, usually beginning in the muscles of the hands, feet, neck, or face. It slowly progresses to involve other muscle groups, including the heart. DM affects a wide variety of other organ systems as well. A severe form of DM, congenital myotonic dystrophy, may appear in newborns of mothers who have DM. Congenital means that the condition is present from birth. DM occurs in about 1 of 20,000 people and has been described in people from all over the world. Causes and symptoms The most common type of DM is called DM1 and is caused by a mutation in a gene called myotonic dystrophy protein kinase (DMPK). The DMPK gene is located on chromosome 19. When there is a mutation in this gene, a person develops DM1. The specific mutation that causes DM1 is called a trinucleotide repeat expansion.

43. Emory Genetics Lab, Myotonic Dystrophy myotonic dystrophy. INDICATIONS, Click here for Gene Reviews Clinical Summary.myotonic dystrophy (DM) is the most common adult muscular dystrophy. http://www.emory.edu/WHSC/GENETICSLAB/dna/myotonic.htm

Myotonic Dystrophy INDICATIONS Click here for Gene Reviews Clinical Summary Myotonic dystrophy (DM) is the most common adult muscular dystrophy. It is inherited as an autosomal dominant disorder. DM presentation ranges from congenital to adult onset. The congenital form typically presents with hypotonia and respiratory distress often followed by early death or severe mental retardation. In adults, the characteristic findings include progressive weakness, muscle wasting, myotonia, lenticular opacities, frontal balding and testicular atrophy. DM has been associated with an amplification of an unstable CTG repeat in the DMPK gene. Normal individuals carry less than 40 repeats. Affected individuals carry 50 to over a few thousand repeats. The size of the repeats correlates with the severity of the phenotype. Testing for DM includes PCR amplification to detect smaller alleles and Southern analysis to detect large expansions. SPECIMEN SPECIMEN REQUIREMENTS SHIPPING REQUIREMENTS Blood 5-10 ml whole blood in an EDTA ( purple top ) or ACD ( yellow top ) tube.

44. AAEM - Patient Resources - Myotonic Dystrophy Patient Resources myotonic dystrophy. ?. Membership Directory. PracticeIssues / Advocacy. Werdnig-Hoffman Disease. Writer's Cramp. myotonic dystrophy. http://www.aaem.net/aaem/patientInfo/myotonic_dystrophy.cfm

Patient Resources - Myotonic Dystrophy Membership Directory Practice Issues / Advocacy Employment/Training Career Center Fellowship Listing EDX Courses Training Links ... List Rental Listed below are five general categories of symptoms that muscle and/or nerve disorders fall into that you can explore. Or, click on a specific disorder from the list down the left side of your screen. Click on a disorder for more information: Acute Inflammatory Demyelinating Polyradiculopathy (AIDP) Amyotrophic Lateral Sclerosis (ALS) Arthyrogryposis Multiplex Congenital (AMC) Autonomic Disorders ... Myotonia Congenita Myotonic Dystrophy Neck Pain Neuromuscular Junction Defect Neuropathy Peripheral Neuropathy ... Writer's Cramp Myotonic Dystrophy Myotonic Dystrophy is a disorder of muscle membranes that results in muscle stiffness and weakness. Symptoms may become noticeable anytime from infancy to adulthood. Most cases are inherited in an autosomal (any chromosome that is not related to a person’s sex) dominant fashion. There may be associated cognitive problems, such as: diabetes, glaucoma, and frontal balding. Some drugs are useful to treat symptoms of stiffness, but there is presently no cure available. For More Information:

45. Psychostimulants For Hypersomnia (excessive Daytime Sleepiness) In Myotonic Dyst All rights reserved. Psychostimulants for hypersomnia (excessive daytime sleepiness)in myotonic dystrophy (Cochrane Review). Annane D, Miller R, Barnes P. http://www.update-software.com/abstracts/ab003218.htm

From The Cochrane Library, Issue 1, 2003 Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy (Cochrane Review) Annane D, Miller R, Barnes P ABSTRACT Order full review View and/or submit comments What's new in this issue Search abstracts ... About The Cochrane Library A substantive amendment to this systematic review was last made on 21 August 2002. Cochrane reviews are regularly checked and updated if necessary. Background: Excessive daytime sleepiness is a common symptom of myotonic dystrophy. Psychostimulants are drugs increasingly used to treat hypersomnia in myotonic dystrophy. Objectives: To search systematically for, and combine all evidence from, randomised trials relating to the effects of psychostimulants in myotonic dystrophy patients with hypersomnia. Search strategy: We searched the Cochrane Neuromuscular Disease Trial Register (searched May 2001) for randomised trials concerning psychostimulants in myotonic dystrophy, we searched of the bibliographies of identified papers and we contacted the authors of the papers. Selection criteria: We considered all randomised or quasi randomised trials that have evaluated any type of psychostimulants (versus a placebo or no treatment) in children or adults with proven myotonic dystrophy and hypersomnia.

