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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 - Genetics Home Reference
Where can I find additional information about myotonic dystrophy? What other names do people use for myotonic dystrophy? What if I still have specific
http://ghr.nlm.nih.gov/condition=myotonicdystrophy

Extractions: Home What's New Browse Handbook ... Search Myotonic dystrophy On this page: 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 changes are related to 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 inability to conceive a child (infertility). The features of this disorder can occur at any age, but usually develop during a person's twenties or thirties. One variation, called congenital myotonic dystrophy, can be noted at birth. The severity of these signs and symptoms varies widely among affected people, even among members of the same family. In general, the clinical features of type 2 myotonic dystrophy tend to be milder than those of type 1.
Long CTG Tracts From The Myotonic Dystrophy Gene Induce Deletions
Long CTG Tracts from the myotonic dystrophy Gene Induce Deletions and Rearrangements during Recombination at the APRT Locus in CHO Cells
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Myotonic Dystrophy, Type 1 - Genetics Home Reference
What other names do people use for myotonic dystrophy, type 1? What if I still have specific questions about myotonic dystrophy, type 1?
http://ghr.nlm.nih.gov/condition=myotonicdystrophytype1

Extractions: Home What's New Browse Handbook ... Search Myotonic dystrophy, type 1 On this page: Myotonic dystrophy, type 1 is an inherited disorder of the muscles and other body systems. Type 1 myotonic dystrophy tends to be more severe than type 2, and the two forms are caused by mutations in different genes. Myotonic dystrophy, type 1 is a subtype of myotonic dystrophy Signs and symptoms of this disorder include progressive muscle wasting and weakness, particularly in the lower legs, hands, neck, and face. Affected individuals may also experience prolonged muscle contractions (myotonia), clouding of the lens of the eye (cataracts), heart abnormalities, balding, and inability to conceive a child (infertility). Not all affected people will experience all of these signs and symptoms, however. In most cases, the features of type 1 myotonic dystrophy appear by early adulthood. A variation of this disorder, congenital myotonic dystrophy, is evident at birth. The signs and symptoms, which can be severe or life-threatening, include generalized weakness, decreased muscle tone (hypotonia), club foot, difficulty with breathing, developmental delays, and mental retardation.
Home
to the myotonic dystrophy Support Group website. Information about 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. For ways to contact the group or to send us an e-mail go to Contact us Click the Tutorial link for an interactive guide to the genetic basis and inheritance of the disease. The Links page provides access to other web pages that we think may be useful to you. The Discussion site is currently being worked on. Please be patient with us until it is finished. In the meantime please contact the helpline number 0115 987 0080 or e-mail at mdsg@tesco.net. The new News page provides you with information of events and meetings which may be of interest to you. 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
a CHORUS notecard document about myotonic dystrophy.
http://chorus.rad.mcw.edu/doc/01058.html
Myotonic Dystrophy: Pathology
myotonic dystrophy (DM1) Mild changes. Fiber size variation myotonic dystrophy (DM2). H E stain, ATPase. Pyknotic nuclear clumps
http://www.neuro.wustl.edu/neuromuscular/pathol/myotdyspath.htm
Myopathies Without EOM Weakness: Facioscapulohumeral + Myotonic Dystrophy
myotonic dystrophy CTG repeat near, 5 of, enhancer element for SIX5 Cell localization of muscleblind proteins in myotonic dystrophies
http://www.neuro.wustl.edu/neuromuscular/musdist/pe-eom.html
Muscular Dystrophy Campaign
Factsheet describing myotonic dystrophy, its inheritance patterns, causes, future advances, problems and management of the condition.
http://www.muscular-dystrophy.org/information_resources/factsheets/medical_condi

Extractions: You can download this factsheet as a Word document: Myotonic dystrophy factsheet 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: Muscle types 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
Muscular Dystrophy Campaign
Factsheet describes myotonic dystrophy, its rarity, symptoms, diagnosis, inheritance patternsand treatment.
http://www.muscular-dystrophy.org/information_resources/factsheets/medical_condi

