61. Myotonic Dystrophy Support Group \ Welcome to the discussion pages for the myotonic dystrophy Support Group Pleaseclick here to visit our web site Click here to find out how to talk http://www.nottingham.ac.uk/~pdzmgh/discus/messages/board-topics.html

Welcome to the discussion pages for the Myotonic Dystrophy Support Group Please click here to visit our web site Click on this link for help with using this discussion board General conversations Click on this topic to read messages posted by others, and to add replies or new messages. Meetings and events ANNUAL CONFERENCE of the MYOTONIC DYSTROPHY SUPPORT GROUP will be held on 12th and 13th April, 2003 in Glasgow. Click on this topic for more details and about other meetings Powered by DiscuAre s Are you a member of the Myotonic Dystrophy Support Group. ? If so would you like to know about being a Contact Person. Meeting Oct. 6th in Coventry. Contact Margaret, email on mdsg@tesco.net

62. Myotonic Dystrophy Support Group Welcome to myotonic dystrophy Support Group. Therefore, navigation of myotonic dystrophySupport Group will not be aided by having a menu present at all times. http://www.nottingham.ac.uk/~plzmh/discus/

Welcome to Myotonic Dystrophy Support Group Your browser does not support Frames. Therefore, navigation of Myotonic Dystrophy Support Group will not be aided by having a menu present at all times. The following is the menu made available to those with a frame-compatible browser: Top (Index) Instructions Formatting Troubleshooting ... User Profile Administration (Requires Frames) Click Here to Start

63. Essential Baby Forum - Posted By, Discussion Topic Late Onset myotonic dystrophy!? http://www.essentialbaby.com.au/CFForum/viewmessages.cfm?Forum=96&Topic=4823

64. NEJM -- Sign In Original Article from The New England Journal of Medicine Direct Diagnosis ofmyotonic dystrophy with a DiseaseSpecific DNA Marker. myotonic dystrophy. http://content.nejm.org/cgi/content/full/328/7/471

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP The full text of the Journal is available online for all subscribers to the print version. For Original Articles and Special Articles, six months after publication the full text becomes available to all registered users. Registered Users User Name Password Remember my user name and password. Forgotten the password? If you do not use cookies sign in here If you have purchased access to an article or the Journal website, you may regain access here First-Time Users If you are a Journal subscriber using the Journal On-line for the first time, you must register and choose a password. If you are not a Journal subscriber subscribe here If you would like full access to the Journal Web site for 24 hours for $29, click here To regain access to Journal Web site, click here If you would like full access to this article for $10, click here To regain access to a purchased article, click here If you would like free full access to all Original Articles and Special Articles beginning six months after publication register here If you cannot get past this page

65. A To Z Encyclopedia Topic: Autosomal Dominant: Myotonic Dystrophy Genetics Program. Autosomal Dominant myotonic dystrophy. Genes are inheritedfrom our biological parents in specific ways. What is myotonic dystrophy? http://web1.tch.harvard.edu/cfapps/A2ZtopicDisplay.cfm?Topic=Autosomal Dominant:

66. Remifentanyl In Myotonic Dystrophy Remifentanil in myotonic dystrophy – Avoiding the Use of Muscle Relaxantsand Long Acting Opioids. Dr. Karen Grimsehl, MBChB, FRCA http://www.uam.es/departamentos/medicina/anesnet/journals/ija/vol4n2/remi.htm

