41. Myotonic Dystrophy - Wikipedia, The Free Encyclopedia myotonic dystrophy (DM) is a chronic, slowly progressing, The affected gene is called DMPK (myotonic dystrophy Protein Kinase) located on chromosome 19. http://en.wikipedia.org/wiki/Myotonic_dystrophy

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Myotonic dystrophy From Wikipedia, the free encyclopedia. Myotonic dystrophy (DM) is a chronic , slowly progressing, highly variable inherited disease that can manifest at any age from birth to old age. It is characterized by a wasting of the muscles (muscular dystrophy), opacity of the lens of the eyes ( cataracts ), heart conduction defects and myotonia (difficulty relaxing a muscle). Most notably, the highly variable age of onset is not randomly distributed within a family, but shows a highly characteristic decrease in successive generations, a phenomenon termed anticipation DM is a genetic disease which is inherited in an autosomal dominant way, meaning that inheriting a mutant gene from one parent will result in the disease- similar to Huntington's Disease , there is a 50% chance of inheriting DM from an affected relative. The affected gene is called DMPK (Myotonic Dystrophy Protein Kinase) which codes for a myosin kinase expressed in skeletal muscle. The gene is located on the long arm of

42. Scottish Muscle Network Myotonic Dystrophy Page. Long Term Study of myotonic dystrophy call for volunteers. myotonic dystrophy Support Guidelines for anaesthesia in patients with myotonic dystrophy. http://www.gla.ac.uk/centres/muscle/dm.htm

Scottish Muscle Network Myotonic Dystrophy Page Myotonic Dystrophy Care Card Version 10. How myotonic dystrophy may affect your health. Long Term Study of Myotonic Dystrophy: call for volunteers. Myotonic Dystrophy Support Group. Guidelines for anaesthesia in patients with myotonic dystrophy. ... How myotonic dystrophy may affect your health. Please note that this list covers all the ways myotonic dystrophy may affect your health, it is extremely unlikely that an individual patient would be troubled by them all. Personality changes are often the main problem reported by families and can include lack of motivation, inertia, stubbornness and liking a set routine. This can lead to relationship problems with family, friends and at school or work. Tiredness is very common and sometimes can be extreme. Sleeping during the day increases with age and sleep at night is often poor. Muscle weakness is very variable and can range from mild to severe. It particularly involves the face and eyelids, jaw, neck, forearms and hands, lower legs and feet. It can affect speech and give lack of facial expression. Handwriting may start well but become a scrawl after a few lines. Myotonia is a difficulty in relaxing a muscle after it has been contracted, e.g. after gripping something, it might be difficult to let go.

43. Myotonic Dystrophy Care Card. myotonic dystrophy Care Card, version 10. The best management of myotonic dystrophy is difficult to assess because of the small number of patients compared http://www.gla.ac.uk/centres/muscle/dmcarecard.htm

Scottish Muscle Network Myotonic Dystrophy Care Card Myotonic Dystrophy Care Card, version 10. The best management of myotonic dystrophy is difficult to assess because of the small number of patients compared to common disorders such as heart attacks. At the Scottish Muscle Network meeting in September 2000 the Myotonic Dystrophy Support Group voiced concern that the majority of their members did not have access to specialist clinics and the concept of a patient held Care Card was discussed. The MDSG then sponsored a meeting, in London in December 2000, of a multi-disciplinary team of 33 UK experts in the management of neuromuscular disorders. After local trials, the Care Card was appraised at a UK national meeting sponsored by the Muscular Dystrophy Campaign in Cambridge in March 2001. The Care Card was further developed at the 99th European Neuro Muscular Centre “Workshop on the management of myotonic dystrophy” in the Netherlands in November, 2001. The objective of the Care Card is to improve the care of patients using existing health service resources. The Care Card can be carried in a patient's wallet or purse. It supplements the existing credit card sized Alert Card by including a list of the various ways in which myotonic dystrophy can affect your health. If a patient develops new symptoms, he or she (and their doctor) will be able to consult the Care Card to help decide whether the symptoms might be related to myotonic dystrophy. The reverse of the care card is a diary in which the patient can record the visits to each clinic they attend and note the dates of important monitoring tests such as ECG's (heart tracings) and eye tests.