Extractions: You can download this factsheet as a Word document Congenital myotonic dystrophy factsheet 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' means '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.)
Myotonic Dystrophy
Myotonic Muscular Dystrophy Fact Sheet, MDA Australia; Researchers Find myotonic dystrophy Gene, Human Genome News; myotonic dystrophy Making an Informed
http://www.kumc.edu/gec/support/myotonic.html
Myotonic Dystrophy
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
http://www.hechoenpuertorico.org/myotonic/myotonic.html

Extractions: var site="sm9hechoenpuertorico" 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".
Myotonic Dystrophy
myotonic dystrophy is the most common form of adult onset muscular dystrophy Congenital myotonic dystrophy can be associated with a very severe disease
http://www.ggc.org/Diagnostics/Molecular/myotonic_dystrophy.htm

Extractions: Who to Contact Site Index Search GGC Website var MenuLinkedBy='AllWebMenus [4]', awmBN='622'; awmAltUrl=''; 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.
Myotonic Dystrophy, 3rd Edition
myotonic dystrophy affects every part of the body and this book is Diagnostic Investigations in myotonic dystrophy Muscle Pathology and Neurophysiology
http://www.elsevier-international.com/catalogue/title.cfm?ISBN=0702021520
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. Researching symptoms of Myotonic Dystrophy: Further information about the symptoms of Myotonic Dystrophy is available including a list of symptoms of Myotonic Dystrophy , or alternatively return to research other symptoms in the symptom center Treatments for Myotonic Dystrophy: Various information is available about treatments available for Myotonic Dystrophy , or research treatments for other diseases.
Symptoms Of Myotonic Dystrophy - WrongDiagnosis.com
Symptoms of myotonic dystrophy including signs, symptoms, incubation period, duration, and correct diagnosis.
http://www.wrongdiagnosis.com/m/myotonic_dystrophy/symptoms.htm

Extractions: Feedback General information about symptoms of Myotonic Dystrophy: The symptom information on this page attempts to provide a list of some possible symptoms of Myotonic Dystrophy. This symptom information has been gathered from various sources, may not be fully accurate, and may not be the full list of symptoms of Myotonic Dystrophy. Furthermore, symptoms of Myotonic Dystrophy may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of symptoms and whether they are indeed symptoms of Myotonic Dystrophy. List of symptoms of Myotonic Dystrophy: The list of symptoms mentioned in various sources for Myotonic Dystrophy includes: More symptoms of Myotonic Dystrophy: In addition to the above information, to get a full picture of the possible symptoms of this condition and its related conditions, it may be necessary to examine symptoms that may be caused by complications of Myotonic Dystrophy, underlying causes of Myotonic Dystrophy, associated conditions for Myotonic Dystrophy, risk factors for Myotonic Dystrophy, or other related conditions.
CMGS-Myotonic Dystrophy/17.12.98
myotonic dystrophy (DM) is an autosomal dominant adult onset neuromuscular In myotonic dystrophy the repeat is polymorphic but stable within the normal
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 (DM) is the commonest muscular dystrophy of adult life and affects The myotonic dystrophy gene locus and the underlying mutation were
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.
OUP: Myotonic Dystrophy: The Facts: Harper
myotonic dystrophy is part of the group of muscular dystrophies. Written by the world authority on myotonic dystrophy, Peter Harper, the book covers a
http://www.oup.co.uk/isbn/0-19-852586-9

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Myotonic Dystrophy
CHC Wausau Hospital s Medical Library and Patient Education Center provides research services and healthcare information to physicians,
http://www.chclibrary.org/micromed/00057650.html

Extractions: 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 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.
Autosomal Dominant: Myotonic Dystrophy
Detailed information on myotonic dystrophy, one types of autosomal dominant condition.
http://www.healthsystem.virginia.edu/uvahealth/peds_genetics/autosom.cfm

Extractions: [ Skip Navigation ] Topics Adolescent Medicine Allergy/Asthma/Immunology Blood Disorders Burns Cancer Common Injuries/Poison Tips Craniofacial Anomalies Dermatology Diabetes/Endo/Metabolism Eye Care Genitourinary/Kidney High-Risk Newborn High-Risk Pregnancy Infectious Diseases Medical Genetics Mental Health Nervous System Disorders Normal Newborns Oral Health Orthopaedics Pediatric Surgery Respiratory Disorders Terminal Illness in Children Transplantation Search This Site 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. 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:

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