Dr. Karen Grimsehl, MBChB, FRCA Specialist Registrar in Anesthetics Tayside University Hospital Dr.Edward Wilson, MBChB, FFARCSI Consultant in Anesthetics and Intensive Care Tayside University Hospitals The correct citation of this article for reference is: http://www.ispub.com/journals/IJA/Vol4N1/remi.htm ; Published April 1, 2000; Last Updated April 1, 2000. (Please add the "Date accessed") Quick Links Abstract Introduction Case Report Discussion ... References Abstract Myotonic dystrophy, a genetic disorder of abnormal musle function, is associated with many anesthetic hazards. Sensitivity to anesthetic drugs, especially muscle relaxants and opioids, may complicate postoperative care. A period of postoperative ventilation to allow opioids and sedatives to wear off may be required. The use of succinylcholine is contra-indicated because of profound muscle contraction which can make ventilation impossible. Non-depolarising agents can also give unpredictable responses, ranging from decreased sensitivity to exaggerated response. We describe a case where the use of remifentanil allowed ventilation of a patient with myotonic dystrophy for more than 2 hours and avoided the use of muscle relaxants and longer acting opioids. The short context-sensitive half-time of remifentanil allowed immediate recovery and safe discharge home on the same day. Key words: remifentanil, myotonia, myotonic dystrophy, anesthesia

67. Myotonic Dystrophy Self Help And Support Groups myotonic dystrophy Support Group. The myotonic dystrophy Group isa self help group willing to provide information and support to http://www.webhealth.co.uk/Self_Help_and_Support_Groups_R/Myotonic_Dystrophy_Sel

Myotonic Dystrophy Support Group The Myotonic Dystrophy Group is a self help group willing to provide information and support to families affected by the neuro muscular condition, Myotonic Dystrophy Charity no. 1073211 175a Carlton Hill Nottingham Tel: 0115 9870080 Fax: 0115 987 6462 Email: comcom.org/mdfg

68. UCHSC DNA Diagnostic Laboratory-Myotonic Dystrophy UCHSC DNA Diagnostic Laboratory DNA Analysis for myotonic dystrophy General InformationThe direct mutation analysis detects the most common myotonic http://www.uchsc.edu/sm/peds/dnalab/dm.htm

UCHSC DNA Diagnostic Laboratory DNA Analysis for Myotonic Dystrophy General Information: The direct mutation analysis detects the most common myotonic dystrophy mutation which accounts for 98% of all myotonic dystrophy mutations. Methodology: This test includes preparation of DNA from peripheral blood, direct or cultured cells from amniotic fluid or chorionic villus sampling, in addition to southern blot and/or PCR based analysis for the myotonic dystrophy mutation. PCR is performed pursuant to a license agreement with Roche Molecular Systems, Inc. Uses: Prenatal diagnosis of myotonic dystrophy, diagnosis of myotonic dystrophy, identification of presymptomatic and nonpenetrant individuals. Indications: Positive family history of myotonic dystrophy, unresolved diagnosis suggestive of myotonic dystrophy based on clinical or laboratory findings, neonatal presentation consistent with congenital myotonic dystrophy. Specimen Requirements: Please see instructions for shipping and handling specimens Turnaround Time: 2-4 weeks (time required for culture of tissue specimens not included.) Cases are prioritized on an individual basis.

69. GGRC - Medical Care Information myotonic dystrophy Phillips, MF and PS Harper. 1997. Cardiac Disease in MyotonicDystrophy. Cardiovascular Research 33 (1) 1322. Ptacek, Louis M, et al. http://www.ddhealthinfo.org/ggrc/doc2.asp?ParentID=3181

70. Myotonic Dystrophy | Vhihealthe myotonic dystrophy. A rare form of DM, congenital myotonic dystrophy,may appear in newborns of mothers who have DM. Congenital http://www2.vhihealthe.com/topic/topic100587192

You are here: Home Health A to Z Myotonic Dystrophy Robinson, Richard Below: 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.