46. Myotonic Dystrophy MAIN SEARCH INDEX myotonic dystrophy. myotonic dystrophy is a progressive diseasein which the muscles are weak and are slow to relax after contraction. http://www.hendrickhealth.org/healthy/000943.htm

MAIN SEARCH INDEX Myotonic dystrophy Definition Description Causes and symptoms Diagnosis ... Resources Definition Myotonic dystrophy is a progressive disease in which the muscles are weak and are slow to relax after contraction. Description Myotonic dystrophy (DM), also called dystrophia myotonica, myotonia atrophica, or Steinert disease, is a common form of muscular dystrophy . DM is an inherited disease, affecting males and females approximately equally. About 30,000 people in the United States are affected. Symptoms may appear at any time from infancy to adulthood. DM causes general weakness, usually beginning in the muscles of the hands, feet, neck, or face. It slowly progresses to involve other muscle groups, including the heart. DM affects a wide variety of other organ systems as well. A severe form of DM, congenital myotonic dystrophy, may appear in newborns of mothers who have DM. Congenital means that the condition is present from birth. DM occurs in about 1 of 20,000 people and has been described in people from all over the world. Causes and symptoms The most common type of DM is called DM1 and is caused by a mutation in a gene called myotonic dystrophy protein kinase (DMPK). The DMPK gene is located on chromosome 19. When there is a mutation in this gene, a person develops DM1. The specific mutation that causes DM1 is called a trinucleotide repeat expansion.

47. One Mystery Explained In Myotonic Dystrophy (Sept. 2002) One mystery explained in myotonic dystrophy A misstep cells. This geneis effectively turned off in myotonic dystrophy muscle. As http://www.fromthelab.net/vol01/is1/02sept_n2.htm

Sept. 3, 2002 Current Issue Past Issues About Us Public Affairs ... Baylor Home Sign up for free newsletter: Email Subscribe Unsubscribe Office of Public Affairs Baylor College of Medicine One Baylor Plaza - 176B Houston, TX 77030 Tel: (713) 798-4712 Fax: (713) 798-3692 email: pa@bcm.tmc.edu Photos Available Upon Request One mystery explained in myotonic dystrophy A misstep in the production of a protein key to proper muscle function causes a major symptom of myotonic dystrophy, the most common form of adult onset muscular dystrophy, said researchers at Baylor College of Medicine, who published their report in the July 19, 2002, issue of the journal Molecular Cell. The glitch that Thomas A. Cooper, MD, and colleagues found starts with the genetic mutation that causes the disease - a kind of regional stuttering that occurs as a gene is copied during the process of replication. As the genetic information is translated into proteins, the process creates a "stutter" or repeats of a small region within the gene, an unusual kind of mutation that causes disease in an even more unusual way. When the gene is "turned on" and copied into RNA, the repeated sequence causes the aggregation of the RNA in the cell nucleus, disrupting the functions of some other genes. The abnormal behavior of these other genes is what causes the disease.

48. Autosomal Dominant: Myotonic Dystrophy - Lucile Packard Children's Hospital Medical Genetics. Autosomal Dominant myotonic dystrophy Genes are inheritedfrom our biological parents in specific ways. What is myotonic dystrophy? http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/autosom.html

Genetics Clinic Metabolic/Biochemical Genetics Clinic Medical Geneticists Medical Genetics Medical Genetics Autosomal Dominant: Myotonic Dystrophy Genes are inherited from our biological parents in specific ways. One of the basic patterns of inheritance of our genes is called autosomal dominant inheritance. What is autosomal dominant inheritance? Autosomal dominant inheritance means that the gene is located on one of the autosomes (chromosome pairs 1 through 22). This means that males and females are equally affected, and "dominant" means that only one gene is necessary to have the trait. When a parent has a dominant trait, there is a 50 percent chance that any child they have will also inherit the trait: There are four possible combinations in the children. Two of the four, or 50 percent, have inherited the trait. The other 50 percent have not inherited the trait. These four combinations are possible every time a pregnancy occurs between these two individuals. The gender of the children (whether they are sons or daughters) does not matter. The chance is 50/50 for each pregnancy. What is myotonic dystrophy?

