Geometry.Net - Health_Conditions: Myotonic Dystrophy


Home - Health_Conditions - Myotonic Dystrophy

e99.com Bookstore

Images

Newsgroups

41-60 of 98 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 (The Facts) by Peter Harper, 2009-10-26
Myotonic Dystrophy: The Facts (Oxford Medical Publications) by Peter Harper, 2002-08-08
Myotonic Dystrophy - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-10-21
Myotonic Dystrophy: Present Management, Future Therapy
Reading and spelling impairments in children and adolescents with infantile myotonic dystrophy [An article from: Journal of Neurolinguistics] by D. Cohen, M. Plaza, et all 2006-11-01
Myotonic Dystrophy - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18
Muscular Dystrophy Organizations: Décrypthon, Muscular Dystrophy Association, Muscular Dystrophy Campaign, Myotonic Dystrophy Foundation
Myotonic dystrophy: An entry from Thomson Gale's Gale Encyclopedia of Children's Health: Infancy through Adolescence by Tish, A.M. Davidson, Karen, M.S., C.G.C. Krajewski, 2006
Warming up improves speech production in patients with adult onset myotonic dystrophy [An article from: Journal of Communication Disorders] by B.J.M. de Swart, B.G.M. van Engelen, et all 2007-05-01
Myotonic Dystrophy: An entry from Gale's Gale Encyclopedia of Medicine, 3rd ed. by Karen, M.S., C.G.C. Krajewski, Rebecca, Ph.D. Frey, 2006
Gale Encyclopedia of Medicine: Myotonic dystrophy by C.G.C. Karen M. Krajewski M.S., 2002-01-01
Myotonic Dystrophy Medical Guide by Qontro Medical Guides, 2008-07-09
Myotonic dystrophy: An entry from Thomson Gale's Gale Encyclopedia of Genetic Disorders, 2nd ed. by Karen, MS, CGC Krajewski, 2005
CTG repeat number in the nonaffected allele of myotonic dystrophy patients is not critical for disease expression.(Brief Communication): An article from: Human Biology by M. Cipollaro, U. Galderisi, et all 1997-12-01

lists with details

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

Extractions: 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 (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
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

Extractions: Myotonic Dystrophy Page 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.
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

Extractions: 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.
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
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

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
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

Extractions: 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. 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.
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

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 (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

Extractions: 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 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.
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

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

Extractions: 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: What Caues Myotonic Dystrophy?
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

Extractions: 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
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

Extractions: 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
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
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

Extractions: 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 Brief Communications 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
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

Extractions: 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 American Academy of Neurology 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
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
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

Extractions: 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 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.
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
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

Extractions: 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.

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

41-60 of 98 Back | 1 | 2 | 3 | 4 | 5 | Next 20