Geometry.Net - Health_Conditions: Myotonic Dystrophy


Home - Health_Conditions - Myotonic Dystrophy

e99.com Bookstore

Images

Newsgroups

21-40 of 88 Back | 1 | 2 | 3 | 4 | 5 | Next 20

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Myotonic Dystrophy: more books (25)

Myotonic dystrophy: An entry from Thomson Gale's Gale Encyclopedia of Neurological Disorders by Bryan, PhD Cobb, 2005

On Oral Health in Children and Adults with Myotonic Dystrophy by Monica Engvall, 2010-04-30

Muscular dystrophy: An entry from Thomson Gale's Gale Encyclopedia of Children's Health: Infancy through Adolescence by L., Jr., MD, DrPH Fallon, 2006

Gale Encyclopedia of Medicine: Muscular dystrophy by Richard Robinson, 2002-01-01

Muscular Dystrophy: An entry from Gale's Gale Encyclopedia of Medicine, 3rd ed. by Richard Robinson, 2006

Muscular Dystrophy: An entry from Macmillan Reference USA's Macmillan Reference USA Science Library: Genetics by Jeffrey M. Stajich, 2003

Myotonic Dystrophy Type 1: Cognition, Personality and Emotion by Stefan Winblad, 2006

Myotonic Dystrophy. by Peter S. Harper, 1990

Myotonic Dystrophy: Present Management, Future Therapy by Baziel G. M. Van Engelen, Bruno Eymard, Douglas E. Wilcox, Peter S. Harper Pepter Harper, 2004

Chemical modifiers of unstable expanded simple sequence repeats: What goes up, could come down [An article from: Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis by M. Gomes-Pereira, D.G. Monckton, 2006-06-25

lists with details

Myotonic Dystrophy
myotonic dystrophy (Dystrophia myotonica, DM) is an autosomal dominant disorder characterizedby myotonia (often detected as a difficulty in relaxing clenched
http://cmgs.org/BPG/Guidelines/2nd_ed/myotonic_dystrophy.htm

Extractions: 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 (
Myotonic Dystrophy
myotonic dystrophy (MYDY) is the most common adult form of Muscular Dystrophy.MYDY is caused by a defective gene. Hecho en Puerto Rico. myotonic dystrophy.
http://www.hechoenpuertorico.org/myotonic/myotonic.html

Extractions: Myotonic Dystrophy Diagnosis Current Research Treatment Congenital Myotonic ... Video Tape Presentations What is Myotonic Distrophy? Is the myotonia a serious problem? Delayed relaxation of voluntary muscles after contraction is often a problem even before muscle weakness is apparent. However, this is generally less noticeable after the early stages of MYDY. The myotonic symptom that is probably the most troublesome is the inability to release the hand from a grip. Which muscles are affected in Myotonic Dystrophy? MYDY shows an early pattern of muscle wasting that is unique among the major Muscular Dystrophies. The first muscles to be affected are those of the face, neck, hands, forearms, and feet (as opposed to the hip and shoulder muscles in the other dystrophies). MYDY can affect the tissues and organs of many body systems in addition to the voluntary muscle system. The list of abnormalities that can be produced by the defective gene in addition to muscle wasting and myotonia is extremely diverse. Consequently, MYDY may present itself in what one expert has called a "bewildering variety of ways".
Home
to the myotonic dystrophy Support Group website. Information page. Informationabout myotonic dystrophy can be found on the Information page.
http://www.mdsguk.org/

Extractions: About us page. For details of the work and events carried out by the group visit the Services page. Information about Myotonic Dystrophy can be found on the Information page. Click the Tutorial link for an interactive guide to the genetic basis and inheritance of the disease. For ways to contact the group or to send us an e-mail go to Contact us The Links page provides access to other web pages that we think may be useful to you. The new Discussion site is a place for you to exchange information, thoughts and questions. Also for up to date information about local and national meetings. If you would like to view this site with larger text please press here This site requires Flash Player to operate optimally press the picture and then follow the instructions to download a copy.
Myotonic Dystrophy Support Group
myotonic dystrophy Support Group. Charity Number 1073211. ANNUAL CONFERENCE. Whatis myotonic dystrophy? myotonic dystrophy is one of the Muscular Dystrophies.
http://www.nottscity.co.uk/mdsg/