44. Myotonic Dystrophy myotonic dystrophy is a progressive disease in which the muscles are weak and are myotonic dystrophy Making an Informed Choice About Genetic Testing. http://www.healthatoz.com/healthatoz/Atoz/ency/myotonic_dystrophy.jsp

45. Myotonic Dystrophy A threegeneration family affected with myotonic dystrophy. The degree of severity increases in each generation. The grandmother (right) is only slightly http://medgen.genetics.utah.edu/photographs/pages/myotonic_dystrophy.htm

Myotonic dystrophy view 666 KB version view 10 KB version A three-generation family affected with myotonic dystrophy. The degree of severity increases in each generation. The grandmother (right) is only slightly affected, but the mother (left) has a characteristic narrow face and somewhat limited facial expression. The baby is more severely affected and has the facial features of children with neonatal-onset myotonic dystrophy, including an open, triangular-shaped mouth. The infant has more than 1000 copies of the trinucleotide repeat, whereas the mother and grandmother each have approximately 100 repeats. Examinations Photographs Movies Links ... noJava Home

46. Myotonic Dystrophy - Areas Of Research - MRDDRC myotonic dystrophy. Symptoms and genetic basis. myotonic dystrophy is a If, in myotonic dystrophy, the CUGBP protein remains trapped in the cell http://mrrc.pedi.bcm.tmc.edu/research areas/myotonicdystrophy.html

Myotonic dystrophy Symptoms and genetic basis: Myotonic dystrophy is a disorder that affects multiple body systems. It is characterized by progressive muscle weakness, cardiomyopathy and arrhythmias, cataracts, and abnormalities in brain and endocrine function, including mental retardation. There is a wide variation in the severity of symptoms between patients, although the condition is generally more severe and/or appears at an earlier age in later generations of a family that is affected. If a DNA-copying error during the production of eggs or sperm causes the CTG trinucleotide repeat region to become larger, then the region becomes more unstable and further errors are likely. This explains progressive expansion of the region through subsequent generations of a family. Larger expansions result in more severe clinical symptoms. Ongoing research at the Baylor College of Medicine Mental Retardation Developmental Disabilities Research Center: Further understanding of the disease The CUG-BP protein that cuts and splices messenger RNA is one of a family of six "CELF" proteins that have similar functions. Investigators are studying the entire family of CELF proteins to determine where and when they are expressed, how they are activated by the presence of excessive CUG trinucleotide repeats, and what genes are affected by CELF proteins that might be directly related to the occurrence of myotonic dystrophy symptoms. Laboratory-grown cells and genetically altered mice that produce RNA with expanded CUG regions are being established, which will provide useful biological systems for study of the effects of trinucleotide repeat expansion.

47. Myotonic Dystrophy myotonic dystrophy (Dystrophia myotonica, DM) is an autosomal dominant disorder Over 98% of cases with classical myotonic dystrophy are caused by an http://www.cmgs.org/BPG/Guidelines/2nd_ed/myotonic_dystrophy.htm

Workshop 1994 Guidelines prepared by Gareth Cross. First draft: 23 rd July IMPORTANT NOTICE: THESE GUIDELINES ARE AT A DRAFT STAGE. THEY ARE POSTED HERE FOR COMMENTS, CORRECTIONS AND AMENDMENTS, AND SHOULD NOT BE USED TO GUIDE LABORATORY PRACTICE UNTIL FORMALLY PUBLISHED. NOMENCLATURE AND GENE ID Locus DM Gene DMPK OMIM No. GeneCard DM UniGene Hs.898 DESCRIPTION OF THE DISEASE Myotonic Dystrophy (Dystrophia myotonica, DM) is an autosomal dominant disorder characterized by myotonia (often detected as a difficulty in relaxing clenched hands or a hand shake), muscular dystrophy, cataracts, testicular atrophy, frontal balding, and cardiac conduction defects. Most commonly, people present in adult life with slowly progressive weakness and myotonia. One of the features of the disease is "anticipation", a tendency to increase in severity in successive generations. The severest form is congenital, where babies present at birth with hypotonia, talipes and respiratory distress which can prove life-threatening. Congenital cases which survive tend to have delayed motor development and 60-70% have mental retardation. The overall incidence is approximately 1 in 8,000 (

