61. Myotonic Dystrophy, Adult Type NeuroLearn NeuroHelp Muscle Summary myotonic dystrophy (dystrophia myotonica or Steinert s disease) is the commonest myotonic dystrophy is a systemic disorder but the muscular http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNN0IE02.htm

Myotonic Dystrophy, Adult Type NeuroLearn NeuroHelp Muscle Background ... Myotonic Dystrophy, Congenital Type BACKGROUND AND CLINICAL INFORMATION Head Summary Genetics Diagnostic Test ... Anaesthetic Risk Summary Myotonic dystrophy (dystrophia myotonica or Steinert's disease) is the commonest adult form of muscular dystrophy, incidence is about 50 per 1,000,000 population). It is a trinucleotide-repeat disease transmitted by an autosomal dominant mechanism with a high level of penetrance. Myotonic dystrophy is a systemic disorder but the muscular symptomatology is most characteristic. The typical picture is slow relaxation of muscles in the hands, forearm, tngue and facial muscles. Patients also have various kinds of endocrine and systemic abnormalities. The onset of adult type is usually in adolescence or early adulthood. There are no specific pathologic changes but atrophy of type 1 fibers, ring fibers and chains of centrally located nuclei are usually seen. Myotonia is characterized by the persistence of a strong contraction of muscle after stimulation has ceased. The contraction can be initiated volunatrily, mechanically, or electrically. Genetics The etiology is due to abnormally large CTG repeats in the untranslated region of the myotonic dystrophy gene (coding for myotonin protein kinase) on chromosome 19q3.3. In contrast to the congenital form, this is more often inherited from the father.

62. Disease - Myotonic Muscular Dystrophy (MMD) SearchTerm, myotonic dystrophy type 1, Dystrophia myotonica (DM), myotonic dystrophy type 2 (DM2, PROMM) is less frequently encountered and results from http://disability.ucdavis.edu/resources/diseases/list/disease.asp?id=8

63. Dystrophy, Myotonic myotonic dystrophy (DM) is an inherited disorder involving the muscles, vision, and endocrine glands. It may also cause mental deficiency and loss of hair. http://www.bchealthguide.org/kbase/nord/nord357.htm

var hwPrint=1;var hwDocHWID="nord357";var hwDocTitle="Dystrophy, Myotonic";var hwRank="1";var hwSectionHWID="nord357-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. Dystrophy, Myotonic Important It is possible that the main title of the report Dystrophy, Myotonic is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Curschmann-Batten-Steinert Syndrome DM Myotonia Atrophica Steinert Disease Dystrophia Myotonia Disorder Subdivisions Myotonic Dystrophy type 1 (DM1) Myotonic Dystrophy type 2 (DM2) General Discussion Myotonic Dystrophy (DM) is an inherited disorder involving the muscles, vision, and endocrine glands. It may also cause mental deficiency and loss of hair. The more obvious features of the disorder are muscle rigidity and the inability to relax a muscle or set of muscles after contraction. Onset of this rare disorder usually occurs during early adulthood. However, it may occur at any age and is extremely variable in degree of severity. There appear to be at least two forms of this disorder. The more commonly encountered is called Myotonic Dystrophy type 1 (DM1) and results from a fault on chromosome 19. The second and less frequently encountered form is called Myotonic Dystrophy type 2 (DM2). DM2 is the consequence of one or more defects on chromosome 3.

64. Psychostimulants For Hypersomnia (excessive Daytime Sleepiness) In Myotonic Dyst Excessive daytime sleepiness is a common symptom of myotonic dystrophy. are drugs increasingly used to treat hypersomnia in myotonic dystrophy. http://www.cochrane.org/cochrane/revabstr/AB003218.htm

From The Cochrane Library, Issue 2, 2005 Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy (Cochrane Review) Annane D, Miller R, Barnes P ABSTRACT What's new in this issue Search abstracts Browse alphabetical list of titles Browse by Review Group A substantive amendment to this systematic review was last made on 14 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.