Extractions: Email: mdsg@tesco.net Myotonic Dystrophy is one of the Muscular Dystrophies. It is the myotonia, which is muscle stiffness. Weakness and wasting of the muscles may also occur. The myotonia or stiffness, especially in the hands, is characteristic. Other parts of the body are frequently involved, and symptoms may include cataracts, disturbance of heart rhythm, hormonal problems, learning difficulties in children and extreme tiredness. We are a self help group, willing to provide support to families affected by the neuromuscular condition Myotonic Dystrophy. The group is affiliated to the Muscular Dystrophy Group. As volunteers, we offer help and support to one another by telephone links and correspondence. We are in the process of establishing a network of contact families which will enable us to put families in touch with one another locally if they so wish.
OUP USA: Myotonic Dystrophy: The Facts
or Browse by Subject $19.95 (01) paper 0198525869 Add to My Basket 2002 In StockS H Standard Table of Contents, myotonic dystrophy The Facts PETER HARPER
http://www.oup-usa.org/isbn/0198525869.html
OUP USA: ToC: Myotonic Dystrophy: The Facts
myotonic dystrophy The Facts Peter Harper CONTENTS. Preface 1. Whatis myotonic dystrophy 2. Muscle symptoms and myotonic dystrophy
http://www.oup-usa.org/toc/tc_0198525869.html
Myotonic Dystrophy
myotonic dystrophy. A threegeneration family affected with myotonicdystrophy. The degree of severity increases in each generation.
http://medgen.genetics.utah.edu/photographs/pages/myotonic_dystrophy.htm

Extractions: 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
CMGS-Myotonic Dystrophy/17.12.98
myotonic dystrophy (DM). Myotonic myotonic dystrophy resulting from a pointmutation in DMPK has never been observed as for Fragile X. It
http://www.ich.ucl.ac.uk/cmgs/dm98.htm

Extractions: DM patients suffer from progressive muscle stiffness, and also muscle weakness and wasting. The stiffness is attributable to myotonia, which is defined as the 'repetitive contraction of a muscle, and the consequent impaired ability to relax the muscle'. Physiologically this is due to trains of repetitive action potentials in response to a contraction. Myotonia often diminishes with repeated contractions of the same muscle, which is known as the 'warm-up phenomenon'. Myotonia is present in a group of other diseases called the myotonias and periodic paralyses. All are caused by derangements in the electrical excitability of the sarcolemma, and mutations within coding regions of ion-channel genes have been identified as the underlying molecular defect for many of them. The molecular basis of the myotonia in DM is at present less clear, although there is evidence of aberrant membrane excitability, as discussed later. DM patients also suffer from muscle weakness and wasting, which is most marked in the cranial musculature and distal limb muscles. Patients show bilateral ptosis, weakness of muscles of facial expression, and jaw muscle weakness resulting in typical facies. The muscles most frequently involved are the facial muscles, the elevators of the eyelids, the temporalis and masseter, sternocleidomastoid, the distal muscles of the forearm and the dorsiflexors of the feet. With further disease progression the diaphragm, intercostal muscles, intrinsic muscles of the hands and feet, the palatal and pharyngeal muscles, the tongue, and the extraocular muscles may also be affected.
CMGS-Myotonic Dystrophy/14.12.99
myotonic dystrophy (Dystrophia Myotonica). This fact has been difficult to rationalisewith the fact that myotonic dystrophy is dominantly inherited.
http://www.ich.ucl.ac.uk/cmgs/dm99.htm