49. Misstep In Protein Formation Causes Disorder In Myotonic Dystrophy Misstep in protein formation causes disorder in myotonic dystrophy. Thisgene is effectively turned off in myotonic dystrophy muscle. http://public.bcm.tmc.edu/pa/myotonicdys.htm

John Tyler jtyler@bcm.tmc.edu Misstep in protein formation causes disorder in myotonic dystrophy HOUSTON(July 19, 2002)A misstep in the production of a protein key to proper muscle function causes a major symptom of myotonic dystrophy, the most common form of adult onset muscular dystrophy, said researchers at Baylor College of Medicine in a report in today's issue of the journal Molecular Cell. Dr. Thomas A. Cooper and colleagues found a glitch in one of the mechanisms that regulates the translation of genetic information into proteins. The mutation that causes myotonic dystrophy is a kind of regional "stuttering" that occurs as the gene is copied creating repeats of a small region within the gene. This repeated sequence is an unusual kind of mutation. How this mutation causes disease is even more unusual. When the gene is "turned on" and copied into RNA, the repeated sequence causes the aggregation of the RNA in the cell nucleus disrupting the functions of some other genes. The abnormal behavior of these other genes is what causes the disease. The results show that one of the genes affected tells the cell to make a particular chloride channel key to the proper functioning of muscle cells. This gene is effectively "turned off" in myotonic dystrophy muscle. As a result, the muscles still contract but have a reduced ability to relax. This is called myotonia, a major symptom for which the disease was named.

50. Researchers Unravel Genetic Connection To Myotonic Dystrophy 713798-4712 pa@bcm.tmc.edu. Researchers Unravel Genetic Connectionto myotonic dystrophy. HOUSTON(April 1998)Scientists have http://public.bcm.tmc.edu/pa/myotonicdyst.htm

pa@bcm.tmc.edu Researchers Unravel Genetic Connection to Myotonic Dystrophy HOUSTON(April 1998)Scientists have found a novel way in which genetic diseases can be causeda discovery that reveals how a genetic flaw causes the most common form of adult muscular dystrophy. Researchers at Baylor College of Medicine in Houston determined that the defective gene associated with myotonic dystrophy controls a number of other genes. When copies of genetic information from the defective gene accumulate, a specific protein binds or sticks to those copies. This prevents the protein from regulating other genes. These findings, reported in the May 1 issue of the journal Science, "potentially explain why so many different organs can be affected by myotonic dystrophy," said Dr. Thomas A. Cooper, Baylor associate professor of pathology and principal investigator for the study. Myotonic dystrophy, which results in progressive degeneration of the head, neck and arm muscles, can also cause cataracts, endocrine problems and mental retardation. The disorder occurs in one in 8,500 people and tends to run in families.

51. Epidemiology Of Myotonic Dystrophy back myotonic dystrophy prevalence in the population and incidence atbirth Country, Region, Prevalence, Incidence, Reference. myotonic dystrophy. http://www.enmc.org/enmc/epidemiology/Myotonic.tab.htm

back Myotonic dystrophy : prevalence in the population and incidence at birth Country Region Prevalence Incidence Reference Year Affected Total X 10-6 Years Affected Total X 10-6 Canada Alberta Monckton et al (1982) Germany Grimm (1975) Iceland Veneto Gudmundsson (1968) Ireland Northern Lynas (1957) Italy Turin Pinessi et al (1982) Veneto severe cases all cases Mostacciuolo et al (1987b) Mostacciuolo et al (1987b) Japan Kumamoto Araki et al (1987) Okinawa Nakagawa et al (1991) Shimane Takeshita et al (1977) Norway 573 762 (children) Switzerland Klein (1958) Todorov et al (1970) U.S.A. Minnesota Kurland (1958) Yugoslavia Ljubljana Zidar (1990), see also Faganel et al (1977) * refers to heterozygote frequency not actual affecteds. = ascertainment probability Note : References: Araki S, Uchino M, Kumamoto T. Prevalence studies of multiple sclerosis, myasthenia gravis, and myopathies in Kumamoto District, Japan. Neuroepidemiology Chen K-M, Brody JA, Kurland LT. Patterns of neurologic diseases on Guam. Arch Neurol Faganel J, Lavric A, Srsen V, Tivadar I. Degenerativne zivcano-misicne bolesti u Sloveniji. Neurologija (Yugoslavia) 1977;

52. International Myotonic Dystrophy Organization Return to Search Page International myotonic dystrophy Organization. PO Box 1121Sunland, CA 910411121 Conditions myotonic dystrophy. Year Established 1999 http://www.geneticalliance.org/Resources/displayorganization.html?orgname=Intern