65. MyDNA.com - Myotonic Dystrophy myDNA is a consumer focused health, genetics, and genomics information provider offering disease condition information, health wellness tips, http://www.mydna.com/genes/genetics/disorders/disease/muscle/md.html

@import url(http://www.mydna.com/plone.css); @import url(http://www.mydna.com/ploneCustom.css); myDNA.com Search Yellow Pages News ... Diets Search For In Entire Site Articles News Images Advanced Search Home Genetics Center ... Muscle and Bone Myotonic Dystrophy Page Tools Print This Page E-Mail This Page Add to Favorites Genetics Genetics News Ask Dr. DNA Top Tens Genetics 101 Genetic Testing Genetic Disorders Genes and Disease Blood Diseases Cancer Digestive System Ear, Nose and Throat Female-Specific Disease Glands and Hormones Heart and Blood Vessels Immune System Male Specific Disease Muscle and Bone Neonatal Diseases Nervous System Nutritional and Metabolic Respiratory Diseases Skin, Connective Tissue

66. Myotonic Muscular Dystrophy (Steinert's Disease) myotonic dystrophy, also known as Steinert s disease, is the most common form of muscle Affected babies are born to mothers who have myotonic dystrophy. http://www.muscle.ca/content/index.php?id=995

67. THE MERCK MANUAL OF GERIATRICS, Ch. 54, Muscular Disorders myotonic dystrophy. An autosomal dominant multisystem disorder caused by an Usually, myotonic dystrophy characterized by distal weakness develops in http://www.merck.com/mrkshared/mmg/sec7/ch54/ch54l.jsp

68. Congenital Myotonic Dystrophy: Assisted Ventilation Duration And Outcome -- Camp Key Words congenital myotonic dystrophy • ventilation • mortality • development • prognosis. Abbreviations CDM, congenital myotonic dystrophy • CPAP, http://pediatrics.aappublications.org/cgi/content/abstract/113/4/811

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) P ... Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Download to citation manager PubMed PubMed Citation Articles by Campbell, C. Articles by Blayney, M. Related Collections PEDIATRICS Vol. 113 No. 4 April 2004, pp. 811-816 Congenital Myotonic Dystrophy: Assisted Ventilation Duration and Outcome Objective. To clarify the relationship between initial assisted ventilation duration and outcome for patients with congenital myotonic dystrophy (CDM). Methods. A retrospective chart review was conducted of cases Ontario (Ottawa, Ontario, Canada) between 1980 and 2000. Inclusion criteria were conclusive testing for CDM and clinical presentation in the first 30 days of life. Duration of assisted ventilation, morbidity, mortality, and developmental outcome were measured. Results.

69. Autosomal Dominant: Myotonic Dystrophy - Lucile Packard Children's Hospital An example of an autosomal dominant condition is myotonic dystrophy. myotonic dystrophy is an inherited disorder that causes muscle weakness and myotonia http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/genetics/autosom.html

Genetics Clinic Metabolic/Biochemical Genetics Clinic Medical Geneticists Medical Genetics ... Packard Children’s Hospital Pediatrician Receives E. Mead Johnson Award For Pediatric Research 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?

70. Neuromuscular Disease Project - Boston Childen's Hospital - Harvard Medical Scho Myotonic Muscular Dystrophy, also known as dystrophia myotonica or myotonia atrophica, There is another type of MMD called myotonic dystrophy Type 2. http://www.chb-genomics.org/healthcare-myotonic.php

Home Overview Links News ... OUR INVESTIGATORS Healthcare Provider Info DMD OMIM BMD OMIM ... Link to Diagnostic Text Book Chapters Enroll a Patient Many families are interested in supporting our research. Click here to find out how you can help. Need Assistance? Contact our on-staff research genetic counselor Investigators Louis Kunkel, PhD Robert Brown, MD Alan Beggs, PhD Emanuela Gussoni, PhD ... Isaac Kohane, MD, PhD Myotonic Muscular Dystrophy (MMD) Inheritance: Autosomal Dominant Genetic Alteration: Dystrophia Myotonica Protein Kinase Gene (DMPK) on Chromosome 19: CTG trinucleotide repeat Incidence: 1 in 20,000 people are affected Onset: congenital through adulthood Muscles Affected: Voluntary (distal) muscles of limbs and the neck, facial, and diaphragm muscles,intercostal muscles, possibly the cardiac muscle, birthing muscles. Other Symptoms: cataracts, diabetes, complications with anesthesia, potential for mental retardation