Extractions: Myotonic Dystrophy (Dystrophia Myotonica) Myotonic dystrophy (DM) is the commonest muscular dystrophy of adult life and affects 1 in 8,000 people worldwide although there are continental variations in incidence. The incidence varies from 1 in 475 in a region of Quebec to about 1 in 25,000 in European populations and is extremely rare in African populations. It is inherited as an autosomal dominant disease and is a heterogeneous disorder affecting a wide range of systems. The features of DM include: myotonia difficulty in swallowing and symptoms of reduced intestinal motility. The disease is broadly classified into three clinical groups: minimally affected or late onset classical adult onset and severe congenital onset . People with the mildest form of DM often go undiagnosed and usually cataracts and minimal muscle involvement are the only visible sign of the condition. The classical form of DM usually develops in early adult life and is characterised by progressive muscle stiffness and weakness. Congenital DM (CDM) is the most severe form of the disease and is almost always inherited from affected mothers. It presents in newborn babies who suffer from respiratory distress, hypotonia, motor and mental retardation and facial diplegia. Diagnosis can be difficult if the family history is not known because muscle wasting may not be apparent and cataracts and myotonia are absent. CDM patients who survive the neonatal period eventually learn to walk but 60-70% are mentally retarded. By the age of 10 they develop myotonia and in adulthood they develop the additional complications associated with adult onset disease.
Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Myotonic+Dystrophy
dystrophy; EmeryDreifuss musculardystrophy; myotonic dystrophy; myotonia congenita. These disorders
http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Myotonic Dystrophy
Muscular Dystrophy Campaign Myotonic Dystrophy
myotonic dystrophy. For Latest Scientific News Published March 1995. Symptoms mayappear at any time from birth to old age. How is myotonic dystrophy inherited?
http://www.muscular-dystrophy.org/information/KeyFacts/myotonic.html

Extractions: David N Russell For Latest Scientific News March 2002 Written by Professor Peter S Harper, University of Wales College of Medicine, Cardiff for the Muscular Dystrophy Campaign What is myotonic dystrophy? People with myotonic dystrophy, like those with other dystrophies, experience muscle weakness and wasting which is usually progressive. There are many differences, though, in the type of problem that people with myotonic dystrophy may have. These may include the following: Types of muscles involved are usually in the face, jaw and neck area; the large, weight-bearing muscles of the legs and thighs are much less affected. Rate of deterioration is commonly slow, with little change over a long period; some people never have significant muscle disability. Muscle stiffness or 'myotonia' is characteristic, especially affecting the hands. Involvement of other body systems is frequent; associated problems may include cataracts, disturbance of heart rhythm, hormonal problems and, in children, learning difficulties.
Muscular Dystrophy Campaign Congenital Myotonic Dystrophy
Congenital myotonic dystrophy. Published March 1994. What is congenitalmyotonic dystrophy? Congenital myotonic dystrophy is
http://www.muscular-dystrophy.org/information/KeyFacts/conmyot.html

Extractions: site map March 2001 Written by Professor Harper, The University College of Wales, for the Muscular Dystrophy Campaign What is congenital myotonic dystrophy? Congenital myotonic dystrophy is the early childhood form of myotonic dystrophy (also known as Steinert's disease). Usually in myotonic dystrophy the symptoms begin to show in childhood or later in life, but symptoms of congenital myotonic dystrophy are evident from birth. It occurs only when the mother already has myotonic dystrophy (although she may not be aware of this) and she passes it on to the child in a more severe form. Congenital means "from birth" because the condition is usually identified at birth or soon after; myotonic means "involving muscle stiffness"; and dystrophy, "muscle wasting and weakness". (Congenital myotonic dystrophy is not the same as congenital myopathy or congenital muscular dystrophy. For more information about these or other conditions please contact the Muscular Dystrophy CampaignÕs Information Officers.)
Scottish Muscle Network Myotonic Dystrophy Page.
1. myotonic dystrophy Care Card Version 10. 2. How myotonic dystrophy may affectyour health. 3. Long Term Study of myotonic dystrophy call for volunteers.
http://www.gla.ac.uk/centres/muscle/dm.htm