48. Myotonic Dystrophy myotonic dystrophy (Dystrophia myotonica, DM) is caused in the vast majority Molecular basis of myotonic dystrophy expansion of a trinucleotide (CTG) http://www.cmgs.org/BPG/Guidelines/1st_ed/dm.htm

Myotonic Dystrophy ( Dystrophia myotonica , DM) is caused in the vast majority of cases by expansions at a (CTG)n repeat sequence in the 3' untranslated region of the DM protein kinase (DMPK) gene1, 2. The effect of this expansion on gene expression remains contentious3-8. The basis of the most commonly used diagnostic test is sizing of the repeat array by PCR and/or Southern blotting. The (CTG)n repeat is polymorphic in the normal range, with repeat numbers ranging from 3-37. Affected individuals usually have morerns. It was suggested that such samples benefit from immediate extraction upon receipt (rather than freezing) and/or transfer to an EDTA tube. It should also be noted that laboratories should not feel obliged to accept samples in inappropriate tubes, particularly if this is known or suspected to compromise the assay. PCR Analysis PCR in DM has not suffered from the problems associated with this technique in Fragile X syndrome. It is commonplace fves normal fragments of approximately 9kb or 10kb, as this fragment also contains the site of an insertion/deletion polymorphism. Because large (CTG)n repeats are in strong disequilibrium with the insertion form of this polymorphism, expansions are seen above the 10kb position, and only very rarely between the 9kb and 10kb positions. Expanded repeats are unstable at mitosis, and often present as a diffuse smear rather than as a single enlarged band. Several equivalent probes are used, particularly pM10M-61.

49. One Mystery Explained In Myotonic Dystrophy - From The Laboratories At Baylor Co Humans are believed to have approximately 30000 genes. However, there are at least 100000 proteins key to the proper functioning of cells in different parts http://www.bcm.edu/fromthelab/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.

50. Core Curriculum - POSNA Discuss the features of myotonic dystrophy which could necessitate myotonic dystrophy is an autosomal dominant disorder in which the defect has been http://www.posna.org/index?service=page/coreCurriculum&article=myotonicDystrophy

51. Information About Myotonic Dystrophy This site contains information about myotonic dystrophy. http://www.mamashealth.com/muscle/myotonic.asp

Mamashealth.com Home Muscle Injuries Achilles Tendonitis Back Pain Relief Back Surgery Back Pain Treatment ... Whiplash Links Email Mama What is Myotonic Dystrophy? Myotonic dystrophy is a rare, 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 is a multisystem disease. It affects various types of tissue and organs. Myotonic dystrophy can cause mental deficiency, hair loss and cataracts. Onset of Myotonic dystrophy usually occurs during young adulthood. However, it can occur at any age and is extremely variable in degree of severity. Which muscles are affected in Myotonic Dystrophy? In most cases, the first muscles to be affected are the muscles in the face, neck, hands, forearms, and feet. Symptoms of Myotonic Dystrophy? The most common symptoms of myotonic dystrophy are: Generalized weakness and muscle wasting first affecting the face, lower legs, forearms, hands and neck, with delayed relaxation of muscles after contraction common. Learning disabilities Difficulty swallowing Difficulty breathing Cataracts What Caues Myotonic Dystrophy?