71. Myotonic Dystrophy -- Facts, Info, And Encyclopedia Article myotonic dystrophy is a (Click link for more info and facts about chronic) chronic, slowly progressing, inherited (An impairment of health or a condition of http://www.absoluteastronomy.com/encyclopedia/m/my/myotonic_dystrophy.htm

Myotonic dystrophy Myotonic dystrophy is a (Click link for more info and facts about chronic) chronic , slowly progressing, inherited (An impairment of health or a condition of abnormal functioning) disease that usually manifests itself when individuals reach their 30s. It is characterized by a wasting of the muscles, failing vision, opacity of the lens of the eyes, (Drooping of the upper eyelid caused by muscle paralysis and weakness) ptosis , slurred speech, and general muscular weakness. Also called myotonia atrophica, Steinert's disease. PrintFooter('Myotonic_dystrophy') Arts Business Health Sports ... Random

72. Dropped Head Presentation In Myotonic Dystrophy Type 1 Grewal RP Neurol India Neurol India is an peerreviewed biomedical periodical of Neurological Society of India. http://www.neurologyindia.com/article.asp?issn=0028-3886;year=2005;volume=53;iss

73. Polyglandular Endocrinopathy In Myotonic Dystrophy : Letter To Editor. Zargar AH Neurol India is an peerreviewed biomedical periodical of Neurological Society of India. http://www.neurologyindia.com/article.asp?issn=0028-3886;year=2002;volume=50;iss

74. CPS: CPSP Congenital Myotonic Dystrophy Quality information on children s health and wellbeing, such as vaccination, pregnancy, infant care, healthy eating, common illnesses, safety, http://www.cps.ca/english/CPSP/Studies/CMD.htm

Congenital myotonic dystrophy Principal investigator Craig Campbell, MD, Neurology Section, Department of Paediatrics, University of Western Ontario, 800 Commissioners Rd E, Room 6121, London ON N6C 2B5; tel.: (519) 685-8332; fax: (519) 685-8350; e-mail: craig.campbell@lhsc.on.ca Co-investigators Pierre Jacob, MD, Neurology Section, Department of Paediatrics, University of Ottawa Simon Levin, MD, Neurology Section, Department of Paediatrics, University of Western Ontario Victoria Siu, MD, Genetics Section, University of Western Ontario Shannon Venance, MD, Neurology Section, University of Western Ontario Background Myotonic dystrophy is an autosomal dominant multisystem disorder characterized by muscle weakness and myotonia commonly beginning in early adulthood. The two loci for the disease are described as DM1 (Steinert’s disease) and DM2. In DM1, a CTG trinucleotide expansion is on chromosome 19q13.3, while in DM2, a CCTG tetranucleotide expansion is on 3q21. Although the disruptions of these genes, the DMPK and ZNF9 proteins respectively, may contribute to the symptomatology, the primary pathogenesis is felt to be related to the effect of large accumulations of nuclear mutant mRNA. In DM1, a phenomenon of ‘genetic anticipation’ can occur with a more severe clinical phenotype and earlier age of onset appearing over subsequent generations, as the unstable trinucleotide repeat carried by the parent, almost always the mother, can expand further through gametogenesis. This leads eventually to an infant with congenital myotonic dystrophy (CMD), who is often the index case establishing the CMD diagnosis in the mother and serving as a focal point for genetic testing for the family. The incidence of CMD is estimated at 0.08 per 1,000 live births but there are no published population-based incidence studies. Risks associated with CMD include polyhydramnios, premature delivery, labour and delivery complications, and need for neonatal resuscitation.

75. Autosomal Dominant: Myotonic Dystrophy - Mountain View Bay Area Sunnyvale Cupert Autosomal Dominant myotonic dystrophy El Camino Hospital is located in the heart of Silicon Valley at Mountain View, California ,serving Mountain View http://www.elcaminohospital.org/12343.cfm

@import url(default.css); @import url(module.css); Home Hospital News Find A Doctor Health Information A-Z ... Back to Search 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: Click Image to Enlarge 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?