Extractions: Myotonic Dystrophy Page 1. Myotonic Dystrophy Care Card (for patients). 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.
Scottish Muscle Network /ENMC Myotonic Dystrophy Anaesthetic (Anesthetic) Guidel
Scottish Muscle Network. Anaesthetic (anesthetic) guidelines for the managementof patients with myotonic dystrophy. Complications of myotonic dystrophy.
http://www.gla.ac.uk/centres/muscle/dmanaesthesia.htm
Myotonic Dystrophy
myotonic dystrophy Also See Myotonic Muscular Dystrophy Fact Sheet, MDA Australia;Researchers Find myotonic dystrophy Gene, Human Genome News;
http://www.kumc.edu/gec/support/myotonic.html
UNSW Embryology-OMIM MYOTONIC DYSTROPHY
MUSCULOSKELETAL DEVELOPMENT. Embryology Home Page. myotonic dystrophy. SelectEntry from OMIM. CLINICAL FEATURES. ADULTONSET myotonic dystrophy. GENERAL.
http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/skmus/OMIM-310200.htm
Faulty Gene Is Key To Understanding Myotonic Dystrophy
Faulty Gene is Key to Understanding myotonic dystrophy. By Katie Lai.After much mystery, researchers funded by the National Institute
http://www.niams.nih.gov/ne/highlights/spotlight/2002/myotonic.htm

Extractions: November 2002 Spotlight on Research By Year Faulty Gene is Key to Understanding Myotonic Dystrophy By Katie Lai After much mystery, researchers funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases have succeeded in linking the gene defect in myotonic dystrophy (DM) to its biological malfunction. Their findings emphasize how misreading of a gene can lead to improper conduction of electrical impulses in skeletal muscle. Two different studies were completed. Thomas A. Cooper, M.D., and his team of scientists at Baylor College of Medicine in Texas examined tissue samples from skeletal muscle in patients with myotonic dystrophy. The results revealed that extra genetic material caused by the defect in the DNA sequence affects the chloride channels that control muscle relaxation. In New York, at the University of Rochester, Charles A. Thornton, M.D., and his colleagues measured electrochemical muscle impulses in a mouse model of the disease. The results indicated that the genetic defect affects the conductance of electrical signals, resulting in delayed muscle control. People with DM have the normal gene with additional information that interferes with the translation of proteins. While further study still needs to be done, these findings are a key step in understanding the causes of muscular dystrophies.
Myotonic Dystrophy
Last update 28/07/2002. Disease Names/Indications, Gene(s), OMIM(s), Contact.myotonic dystrophy 1. Dystrophia myotonica 1. DM1. myotonic dystrophy 1. Introduction.
http://leedsdna.info/tests/DM1.htm

Extractions: 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
Disorder Information - Myotonic Dystrophy Steinert's Disease
myotonic dystrophy Steinert's disease. What is myotonic dystrophy? Who can be affectedwith myotonic dystrophy? Anyone can be affected by myotonic dystrophy.
http://www.mdac.ca/english/disorder-info/disorder-info-04.htm

Extractions: Steinert's disease What is myotonic dystrophy? Myotonic dystrophy, also known as Steinert's disease, is the most common form of muscle disease, affecting approximately one person in 8,000 worldwide. It is a disorder characterized by progressive muscle weakness and wasting and by myotonia (difficulty in relaxing the muscles after they have been contracted). It is a multisystem disease, typically involving a wide range of other tissues as well as muscle. Who can be affected with myotonic dystrophy? Anyone can be affected by myotonic dystrophy. It is a genetic disorder passed on to children of either either sex by one parent who has the disorder. Myotonic dystrophy can affect people at any age. The majority of people are diagnosed by the time they reach their early twenties. With each successive generation, the symptoms of myotonic dystrophy seem to get more severe, and the age at which they appear gets younger. This tendency is known as anticipation. What are the different forms of myotonic dystrophy?
Genetic Mapping Of A Second Myotonic Dystrophy Locus
2 pp 196 198 Genetic mapping of a second myotonic dystrophy locus Laura PW Ranum1, 2 , Paul F. Rasmussen 1 , Kellie A. Benzow 1 , Michael D. Koob 1 John W
http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v19/n2/full/ng0698_1

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

21-40 of 88 Back | 1 | 2 | 3 | 4 | 5 | Next 20