52. Clinical Trial: Myotonic Dystrophy And Facioscapulohumeral Muscular Dystrophy Re myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited Official Title National Registry of myotonic dystrophy and http://www.clinicaltrials.gov/ct/gui/show/NCT00082108

Home Search Browse Resources ... About Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry This study is currently recruiting patients. Verified by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) March 2005 Sponsors and Collaborators: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) National Institute of Neurological Disorders and Stroke (NINDS) Information provided by: National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) ClinicalTrials.gov Identifier: Purpose Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose of this registry is to connect people with DM or FSHD with researchers studying these diseases. Condition Myotonic Dystrophy Muscular Dystrophy, Facioscapulohumeral Muscular Dystrophy MedlinePlus related topics: Degenerative Nerve Diseases Genetic Disorders Muscle Disorders Muscular Dystrophy ... Genetics Home Reference related topics: myotonic dystrophy Study Type: Observational Study Design: Screening, Longitudinal, Defined Population, Prospective Study

53. Myotonic Dystrophy - Definition Of Myotonic Dystrophy By The Free Online Diction Definition of myotonic dystrophy in the Online Dictionary. Meaning of myotonic dystrophy. What does myotonic dystrophy mean? myotonic dystrophy synonyms, http://www.thefreedictionary.com/myotonic dystrophy

Domain='thefreedictionary.com' word='myotonic dystrophy' Your help is needed: American Red Cross The Salvation Army join mailing list webmaster tools Word (phrase): Word Starts with Ends with Definition subscription: Dictionary/ thesaurus Computing dictionary Medical dictionary Legal dictionary Financial dictionary Acronyms Columbia encyclopedia Wikipedia encyclopedia Hutchinson encyclopedia myotonic dystrophy Also found in: Medical Wikipedia 0.03 sec. Page tools Printer friendly Cite / link Email Feedback Thesaurus Legend: Synonyms Related Words Antonyms Noun myotonic dystrophy - a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant myotonia atrophica myotonic muscular dystrophy Steinert's disease dystrophy ... muscular dystrophy - any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles Mentioned in References in classic literature No references found No references found Dictionary/thesaurus browser Full browser myotome Myotomic myotomy myotonia ... myotonic myotonic dystrophy myotonic muscular dystrophy Myra Myrcia Myrciaria ... myotonic myotonic dystrophy myotonic muscular dystrophy myotonic muscular dystrophy myotonic muscular dystrophy myotonoid ... Myozai District, Tokushima

54. Complete Myotonic Dystrophy Evaluation Cardiac complications; Developmental delay; Mental retardation; Muscle wasting; Myotonia; Ptosis; http://www.athenadiagnostics.com/site/product_search/test_description_template.a

55. Sudden Cardiac Death In Myotonic Dystrophy Type 2 -- Schoser Et Al. 63 (12): 240 Sudden cardiac death in myotonic dystrophy type 2. BGH Schoser, MD , K. Ricker, MD {dagger} , C. SchneiderGold, MD , C. Hengstenberg, MD , J. Dürre, http://www.neurology.org/cgi/content/abstract/63/12/2402

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Figures Only Full Text Full Text (PDF) ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Schoser, B. G.H. Articles by Ranum, L. P.W. Related Collections Muscle disease Cardiac All Genetics Trinucleotide repeat diseases NEUROLOGY 2004;63:2402-2404 American Academy of Neurology Brief Communications Sudden cardiac death in myotonic dystrophy type 2 B. G.H. Schoser, MD K. Ricker, MD C. Schneider-Gold, MD C. Hengstenberg, MD W. Kress, PhD J. W. Day, MD, PhD and L. P.W. Ranum, PhD Address correspondence and reprint requests to Dr. Benedikt G.H. Schoser, Friedrich Baur Institute, Department of Neurology, Ludwig Maximilians University Munich, Ziemssenstr. 1a, 80336 Munich, Germany; e-mail: Medical records and follow-up data were reviewed in 297 genetically proven myotonic dystrophy type 2 (DM2) patients. Patients were

56. Myotonic Dystrophy Type 2: Molecular, Diagnostic And Clinical Spectrum -- Day Et Background myotonic dystrophy types 1 (DM1) and 2 (DM2/proximal myotonic myopathy PROMM) Homozygosity for CCTG mutation in myotonic dystrophy type 2 http://www.neurology.org/cgi/content/abstract/60/4/657

