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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 <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> 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 <i>Gale Encyclopedia of Medicine, 3rd ed.</i> 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 <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> 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

1. Myotonic Dystrophy
   myotonic dystrophy is an inherited disorder in which the muscles contract but have decreasing power to relax. With this condition  
   http://www.ncbi.nlm.nih.gov/disease/Myotonic.html
   
   Extractions: MYOTONIC DYSTROPHY is an 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 can cause mental deficiency, hair loss and cataracts. Onset of this rare disorder commonly occurs during young adulthood. However, it can occur at any age and is extremely variable in degree of severity. An unusual feature of this illness is that its symptoms usually become more severe with each successive generation. This is because mistakes in the faithful copying of the gene from one generation to the next result in the amplification of a genomic 'AGC/CTG triplet repeat', similar to that found in Huntington disease. Unaffected individuals have between 5 and 27 copies of AGC/CTG, myotonic dystrophy patients who are minimally affected have at least 50 repeats, while more severely affected patients have an expansion of up to several kilobase pairs.

2. Myotonic Muscular Dystrophy (MMD) (aka Steinert's Disease) | MDA
   Myotonic Muscular Dystrophy (MMD)( Also known as Steinert's Disease) Click for Materials En Español and MDAchats. Receive email news, tips and updates from MDA or ask us a quick question. Quick Definition Onset ·. Birth to middle age. Scientists Closing in on Deleting Excess DNA in myotonic dystrophy 7/03 Researchers Snip Out Genetic Flaw in Type 1 myotonic dystrophy 2/03  
   http://www.mdausa.org/disease/dm.html
   
   Extractions: Click for and MDAchats Receive e-mail news, tips and updates from MDA or ask us a quick question. Birth to middle age. Generalized weakness and muscle wasting affecting face, feet, hands and neck first. Delayed relaxation of muscles after contraction. Congenital myotonic form is more severe. Progression is slow, sometimes spanning 50 to 60 years. Autosomal dominant. Do you need to find MDA in your city? Enter your Zip code here for where to turn for clinics and medical services; support groups; summer camp; local events and volunteer and fund-raising opportunities close to home.

3. International Myotonic Dystrophy Organization
   This is the site of the International myotonic dystrophy Organization. A New Book myotonic dystrophy The Facts by Dr. Peter Harper Published in Summer 2002.  
   http://www.myotonicdystrophy.org/
   
   Extractions: HOME TABLE OF CONTENTS SEARCH DISCUSSION FORUMS ... CHAT ROOM International Myotonic Dystrophy Organization Sections General Information How do I Know if I have Myotonic Dystrophy? Activities that Kids Like Anesthetic Complications ... Toilet Training These pages is devoted to information about Myotonic Dystrophy (DM 1 and DM2 ) and Congenital Myotonic Dystrophy (CMyD), both forms of muscular dystrophy. These are also know as dystrophia myotonica or Steinert's disease. There are two types of Myotonic Dystrophy DM1 and a new second type called DM2 or PROMM for Proximal Myotonic Myopathy. The information in this page will be medically based whenever possible and will attempt to be as accurate as possible. This page will try and assist parents and families as they struggle through this disease. As there is not a comprehensive place to find and receive practical everyday information this page will serve that function. Don't miss the personal Stories section this contains great personal information of people and families with Congenital Myotonic Dystrophy. If you have myotonic dystrophy you should carry the Alert Card that folds into wallet size.

