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

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.

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

Myotonic Muscular Dystrophy (MMD) (Also known as Steinert's Disease) Click for and MDAchats Receive e-mail news, tips and updates from MDA or ask us a quick question. Quick Definition: 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. Find Your Local MDA 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. For more articles and references, please use the search feature Basic References Special MMD Materials FAQ's and Simply Stated Articles ... News Releases Basic References Facts About Myotonic Dystrophy "Ask the Experts" Responses about MMD "Ask the Experts" Responses about Congenital MMD "Ask the Experts" Responses to General Neuromuscular Questions ... General Interest Publications Special MMD Materials MMD (Myotonic, CMMD, DM) ONLINE RESEARCH CONFERENCE

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/

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/

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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

Front Search Index Links ... Patient Info WITH NO Myotonic Dystrophy Facioscapulohumeral dystrophy Scapuloperoneal syndromes Other myopathies FSH dystrophy: Asymmetric triangular shoulders MYOTONIC DYSTROPHY Myotonic dystrophy 1 (DM 1) Clinical features Disease mechanisms Epidemiology Genetic testing ... Laboratory features Myotonin protein kinase (DMPK) Gene Protein DM Variants Genetic loci DM 2 (PROMM) Differential diagnosis Also see: Review U Wash 1st picture of myotonic dystrophy Myotonic Dystrophy: General 2 Genetic loci DM 1 : 98% of families l Myotonin protein kinase (DMPK) ; Chromosome 19q13.3; Dominant DM 2 (PROMM) : Rare l Zinc finger protein 9 (ZNF9) ; Chromosome 3q21; Dominant Myotonic Dystrophy 1 (DM1) Clinical features Comparison to DM2 Congenital General ... Laboratory features Myotonin protein kinase (DMPK) CTG repeats Disease mechanisms Generation effects: Anticipation Protein Also see: U Wash Review DM1 Gene Locus DM 1 CTG repeats Disease mechanisms Generation effects: Anticipation CTG repeats : Different numbers of copies Location of CTG repeat sequence in DMPK gene Terminal (15th) exon of DMPK gene Downstream from translation termination codon: In 3' untranslated region Normal ranges of CTG repeat numbers Overall pattern 4 to 37 CTG repeat copies (CTG Trimodal distribution Alu repeat insertions (polymorphism) in CTG repeats: Associated with CTG repeat size Alu repeat insertions present (Alu+): CTG , CTG Alu repeat insertions absent (Alu-): CTG Low-normal number: 5 CTG repeats Most common single allele in many regions

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

MYOTONIC DYSTROPHY Myotonic dystrophy: Late changes Numerous internal nuclei: Often in longitudinal chains Myopathic changes: Fiber size variation Acid phosphatase: Focal staining Type I fiber predominance Myotonic dystrophy: Early changes Fiber size variation Internal nuclei in some fibers Smaller type I (darker) fibers Return to Myotonic dystrophy Return to Neuromuscular syndromes Return to Neuromuscular home page

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

CHORUS Collaborative Hypertext of Radiology Musculoskeletal system Feedback Search myotonic dystrophy disease involving the skeletal muscles of the upper extremities, shoulder girdle, neck and GI tract. symptoms: frontal balding testicular atrophy lens opacities GI complaints (incl. megacolon Brian Funaki, MD - 6 February 1995 Last updated 26 May 2004 Medical College of Wisconsin

8. 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

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

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

printer friendly MYOTONIC DYSTROPHY/CONGENITAL MYOTONIC DYSTROPHY home more about us in your area conditions information ... how you can help search this site 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.

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

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

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?

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

A service of the U.S. National Library of Medicine Home Search Conditions Genes ... Help Myotonic dystrophy Related Gene(s) Quick links to this topic NIH Publications National Institutes of Health MedlinePlus Health Information Genes and Disease Genetic disorder summaries Educational resources Information pages Patient support For patients and families Gene Reviews Clinical summary Gene Tests DNA test labs ClinicalTrials.gov Research studies PubMed Recent literature OMIM Genetic disorder catalog Myotonic dystrophy What is 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. myotonic dystrophy, type 1 myotonic dystrophy, type 2 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/

a Welcome 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. 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

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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

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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