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Figures Only Full Text Full Text (PDF) ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Day, J. W. Articles by Ranum, L. P.W. Related Collections All Neuromuscular Disease Muscle disease All Genetics Trinucleotide repeat diseases Neurology American Academy of Neurology Myotonic dystrophy type 2 Molecular, diagnostic and clinical spectrum J. W. Day, MD PhD K. Ricker, MD J. F. Jacobsen, BS L. J. Rasmussen, BA K. A. Dick, BA W. Kress, PhD C. Schneider, MD M. C. Koch, MD G. J. Beilman, MD A. R. Harrison, MD J. C. Dalton, MS and L. P.W. Ranum, PhD Address correspondence and reprint requests to Dr. John W. Day, Department of Neurology and Institute of Human Genetics, MMC 206, University of Minnesota School of Medicine, 420 Delaware St. SE, Minneapolis, MN 55455; e-mail: or to Dr. Laura P. W. Ranum, Department of Genetics, Cell Biology and Development, and Institute of Human Genetics, MMC 206, University of Minnesota School of Medicine, 420 Delaware St. SE, Minneapolis, MN 55455; e-mail: ranum001@umn.edu

57. Myotonic Dystrophy Definition - Medical Dictionary Definitions Of Popular Medica Online Medical Dictionary and glossary with medical definitions. http://www.medterms.com/script/main/art.asp?articlekey=4494

58. Elsevier.com - Myotonic Dystrophy, 37 myotonic dystrophy is one of the most variable of all human disorders. The Molecular and Cell Biology of myotonic dystrophy http://www.elsevier.com/wps/product/cws_home/694017

Home Site map Regional Sites Advanced Product Search ... Myotonic Dystrophy, 37 Book information Product description Audience Author information and services Ordering information Bibliographic and ordering information Book related information Submit your book proposal Other books in same subject area About Elsevier Select your view MYOTONIC DYSTROPHY, 37 Major Problems in Neurology To order this title, and for more information, go to http://www.elsevierhealth.com/title.cfm?ISBN=0702021520 Third Edition By Peter Harper , Professor of Medical Genetics, University of Wales College of Medicine; Consultant Physician and Consultant Medical Geneticist, University Hospital of Wales, Cardiff, UK Description Myotonic Dystrophy is one of the most variable of all human disorders. With age onset ranging from fetal life to old age, and with virtually all systems of the body affected in some way, it can present clinically to many types of specialist; not only the neurologist but also the cardiologist, ophthalmologists, gastroenterologist or endocrinologist. Audience Neurologists, paediatricians, physicians and clinical geneticists.

59. MYOTONIC DYSTROPHY myotonic dystrophy, which is also called DM or Steinert s disease, is the most common But, you may die sooner if you have very bad myotonic dystrophy. http://www.healthtouch.com/bin/EContent_HT/cnoteShowLfts.asp?fname=01625&title=M

60. Myotonic Dystrophy, Congenital Type NeuroLearn NeuroHelp Muscle Immunohistochemistry Differential Diagnosis myotonic dystrophy, Adult Type invariably show subclinical or overt features of myotonic dystrophy. http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNN0IE03.htm

Myotonic Dystrophy, Congenital Type NeuroLearn NeuroHelp Muscle Background ... Myotonic Dystrophy, Adult Type BACKGROUND AND CLINICAL INFORMATION Head Summary Clinical Features Summary Symptoms usually starts at birth and is characterized by neonatal distress with diffuse muscle hypotonia, breathing and swallowing difficulties, and facial diplegia with characteristic tenting of the upper lips. Patients have a characteristic facial diplegia with triangular-shaped "tented" mouth, and inability to close the eyes fully. Death from respiratory failure is high. Myotonia is not elicitable at birth and the diagnosis may be difficult to be made. Since most mothers are affected, examination of the mother is helpful in establishing the diagnosis. Histochemically, there is abnormal increase in acid phosphatase activity. Genetics: The molecular mechanism and the gene involved is the same as that of the adult type. These children are usually born to affected mother, rarely affected father. Muscle biopsy is not specific and not helpful diagnostically. It is more likely to be confusing rather than helpful. Diagnosis is best based on genetic, clinical, and EMG.

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