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

72. Myotonic Dystrophy myotonic dystrophy. myotonic dystrophy is a progressive disease that keeps affectedmuscles from relaxing once they have been contracted or tightened. http://www.chclibrary.org/micromed/00057650.html

Main Search Index Definition Description Causes ... Resources Myotonic dystrophy Definition Myotonic dystrophy is a progressive disease that keeps affected muscles from relaxing once they have been contracted or tightened. Description Myotonic dystrophy (DM), also called dystrophia myotonica, myotonia atrophica, or Steinert's disease, is a common form of muscular dystrophy . It affects more than 30,000 people in the United States. DM is an inherited disease, affecting men and women approximately equally. Symptoms may appear at any time from childhood 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 rare form of DM, congenital myotonic dystrophy, may appear in newborns of mothers who have DM. Congenital myotonic dystrophy is marked by severe weakness, poor sucking and swallowing responses, respiratory difficulty, delayed motor development, and mental retardation Causes Myotonic dystrophy is caused by an inherited gene defect, called a "triple repeat," on chromosome 19. The defective gene has not been positively identified as of early 1998. The triple repeat probably affects neighboring genes as well. Involvement of more than one gene would explain the multisystem effects of DM. The gene is inherited in an autosomal dominant pattern. In this pattern, one copy of the gene inherited from an affected parent is enough to cause the disease in the offspring. The chance of inheriting the DM gene from an affected parent is 50% for each child. This percentage is not changed by results of other pregnancies.

73. Myotonic Dystrophy myotonic dystrophy without Expansion. We are seeking blood samplesfrom patients with a myotonic dystrophy phenotype who do not have http://www.waisman.wisc.edu/child-neuro/seekpt-f/myotonic.html

Myotonic Dystrophy without Expansion We are seeking blood samples from patients with a myotonic dystrophy phenotype who do not have an expanded triplet repeat for a genetic study of the sodium channel subunits. Chris Grosson email: grosson@helix.mgh.harvard.edu phone: (617)726-5725 FAX: (617) 726-5736 Go back to Child-Neuro Homepage Go back to Clinical Studies Seeking Patients page Last updated 05 October 1999

74. MYOTONIC DYSTROPHY Features Listed For myotonic dystrophy. McKusick 160900. Cataract;Club foot/hindfoot, varus; Coloboma of retina/choroid; Conjunctivitis; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1192

75. NOBEL TIP Yabancý Kitaplar. myotonic dystrophy, Yazar, Harper. Microneurosurgery Vol IIIA,Microneurosurgery Vol I. Microneurosurgery Vol IIIB, myotonic dystrophy. http://www.nobeltip.com/nobeltip.cfm?fuseaction=kitap.detay&ID=1248

76. Myotonic Dystrophy BACK TO FACT SHEETS INDEX. myotonic dystrophy. This fact sheet dealsonly with myotonic dystrophy (MYDY). The Muscular Dystrophy http://www.mdansw.org/MD.htm

BACK TO FACT SHEETS INDEX MYOTONIC DYSTROPHY Is the myotonia a serious problem? Which muscles are affected in Myotonic Dystrophy? Why is Myotonic Dystrophy called 'multisystemic'? What is the age of onset? ... The Muscular Dystrophy Association's Purpose and Programme What is Muscular Dystrophy? There are a number of different types of Muscular Dystrophy. They are muscle diseases which have three features in common: they are hereditary, they are progressive; and each causes a characteristic, selective pattern of muscle wasting and weakness. This fact sheet deals only with Myotonic Dystrophy (MYDY). :The Muscular Dystrophy Association deals with a wide variety of disorders which affect muscles, nerves which control muscles and the interactions between the two. Please contact the Association for further information. Back to Top What is Myotonic Dystrophy? MYDY is the most common adult form of Muscular Dystrophy. MYDY is caused by a defective gene. Unlike any of the other Muscular Dystrophies, the muscle weakness is accompanied by myotonia (delayed relaxation of muscles after contraction) and by a variety of abnormalities in addition to those of muscle. The disorder is also known as Steinert's Disease and Dystrophia Myotonica. Is the myotonia a serious problem?