4. GeneReviews: Myotonic Dystrophy
   A summary of myotonic dystrophy, the diagnosis, clinical description, differential diagnosis, management, genetic counseling and resources.  
   http://www.geneclinics.org/profiles/myotonic-d/

5. Myopathies Without EOM Weakness: Facioscapulohumeral + Myotonic Dystrophy
   MYOPATHIES NEURONOPATHIES. WITH NO. myotonic dystrophy. Facioscapulohumeral dystrophy. Scapuloperoneal syndromes. Other myopathies. FSH dystrophy Asymmetric triangular shoulders. myotonic dystrophy. myotonic dystrophy 1 ( DM 1) Clinical features 1st picture of myotonic dystrophy. Weakness of face sternomastoids. myotonic dystrophy General  
   http://www.neuro.wustl.edu/neuromuscular/musdist/pe-eom.html

6. Myotonic Dystrophy: Pathology
   myotonic dystrophy Late changes. H E stain. Numerous internal nuclei Often in longitudinal chains. Myopathic changes Fiber size variation. Acid phosphatase Focal staining. Type I fiber predominance. Fiber size variation Return to myotonic dystrophy. Return to Neuromuscular syndromes  
   http://www.neuro.wustl.edu/neuromuscular/pathol/myotdyspath.htm

7. Myotonic Dystrophy
   a CHORUS notecard document about myotonic dystrophy myotonic dystrophy. disease involving the skeletal muscles of the upper extremities, shoulder girdle, neck and GI tract  
   http://chorus.rad.mcw.edu/doc/01058.html

8. National Patient Registry - Home
   Connecting researchers and patients. Participation, purpose, investigators, personnel and contact information.  
   http://www.urmc.rochester.edu/nihregistry/
   
   Extractions: Purpose ... Neurology Home The National Registry was developed to: This project has been funded in whole or part by Contract #N01-AR-0-2250 from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) and the National Institute of Neurologic Disorders and Stroke (NINDS). dystrophy_registry@urmc.rochester.edu Updated 3/31/2004 . For questions or suggestions concerning the content of these pages, contact the URMC Webmaster

9. 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 Dystrophies, the muscle weakness is accompanied  
   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".

10. Myotonic Dystrophy And Muscular Dystrophy Information At The Logan Paige Foundat
    Dedicated to educating potential parents about myotonic dystrophy and genetic testing. Information about fundraising, both for research and to assist people who cannot afford testing, news, stories, and about Logan Paige.  
    http://www.loganpaige.org/

11. MYOTONIC DYSTROPHY/CONGENITAL MYOTONIC DYSTROPHY: Contact A Family - For Familie
    An article about myotonic dystrophy, its characteristics and inheritance patterns.  
    http://www.cafamily.org.uk/Direct/m57.html
    
    Extractions: helpful? yes no People with myotonic dystrophy, like those with other muscular dystrophies, experience muscle weakness and wasting which is usually progressive. There are many differences, though, in the type of problem that myotonic dystrophy patients may have. These may include the following: Operations and anaesthetics can be risky, even for mildly affected people. It is most important that any surgeon or anaesthetist should know a patient has myotonic dystrophy before surgery is planned.

12. Myotonic Dystrophy
    Genes and Disease PDF Document Muscle and Bone myotonic dystrophy myotonic dystrophy can cause mental deficiency, hair loss and cataracts.  
    http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.sect

13. Management Of Myotonic Dystrophy
    Management of myotonic dystrophy. myotonic dystrophy Incurable but not Unmanageable . The incidence of myotonic dystrophy is 1 in 8000.  
    http://www.myotonicdystrophy.org/Management of DM.htm
    
    Extractions: HOME TABLE OF CONTENTS SEARCH DISCUSSION FORUMS ... CHAT ROOM International Myotonic Dystrophy Organization Sections General Information How do I Know if I have Myotonic Dystrophy? Activities that Kids Like Anesthetic Complications ... Toilet Training Management of Myotonic Dystrophy This information is from the 11th annual conference of the English Myotonic Dystrophy "Myotonic Dystrophy Incurable but not Unmanageable" The incidence of Myotonic Dystrophy is 1 in 8000. Most general practioners have about 2000 patients in their practice. So by simple mathematics only one in four general practioners will see a patient with DM. Most will not know much about it. So it is necessary to have specialized centers for treatment. (Webmaster note: By implication the congenital form is about 1 in 100,000 so that only 1 in 50 pediatricians will have a patient with CMyD in their practice) Most other muscular dystrophies will only affect the muscles. DM is different in that other systems are affected as well. Another difference is that with most other genetic diseases you either have the gene and the disease or you don't. DM is a variable genetic disease. It severity differs with the age of onset and the number of repeats. There is not a distinct expression of the disease based on an on or off view. Thus, many medical practioners will have a harder time understanding the disease. The other implication is that you can not generalize the condition of one patient with the disease to another, it is variable

