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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 characterized by myotonia (often detected as a difficulty in relaxing clenched
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 of cases by expansions at a (CTG)n repeat sequence in the 3 untranslated region
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.
Myotonic Dystrophy
. myotonic dystrophy. Definition. myotonic dystrophy is a progressive disease in which the muscles are weak and are slow to relax after contraction.
http://www.healthatoz.com/healthatoz/Atoz/ency/myotonic_dystrophy.html

Extractions: 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.
Myotonic Dystrophy
Last update 21/02/2004. 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
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
Myotonic Dystrophy - Genetics Home Reference
Research studies PubMed Recent literature OMIM Genetic disorder catalog. myotonic dystrophy. What is myotonic dystrophy? How common is myotonic dystrophy?
http://ghr.nlm.nih.gov/condition=myotonicdystrophy

Extractions: A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Myotonic dystrophy Myotonic dystrophy is an inherited disorder of the muscles and other body systems. It is the most common form of muscular dystrophy in adults. Genetic factors cause the following types of myotonic dystrophy. This disorder is characterized by progressive muscle wasting and weakness, particularly in the lower legs, hands, neck, and face. People with myotonic dystrophy often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may be unable to release a grip on a doorknob or handle. Other signs and symptoms of myotonic dystrophy may include clouding of the lens of the eye (cataracts), heart abnormalities, balding, and infertility. The features of this disorder can occur at any age, but usually develop during a person's 20s or 30s. One variation, called congenital myotonic dystrophy, can be noted at birth. The severity of these signs and symptoms varies widely between people, even between members of the same family. In general, the clinical features of type 2 myotonic dystrophy tend to be milder than those of type 1.
Myotonic Dystrophy, Type 2 - Genetics Home Reference
Genetic disorder catalog. myotonic dystrophy, type 2. What is myotonic dystrophy, type 2? How common is myotonic dystrophy, type 2?
http://ghr.nlm.nih.gov/condition=myotonicdystrophytype2

Extractions: A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Myotonic dystrophy, type 2 Myotonic dystrophy, type 2 is an inherited disorder of the muscles and other body systems. Type 2 myotonic dystrophy tends to be milder than type 1, and the two forms are caused by mutations in different genes. Myotonic dystrophy, type 2 is a subtype of myotonic dystrophy Many of the signs and symptoms seen with this disorder are similar to those of type 1 myotonic dystrophy, including progressive muscle weakness, prolonged muscle contractions (myotonia), clouding of the lens of the eye (cataracts), cardiac abnormalities, balding, and infertility. The clinical features of type 2 vary widely among people, however, and tend to be milder than those seen with type 1 myotonic dystrophy. Congenital myotonic dystrophy (a form of the disorder that is evident from birth) has not been seen in families with type 2. How common is myotonic dystrophy, type 2?
Introduction: Myotonic Dystrophy - WrongDiagnosis.com
Introduction to myotonic dystrophy as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis.
http://www.wrongdiagnosis.com/m/myotonic_dystrophy/intro.htm

Extractions: Myotonic Dystrophy: Myotonia congenita is a genetic, neuromuscular disorder characterized by the slow relaxation of the muscles. Symptoms may include muscle stiffness and hypertrophy (enlargement). The disorder is caused by a genetic mutation involving the chloride channel of the muscles. The muscle stiffness, which particularly occurs in the leg muscles, may be enhanced by cold and inactivity, and is often relieved by exercise.
Clinical Trials: Myotonic Dystrophy: Muscle Wasting And Altered Metabolism, URMC
Clinical Trials myotonic dystrophy Muscle Wasting And Altered Metabolism. In 1992, the gene alteration that is responsible for
http://www.urmc.rochester.edu/neuro/nmdweb.htm