77. NeuroCAST - Diagnosis And Management Of Myotonic Dystrophy myotonic dystrophy (DM) is the most common muscular dystrophy in adults, and isthe second most common muscular dystrophy after Duchenne muscular dystrophy. http://www.neurocast.com/site/content/sessions_05_2002.asp

Muscle groups affected in myotonic dystrophy The genetic causes of three forms of DM have been identified: , also known as Steinert's disease , also known as proximal myotonic myopathy (PROMM) Congenital myotonic dystrophy (CMyD) DM1 and DM2 have similar clinical presentations, however, DM2 may present with milder symptoms. Both DM1 and DM2 are equally prevalent. CMyD is the most serious form of DM. Affected infants typically have severe muscle weakness, hypotonia and difficulties with breathing, sucking and swallowing. Intensive clinical intervention is necessary to improve the chance of survival of such children. CMyD and early onset DM1 are attributable to the phenomenon of anticipation. The abnormal repeat expansion that has been identified as the cause of DM1 can lengthen in successive generations, which lowers the age of onset and increases symptom severity. All three forms of DM are caused by an abnormal nucleotide repeat expansion. In DM1 and CMyD, the expansion is in a non-coding region of the DMPK (Dystrophia-myotonica protein kinase) gene on chromosome 19. In DM2, the expansion is in a non-coding region of the ZNF9 (zinc finger protein 9) gene on chromosome 3.

78. OUP: Myotonic Dystrophy: Harper myotonic dystrophy The Facts. Peter S Harper, Department myotonic dystrophyis part of the group of muscular dystrophies. This book, the first http://www.oup.co.uk/isbn/0-19-852586-9

VIEW BASKET Quick Links About OUP Career Opportunities Contacts Need help? oup.com Search the Catalogue Site Index American National Biography Booksellers' Information Service Children's Fiction and Poetry Children's Reference Dictionaries Dictionary of National Biography Digital Reference English Language Teaching Higher Education Textbooks Humanities International Education Unit Journals Law Medicine Music Oxford English Dictionary Reference Rights and Permissions Science School Books Social Sciences World's Classics UK and Europe Book Catalogue Help with online ordering How to order Postage Returns policy ... Table of contents Myotonic Dystrophy - The Facts Peter S Harper , Department of Medical Genetics, University of Wales College of Medicine Publication date: 27 June 2002 126 pages, 2 figures and numerous tables, 196mm x 129mm Series: The Facts Search for titles in the same series Ordering Individual customers order by phone, post, or fax Teachers in UK and European schools (and FE colleges in the UK): order by phone, post, or fax A sample of this book is available in PDF format. The first ever popular book on the commonest inherited muscular dystrophy Written clearly and simply for those with no medical expertise Provides essential information on genetic testing, and how to make the difficult decisions.

79. Arch Neurol -- Page Not Found Arch Neurol. 55;291293, March 1998, myotonic dystrophy as a Brain Disorder,Tetsuo Ashizawa, MD. REFERENCES. 1. Harper PS. myotonic dystrophy. http://archneur.ama-assn.org/issues/v55n3/ffull/ned7520.html

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80. Medical Genetics - Autosomal Dominant: Myotonic Dystrophy Autosomal Dominant myotonic dystrophy Genes are inherited from ourbiological parents in specific ways. What is myotonic dystrophy? http://www.chkd.org/Genetics/autosom.asp

More Health Information Adolescent Medicine Allergy/Immunology Anesthesiology Arthritis Burns Cardiology Craniofacial Dental Medicine Dermatology Developmental Peds Diabetes Digestive Ear, Nose, Throat Genetics Gastroenterology Growth Hematology High Risk Newborn High Risk Pregnancy Infectious Disease Mental Health Neonatology Nephrology Neurology Normal Newborn Normal Pregnancy Oncology Ophthalmalogy Orthopaedics Otolaryngology Pediatric Intensive Care Pediatric Surgery Pediatrics Physical Medicine Plastic Surgery Respiratory/Pulmonology Rheumatology Safety Surgery Terminal Transplant Urology Site Search For a doctor who specializes in this topic, click here. 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.

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