53. Evaluation Of A Gene Therapy For Myotonic Dystrophy (DM) Translate this page Alérion Evaluation of a gene therapy for myotonic dystrophy (DM). Subvention Associationcanadienne de la dystrophie musculaire (L') Subvention de recherche http://www.ulaval.ca/vrr/rech/Proj/69706.html

Evaluation of a gene therapy for myotonic dystrophy (DM) Subvention Association canadienne de la dystrophie musculaire (L') Subvention de recherche Description Domaine(s) de recherche Génétique Chercheur(s) Jack Puymirat , Médecine, Département de médecine, responsable du projet Tranche(s) de financement Association canadienne de la dystrophie musculaire (L') Date de fin: Demande de correction

54. EPEC - Educating Parents Of Extra-special Children - Myotonic Dystrophy myotonic dystrophy. myotonic dystrophy is an inherited disorder in which the musclescontract but have decreasing power to relax. myotonic dystrophy Pathology. http://www.epeconline.com/MyotonicDystrophy.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. Myotonic Dystrophy MYOTONIC DYSTROPHY is an inherited disorder in which the muscles contract but have decreasing power to relax. With this condition, the muscles also become weak and waste away. Myotonic dystrophy can cause mental deficiency, hair loss and cataracts. Onset of this rare disorder commonly occurs during young adulthood. However, it can occur at any age and is extremely variable in degree of severity. The myotonic dystrophy gene, found on chromosome 19, codes for a protein kinase that is found in skeletal muscle, where it likely plays a regulatory role. An unusual feature of this illness is that its symptoms usually become more severe with each successive generation. This is because mistakes in the faithful copying of the gene from one generation to the next result in the amplification of a genomic 'AGC/CTG triplet repeat', similar to that found in Huntington disease. Unaffected individuals have between 5 and 27 copies of AGC/CTG, myotonic dystrophy patients who are minimally affected have at least 50 repeats, while more severely affected patients have an expansion of up to several kilobase pairs. Other Sites For Information: International Myotonic Dystrophy Organization Welcome to GeneTests-GeneClinics National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members Logan Paige Foundation For Myotonic Dystrophy ... Myotonic dystrophy: Pathology A Division of

55. DCM Venture Projects. News: Myotonic Dystrophy: Geneticists' Diagnostics myotonic dystrophy GENETICISTS' DIAGNOSTICS. Russian geneticists have developeda method of diagnostics of the heaviest inherited disease myotonic dystrophy. http://www.vprojects.ru/eng/news/science/81.html

Russian version Innovation management Information technologies Energy ... Add technology Today 31/03/2003 SCIENCE NEWS news list news archive MYOTONIC DYSTROPHY: GENETICISTS' DIAGNOSTICS Russian geneticists have developed a method of diagnostics of the heaviest inherited disease - myotonic dystrophy. The method allows forecasting of the disease prior to the appearance of its signs and even in case of unborn infants. The work has been supported by such programs as "Human genome", "Priority directions of genetics" and "National priorities in medicine an healthcare." Myotonic dystrophy is the heaviest inherited disease. It has a lot of symptoms, which can show up with different severity including spasmodic jerks of muscles in response to a slightest irritation, progressing muscle weakness, heart lesions and cataract. On an average, one of 8 million people is suffering from myotonic dystrophy. The disease may be congenital but reveal itself in mature age when a person has already got children. What kind of future do they have? Will they get ill or not, in what age will it happen and how will the disease develop: heavier or easier than with their parents? Bashkirian geneticists began their investigation of the problem 10 years ago. At first, they found the gene responsible for the initiation of the disease. At very "tip" of it there is a very short DNA chain that has from 5 to 35 replications and if the number of replications is larger, from 130 to 1600, the person gets ill. The more replications there are, the sooner the disease develops and the more severe it will be. An ill parent's child may be quite healthy but if the child gets ill, then in 80% of cases it happens in younger age.

56. Myotonic Dystrophy Subject myotonic dystrophy Topic Area Neurology General Forum The Neurologyand Neurosurgery Forum Question Posted By Lozzer on Thursday, April 11, 2002 http://www.medhelp.org/forums/neuro/messages/31729a.html

Advertisement Welcome to Med Help International A not-for-profit organization Questions in The Neurology Forum are being answered by doctors from The Cleveland Clinic , consistently ranked one of the best hospitals in America. Subject: Myotonic Dystrophy Topic Area: Neurology - General Forum: The Neurology and Neurosurgery Forum Question Posted By: Lozzer on Thursday, April 11, 2002 Having recently been diagnosed with Myotonic dystrophy it has made me more aware of every slight dicomfort, irregularity in my body and worrying whether it has any direct relationship to the disease. I am due to go to see an eye specialist as my neurologist believes there is a problem with my eyes. Now I am worrying about this and would like to know two things really. Firstly what are the likely things that could be wrong with my eyes? and secondly I am a very keen soccer player i play two three times a week, am i likely to be affected by the disease with my playing, i.e will i not be able to play soon etc? would appreciate any help as it can be quite confusing and daunting, i am only 23 and this has come as a massive blow to my self esteem and well being.

