1. GeneReviews: Myotonic Dystrophy Type 1 A summary of myotonic dystrophy, the diagnosis, clinical description, differential diagnosis, management, genetic counseling and resources. http://www.geneclinics.org/profiles/myotonic-d/

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2. 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

printer friendly MYOTONIC DYSTROPHY/CONGENITAL MYOTONIC DYSTROPHY home how we can help medical information index of conditions ... how you can help Did you find this page helpful? yes no MYOTONIC DYSTROPHY 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: The 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 The rate of deterioration is commonly slow, with little change over a long period; some patients 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 Age at onset is very variable Symptoms may appear at any time from birth to old age 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.

3. National Patient Registry - Home Connecting researchers and patients. Participation, purpose, investigators, personnel and contact information. http://www.urmc.rochester.edu/nihregistry/

Registry Home Registry Purpose ... Neurology Home National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members The National Registry was developed to: Help people with Myotonic Dystrophy (DM) or Facioscapulohumeral Muscular Dystrophy (FSHD) participate in research on their disease. Help investigators accomplish their research by connecting them with people who have DM or FSHD. Encourage more research on these rare diseases. 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

4. 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/

5. International Myotonic Dystrophy Organization This is the site of the International myotonic dystrophy Organization. Included is comprehensive information on management of the disease as well as http://www.myotonicdystrophy.org/

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 ... Workshop on Burden of Muscle Diseases 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 on Myotonic Dystrophy this page will serve that function. Don't miss the personal Stories section this contains great personal information of over 50 people and families with Congenital Myotonic Dystrophy.

6. MYOTONIC MUSCULAR DYSTROPHY FACT SHEET myotonic dystrophy What Is Muscular Dystrophy? There are a number of different types of muscular dystrophy. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

7. Management Of Myotonic Dystrophy Eyes and Ears Cataracts can be the first evidence of myotonic dystrophy disease. Join the International myotonic dystrophy Organization mailing list http://www.myotonicdystrophy.org/Management of DM.htm

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 ... Workshop on Burden of Muscle Diseases 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

8. International Myotonic Dystrophy Organization This is the site of the International myotonic dystrophy Organization. Included is comprehensive information on management of the disease as well as http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

9. Myotonic Dystrophy Genes and disease provides short descriptions of inherited disorders. It is hosted by the National Center for Biotechnology Information (NCBI), http://www.ncbi.nlm.nih.gov/disease/Myotonic.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View DM on chromosome 19 Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information GeneClinics a medical genetics resource 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. The myotonic dystrophy gene, found on chromosome 19, codes for a protein kinase that is found in skeletal muscle, where it likely plays a regulatory role. 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.

10. GeneReviews Myotonic Dystrophy Type 1 A summary of myotonic dystrophy, the diagnosis, clinical description, differential diagnosis, management, genetic counseling and resources. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Myotonic Dystrophy A discussion about myotonic dystrophy, when it occurs, symptoms and the gene. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.sect

12. Myotonic Dystrophy A discussion about myotonic dystrophy, when it occurs, symptoms and the gene. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.

13. Muscular Dystrophy Association Diseases -Myotonic Muscular Myotonic Muscular Dystrophy (MMD) (Also known as Steinert's Disease) http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. MYOTONIC MUSCULAR DYSTROPHY myotonic dystrophy is the most common adult form of muscular dystrophy. myotonic dystrophy shows an early pattern of muscle wasting that is unique among http://www.mda.org.au/specific/mdamyt.html

FACT SHEET MYOTONIC DYSTROPHY What Is Muscular Dystrophy? There are a number of different types of muscular dystrophy. They are muscle diseases which have three features in common; they are hereditary, they are progressive; and each causes a characteristic, selective pattern of muscle wasting and weakness. This fact sheet deals only with Myotonic Dystrophy. The Muscular Dystrophy Association deals with a wide variety of disorders which affect muscles, nerves which control muscles and the interactions between the two. Please contact the MDA for further information. 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. Is the myotonia a serious problem?

15. For Conference Information See Services Page to the myotonic dystrophy Support Group website. Information about the group and our aims can be found on the About us page. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. Muscular Dystrophy Association| Diseases -Myotonic Muscular Dystrophy (MMD) Myotonic Muscular Dystrophy (MMD) (Also known as Steinert s Disease) Congenital myotonic dystrophy is the more severe form. http://www.mdausa.org/disease/dm.cfm

Search Our Site Enter Your Zip Code: Click on your state for local offices in California Florida or New York Genetics and Neuromuscular Diseases Breathe Easy: Respiratory Care for Children with MD Skills for the Job of Living: OT for Adults ... MD-CARE Act Leads to Establishment of Muscular Dystrophy Research Centers Receive e-mail news, tips and updates from MDA or ask us a quick question. Myotonic Muscular Dystrophy (MMD) (Also known as Steinert's Disease) Definition Cause Onset Symptoms Progression Inheritance Facts About Myotonic Muscular Dystrophy Disease-Specific Materials Facts About Myotonic Dystrophy MMD (Myotonic, CMMD, DM) ONLINE RESEARCH CONFERENCE with Sharon Hesterlee, Ph.D. and Robert McMichael, M.D. August 14, 2001

17. Identification Of Transcriptional Targets For Six5 Implication For Identification of transcriptional targets for Six5 implication for the pathogenesis of myotonic dystrophy type 1 Shigeru Sato1 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. Facts About Myotonic Muscular Dystrophy | MDA Publications Myotonic muscular dystrophy (MMD) is a form of muscular dystrophy that Myotonic muscular dystrophy is often known simply as myotonic dystrophy and is http://www.mdausa.org/publications/fa-mmd-qa.html

New 08/05 Facts About Myotonic Muscular Dystrophy Muscular Dystrophy Association Introduction Questions and Answers Does It Run in the Family? MDA's Search for Treatments and Cures ... MDA Is Here to Help You QUESTIONS AND ANSWERS What is Myotonic Muscular Dystrophy? What Causes MMD? What Happens in Adult-onset MMD? Limb Muscles ... How is MMD Treated? What is Myotonic Muscular Dystrophy? Weakness and wasting of voluntary muscles in the face, neck, and lower arms and legs are common in myotonic muscular dystrophy. Muscles between the ribs and those of the diaphragm, which moves up and down to allow inhalation and exhalation of air, can also be weakened. The infant form of MMD is more severe. Unfortunately, it can occur in babies born to parents who have the adult form, even if they have very mild cases. The word myotonic is the adjective for the word myotonia The term muscular dystrophy MMD symptoms sometimes begin at birth. Infants with this disorder

19. Identification Of Transcriptional Targets For Six5 Implication Identification of transcriptional targets for Six5 implication for the pathogenesis of myotonic dystrophy type 1 Shigeru Sato1 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

20. The Observer UK News Cancer Results To Stay Secret Since then, however, tests for other inherited diseases including myotonic dystrophy and hereditary motor and sensory neuropathy, as well as http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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