14. ATE Responses
    SUBJ (01/00) CONGENITAL MD AND CONGENITAL myotonic dystrophy (CMMD). Is there a difference between congenital muscular dystrophy  
    http://www.mdausa.org/experts/question.cfm?id=852

15. MYOTONIC MUSCULAR DYSTROPHY
    FACT SHEET. myotonic dystrophy. What Is Muscular Dystrophy? There are This fact sheet deals only with myotonic dystrophy. The Muscular  
    http://www.mda.org.au/specific/mdamyt.html
    
    Extractions: What is Myotonic Dystrophy? Myotonic dystrophy is the most common adult form of muscular dystrophy. Myotonic dystrophy is caused by a defective gene. Unlike any of the other muscular dystrophies, the muscle weakness is accompanied by myotonia (delayed relaxation of muscles after contraction) and by a variety of abnormalities in addition to those of muscle. The disorder is also known as Steinert's disease and dystrophia myotonica.

16. Myotonic Dystrophy - Genetics Home Reference
    Conditions. Genes. Understand Genetics. Resources. Glossary. About. Help. myotonic dystrophy. What is myotonic dystrophy? myotonic dystrophy is an inherited disorder of the muscles and other body systems. Other signs and symptoms of myotonic dystrophy may include clouding of the lens of the eye (cataracts One variation, called congenital myotonic dystrophy, can be noted at birth  
    http://ghr.nlm.nih.gov/ghr/disease/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.

17. Redirect
    http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?160900

18. Home
    to the myotonic dystrophy Support Group website. Information page. 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 a place for you to exchange information, thoughts and questions. Also for information about local and national Support Group meetings. 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. Site last updated 3rd April 2004 - Date changed for hotel bookings

19. Myotonic_dystrophy.html
    myotonic dystrophy Sources at Reprogenetics.commyotonic dystrophy at Reprogenetics.com. myotonic dystrophy information presented at Reprogenetics.com. myotonic dystrophy sources by clicking above.  
    http://www.umd.necker.fr/myotonic_dystrophy.html

20. Myotonic Dystrophy Sources Found On Reprogenetics.com
    myotonic dystrophy Information Available on Reprogenetics.com. myotonic dystrophy information available by clicking above. Myotonic  
    http://www.reprogenetics.com/myotonic_dystrophy_t.html
    
    Extractions: Myotonic Dystrophy Information Available on Reprogenetics.com Find myotonic dystrophy on Reprogenetics.com. terms behavior in down syndrome children down syndrome pomes pgs 5600 down syndrome first call packets , and down syndrome during world war two Our team is the only one in the nation with published positive outcome results after genetic diagnosis of aneuploidy. REPROGENETICS also provides educational materials to IVF centers as well as patient consultations with board certified genetic counselors. Patients interested in PGD services could contact an IVF center for which we provide services or contact our genetic counselor. Our genetics team in the laboratories of REPROGENETICS includes Drs. Santiago Munné, Jacques Cohen and Dagan Wells among others. Preimplantation Genetic Diagnosis consists of the biopsy of a single cell per embryo, followed by its genetic diagnosis through different techniques... Patients interested in PGD services could contact an IVF center for which we provide services or contact our genetic counselor. Myotonic dystrophy www.Reprogenetics.com facilitates the scheduling of cycles, tracking of cycles, reporting and analytical review. We also provide embryologist that can perform embryo biopsy and cell processing through IVF Labs, LLC. Our team is the only one in the nation with published positive outcome results after genetic diagnosis of aneuploidy. Our team was the first to develop genetic testing for translocations and has now performed more than 250 cases.

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