57. Myotonic Dystrophy Subject myotonic dystrophy Topic Area Neuromuscular Forum The Neurology and NeurosurgeryForum Question Posted By Toni on Tuesday, February 09, 1999 My 5 http://www.medhelp.org/forums/neuro/archive/15888.html

Advertisement Welcome to Med Help International A not-for-profit organization Questions in The Neurology Forum are being answered by doctors from The Cleveland Clinic , consistently ranked one of the best hospitals in America. Subject: Myotonic Dystrophy Topic Area: Neuromuscular Forum: The Neurology and Neurosurgery Forum Question Posted By: Toni on Tuesday, February 09, 1999 Dear Toni: Sorry to hear about your daughter. You know the disease well, as you accurately describe anticipation where increased number of triple repeats worsens the phenotypic expression of the disease between generations. I have heard at meetings the talk about what happens to a person during their lifetime but I have not been convinced that it truely occurs in muscle. The problem from a theoretical point of view is that muscle is a post-mitotic tissue and the DNA present is not dividing and therefore the number of repeats would not change. There may be other influences that we are unaware of, but these factors have not been elucidated. Since, rbc's have no DNA, this should not be an issue in blood. I would watch as the literature progresses with this disease and triple repeat diseases in general and see about the confounding factors. I hope for the best with your daughter.

58. RC-LINK. Myotonic Dystrophy myotonic dystrophy I/ Dystrophia myotonica I. Sygdommen skyldes enforlænget repaet i genet DM på kromosom 19q13.2q13.3. Genetisk http://rclink.imbg.ku.dk/dm.html

Myotonic Dystrophy I/ Dystrophia myotonica I Sygdommen skyldes en forlænget repaet i genet DM på kromosom 19q13.2-q13.3 Genetisk diagnostik foretages på IMBG. Det er muligt at skelne mellem: Normale ; bærere = syge En til to analyser udføres: 1) 2 primers analyse til at finde heterozygote = normale (med 2 forskellige korte repeats). 2) 3 primers analyse til at skelne mellem syge (kort + langt) og homozygot-raske ( to ens korte repeats). NYT! Vi behøver ca 0.5-2.5 ml EDTA blod for analysen Sendes til. Hans Eiberg IMBG, bygn 24.4 Blegdamsvej 3 2200 København N Danmark Mere information se: OMIM, about Dystriphia myotonica

59. Myotonic Dystrophy Volume 37, 3rd Edition http://www.elsevier-international.com/e-books/viewbook.cfm?ID=174

60. Myotonic Dystrophy myotonic dystrophy The DNA test (PCR) detects the triplet repeat expansionthat causes myotonic dystrophy in at least 98% of cases. http://www.aruplab.com/guides/clt/tests/clt_a91b.htm

ARUP's Guide to Clinical Laboratory Testing (CLT) A B C D ... Search Note: Test code links throughout this Guide refer to the corresponding test in the User's Guide. Myotonic Dystrophy Test Number: Methodology: Polymerase Chain Reaction (PCR)/Southern blot Testing utilizes two methods: 1) amplification of the myotonin kinase gene (19q13.3) by polymerase chain reaction, followed by restriction enzyme digestion and 2) Southern blot analysis using probes that bind to DNA segments containing the expansion. Southern blotting detects large expansions that would not be detected by PCR alone. PCR is performed pursuant to an agreement with Roche Molecular Systems, Inc. Clinical Significance: Myotonic dystrophy testing is recommended for the confirmation of a clinical diagnosis in patients with or without a family history of the condition. A presymptomatic evaluation of at-risk individuals is also available, as is prenatal diagnosis from cultured cells for at-risk pregnancies or pregnancies with polyhydramnios and reduced fetal movement. Direct testing of amniotic fluid is not offered by ARUP. The DNA test (PCR) detects the triplet repeat expansion that causes myotonic dystrophy in at least 98% of cases. The size of a triplet repeat has a tendency to increase as it is transmitted though a family. Large expansions are associated with early onset of disease.

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