Extractions: Myotonic Dystrophy: Muscle Wasting And Altered Metabolism In 1992, the gene alteration that is responsible for myotonic dystrophy, the most common form of muscular dystrophy, was discovered. However, at present the cause of the muscle weakness and wasting and the insulin resistance in myotonic dystrophy remains a mystery. Richard Moxley, M.D. is investigating whether the amount of muscle wasting and weakness in myotonic dystrophy relates to the size of the alteration in the gene and whether the muscles which are most wasted show more of a decreased response to insulin. This study involves three inpatient visits on the General Clinical Research Center at the University of Rochester. The first visit is for five days. The second and third visits are for three days. Patients with other forms of muscle wasting and weakness will be studied, such as
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.
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.
Scottish Muscle Network. myotonic dystrophy Care Card. myotonic dystrophy Care Card, version 10. There are two full myotonic dystrophy care pathways available.
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.
CMGS-Myotonic Dystrophy/17.12.98
myotonic dystrophy (DM). Myotonic myotonic dystrophy resulting from a point mutation 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 rationalise with 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.
Myotonic Dystrophy
myotonic dystrophy. Who to Contact Site Index. myotonic dystrophy. myotonic dystrophy is the most common form of adult onset
http://www.ggc.org/Diagnostics/Molecular/myotonic_dystrophy.htm

Extractions: Who to Contact Site Index Specimen requirements : 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. If necessary, ACD solution A Vacutainer tubes (yellow top) may be substituted. Prenatal studies require two confluent T-25 flasks containing cultured CVS material or amniocytes. A maternal blood sample is also requested for prenatal analysis. Transport : Please contact the Molecular Diagnostic Laboratory Coordinator (1-800-473-9411) for shipping information. The specimen should be kept at room temperature and delivered via overnight shipping. FedEx delivery is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on a Friday can be safely designated for Monday delivery. However, Saturday delivery is available. Analysis standards : Analysis will be completed within 14 days from sample receipt. The quality and interpretation of test results are assessed by the laboratory director. Technical staff independently assess the quality and interpretation of the test. The Greenwood Genetic Center Molecular Diagnostic Laboratory is CLIA certified and actively participates in CAP proficiency surveys.
Muscular Dystrophy Campaign Myotonic Dystrophy
What is myotonic dystrophy? There are many differences, though, in the type of problem that people with myotonic dystrophy may have.
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
Call for details David N Russell 01536 710050. site map. Congenital myotonic dystrophy. March 2001. What is congenital myotonic dystrophy?
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 Campaignâs Information Officers.) How common is it?
Myotonic Dystrophy - Information / Diagnosis / Treatment / Prevention
home neurological disorders muscle diseases myotonic dystrophy myotonic dystrophy. Information Diagnosis Treatment Prevention.
http://www.healthcyclopedia.com/neurological-disorders/muscle-diseases/myotonic-
Myotonic Dystrophy Support Group
Welcome to myotonic dystrophy Support Group. Therefore, navigation of myotonic dystrophy Support Group will not be aided by having a menu present at all times.
http://www.nottingham.ac.uk/~plzmh/discus/

Extractions: 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
Myotonic Dystrophy Support Group
\ Welcome to the discussion pages for the myotonic dystrophy Support Group. Please click 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

Extractions: 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
Myotonic Dystrophy
myotonic dystrophy. myotonic dystrophy myotonic dystrophy is an inherited disorder in which the muscles contract but have decreasing power to relax.
http://www.health-nexus.com/myotonic_dystrophy.htm

Extractions: Health-Nexus.Net Health-Nexus.Org The #1 Health information site Search Health-Nexus for: Match ALL words Match ANY word Email this page to a friend ! Post a question or comment on our Message Board Home Page Health Specialties Health News ... Alternative Health Options Substance Abuse Animal Health Search: Books Magazines Video Keywords: Find it Here Myotonic Dystrophy National Registry of Myotonic Dystrophy and FSHD Patients and Family Members Connecting researchers and patients. Participation, purpose, investigators, personnel and contact information.

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