76. Myotonic Dystrophy - Information & News The United States Department of Energy (DOE) Joint Genome Institute (JGI) and Stanford University report today the completion of the sequencing of human http://www.news-medical.net/?keyword=Myotonic dystrophy

77. Myotonic Dystrophy myotonic dystrophy is an autosomal dominant multisystem disorder with an incidence of 1 in 8000 in most European populations. The clinical picture in DM is http://leedsdna.info/tests/DM1.htm

Last update: Disease Names/Indications Gene(s) OMIM(s) Contact Myotonic dystrophy 1 Dystrophia myotonica 1 DMPK DMAHP, 59 David Cockburn Brief Description Genotyping for CTG trinucleotide repeat by standard PCR and triplet repeat primed PCR (TP PCR). PCR amplification across the CTG repeat is carried out to estimate the size of alleles in the normal/low expanded range (up to about 80 repeats). TP PCR enables the rapid identification of large pathogenetic CTG repeats. Level 2 Southern blotting analysis is only performed in a minority of cases. Accelerated reporting times by prior request. Reporting time *WLU per case Level 1 (CTG)n PCR 2-4 weeks TP PCR 2-4 weeks Level 2 Southern blotting 8 weeks * WLUs do not include cost of DNA extraction (32-48 WLU) or report writing. Myotonic dystrophy 1 Introduction Myotonic dystrophy is an autosomal dominant multisystem disorder with an incidence of 1 in 8000 in most European populations. The clinical picture in DM is well established but exceptionally variable. DM patients are clinically classified into three groups depending on age of onset and disease severity. These are minimally affected or late onset, classical adult onset, and severe congenital onset. In the mildest cases the only symptoms may be characteristic bilateral cataracts, whilst in the most severely affected congenital cases, babies are born with severe hypotonia and mental retardation. Congenitally affected infants who survive the neonatal period subsequently develop the classical symptoms of DM, which include

78. Project: Molecular Cell Biology Of Myotonic Dystrophy: Protein-chemical Typing, Abstract, myotonic dystrophy CurschmannSteinert (DM) is the most frequent autosomal dominant muscle disease known. The DM area is located on chromosome 19. http://www.onderzoekinformatie.nl/en/oi/nod/onderzoek/OND1263559/toon

Login English KNAW Research Information NOD - Dutch Research Database ... Research entire www.onderzoekinformatie.nl site fuzzy match Project: Molecular cell biology of myotonic dystrophy: protein-chemical typing, abnormal protein phosphorylation and ion-homeostasis, and pathobiological studies Print View Titel Moleculair-celbiologisch onderzoek aan dystrophia myotonica: eiwitchemische typering, ontregeling van eiwitfosforylering en ionhomeostase. pathologische studies Abstract Myotonic dystrophy Curschmann-Steinert (DM) is the most frequent autosomal dominant muscle disease known. The DM area is located on chromosome 19. This project aims at the characterisiation of the molecular defect at the protein level study of the role of myotonic dystrophy kinase (DM-PK) in ion-homeostasis and protein phosphorylation cascades in muscle in vivo and cultured myotubes in vitro. Period Dissertation Yes Related organisations Secretariat: Department of Cell Biology (KUN) Related persons Project leader: Prof.dr. B. Wieringa

79. Project: A Disturbed Subcellular Distribution Of Myotonic Dystrophy: Protein Kin Project A disturbed subcellular distribution of myotonic dystrophy protein kinase isoforms as cause of myotonic dystrophy http://www.onderzoekinformatie.nl/en/oi/nod/onderzoek/OND1295746/toon

Login English KNAW Research Information NOD - Dutch Research Database ... Research entire www.onderzoekinformatie.nl site fuzzy match Project: A disturbed subcellular distribution of myotonic dystrophy: protein kinase isoforms as cause of myotonic dystrophy Print View Titel Een verstoorde subcellulaire verdeling van myotone dystrofie: prote¯ne kinase isovormen als oorzaak van myotone dystrofie Abstract Period Status completed Related organisations Financier: Prinses Beatrix Fonds Secretariat: Department of Cell Biology (KUN) Related persons Project leader: Prof.dr. B. Wieringa Classification public health and health care biochemistry genetics histology, cell biology ... neurology, otorhinolaryngology, opthalmology Data supplier: Website Prinses Beatrix Fonds Back NOD page Last modified: 29-08-2005 00:00

80. Remifentanyl In Myotonic Dystrophy Remifentanil in myotonic dystrophy – Avoiding the Use of Muscle Relaxants and Long myotonic dystrophy, a genetic disorder of abnormal musle function, 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

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