1. The Contact A Family Directory - MYOTONIC DYSTROPHY/CONGENITAL MYOTONIC DYSTROPH 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 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 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.

2. Myotonic Dystrophy A discussion about myotonic dystrophy, when it occurs, symptoms and the gene.Category Health Conditions and Diseases myotonic dystrophy...... resource. myotonic dystrophy is an inherited disorder in which themuscles contract but have decreasing power to relax. With this 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.

3. We Have Moved International myotonic dystrophy Organization. WEB BASED SUPPORT SITE AND COMMUNITYFORUM. General Information. How do I Know if I have myotonic dystrophy? http://www.myotonicdystrophy.com/

HOME TABLE OF CONTENTS SEARCH DISCUSSION FORUMS ... CHAT ROOM International Myotonic Dystrophy Organization WEB BASED SUPPORT SITE AND COMMUNITY FORUM Sections General Information How do I Know if I have Myotonic Dystrophy? Sleeping Problems and Energy Levels Congenital Muscular Dystrophy ... Fatigue and DM We have moved!!!! We are now http://www.myotonicdystrophy.org Please change your bookmark Click here to go to new site HOME TABLE OF CONTENTS SEARCH ... CHAT ROOM Don't forget to sign the GUESTBOOK! Also sign up for the mailing list (Note lots of info here so it may take a minute to open) Also donations to keep us operating are appreciated Send mail to info@myotonicdsytrophy.org with questions or comments about this web site. Last modified: February 09, 2001

4. International Myotonic Dystrophy Organization This is the site of the International myotonic dystrophy Organization. New Book MyotonicDystrophy 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.

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

Registry Home FAQs Participation ... Neurology Home National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members The Purpose of the Registry is to: Help people with myotonic dystrophy or FSHD get connected with researchers. Help researchers make connections with people who have myotonic dystrophy or FSHD. Encourage more research on these 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 . For questions or suggestions concerning the content of these pages, contact the URMC Webmaster

7. MYOTONIC MUSCULAR DYSTROPHY What Is Muscular Dystrophy? There are a number of different types of muscular dystrophy. What is myotonic dystrophy? myotonic dystrophy is the most common adult form of muscular dystrophy. myotonic dystrophy 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?

8. 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/

9. Genetics Research: Myotonic Dystrophy myotonic dystrophy. Principal Investigators Henry F. Epstein, M.D. http://www.bcm.tmc.edu/neurol/research/genes/genes9.html

Myotonic Dystrophy Principal Investigators: Henry F. Epstein, M.D. Paul E. Schulz, M.D. Autosomal dominant with anticipation Frequency ~1 in 8,000 Multisystem involvement with variable clinical presentation (common clinical presentation: myotonia, distal muscle weakness and atrophy, cataracts and daytime hypersomnolence, which often accompany involvement of other organs including the gastrointestinal tract, endocrine organs, peripheral nerve and bone.) The DM locus on chromosome 19 An expansion of a CTG repeat in the 3' untranslated region of a protein kinase gene (DMPK). Current Research Efforts include: Genotype-phenotype correlation Effects of the CTG repeat expansion on DMPK gene expression Physiological functions of DMPK protein Mechanisms of the CTG repeat instability in soma and germline Population genetics of the CTG repeat Clinical and genetic characterization of myotonic dystrophy-like phenotypes without CTG repeat expansions Selected References: Dunne, P.W., Ma, L., Casey, D.L., Harati, Y. and Epstein, H.F. Localization of myotonic dystrophy protein kinase in skeletal muscle and its alteration with disease. Cell Motil. Cytoskel., 33:52-63, 1996. Dunne, P.W., Ma, L., Casey, D.L. and Epstein, H.F. Myotonic protein kinase expression in human and bovine lenses. Biochem. Biophys. Res. Comm. 225:281-288, 1996.

10. Management Of Myotonic Dystrophy International myotonic dystrophy Organization. WEB BASED SUPPORT SITE ANDCOMMUNITY FORUM. Management of myotonic dystrophy. This information http://www.myotonicdystrophy.com/Management of DM.htm

HOME TABLE OF CONTENTS SEARCH DISCUSSION FORUMS ... CHAT ROOM International Myotonic Dystrophy Organization WEB BASED SUPPORT SITE AND COMMUNITY FORUM Sections General Information How do I Know if I have Myotonic Dystrophy? Sleeping Problems and Energy Levels Congenital Muscular Dystrophy ... Fatigue and DM 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

11. Management Of Myotonic Dystrophy Management of myotonic dystrophy. myotonic dystrophy Incurable but notUnmanageable . 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

12. OMIM ENTRY 160900 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://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?160900

13. 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

14. Myopathies Without EOM Weakness: Facioscapulohumeral + Myotonic Dystrophy myotonic dystrophy. myotonic dystrophy General 2 Genetic loci DM 1 98% offamilies l Myotonin protein kinase (DMPK) ; Chromosome 19q13.3; Dominant; 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 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 Low frequency (1% - 8%) regions Amerindians (Siberian Yakut; Cheyenne; Jemez Pueblo; Maya)

15. Myotonic Dystrophy: Pathology myotonic dystrophy. myotonic dystrophy Late changes. H E stain. Acid phosphataseFocal staining, Type I fiber predominance. myotonic dystrophy Early changes. 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

16. MYOTONIC DYSTROPHY myotonic dystrophy. DEFINITION Fragile X Syndrome CGG; MyotonicDystrophy - CTG; Huntington Disease - CAG; Kennedy's Disease - CAG; http://www.icondata.com/health/pedbase/files/MYOTONIC.HTM

Pediatric Database (PEDBASE) Last Updated: 1/02/95 MYOTONIC DYSTROPHY DEFINITION: A neuromuscular disorder characterized by extreme muscle weakness and generalized hypotonia. EPIDEMIOLOGY: incidence: ? age of onset: newborn risk factors: familial - autosomal dominant chrom.#: 19q13.2-13.3 gene: ? protein kinase antenatal history mother invariably has myotonic dystrophy obstetrical history frequent spontaneous abortions delay in 2nd stage of labour retained placenta post partum hemmorhage polyhydramnios decreased fetal movements prematurity PATHOGENESIS: 1. Background Myotonic Dystrophy (MD) belongs to a growing family of disorders where the genetic mutation involves unstable trinucleotide repeats (C_G): Disorder - Trinucleotide Repeat Fragile X Syndrome - CGG Myotonic Dystrophy - CTG Huntington Disease - CAG Kennedy's Disease - CAG Spinocerebellar Atrophy-I - CAG Machado-Joseph Disease - CAG in this family of disorders, the number of repeats tends to increase with succeeding generations ("genetic anticipation") in Myotonic Dystrophy: Dr. R. Korneluk at CHEO was the first to isolate the MD gene and an unstable part of the gene was identified characterized by numerous repeats of single trinucleotide sequences containing the bases cytosine, thymine, and guanine (CTG)

17. Myotonic Dystrophy myotonic dystrophy. disease involving the skeletal muscles of theupper extremities, shoulder girdle, neck and GI tract. symptoms 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 14 March 2001 Medical College of Wisconsin

18. 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

Neurology Home Programs for Medical Students Residency Programs Fellowship Programs ... Neurology Grand Rounds Clinical Trials: 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

19. Myotonic Dystrophy myotonic dystrophy. Dysregulation of human brain microtubuleassociatedtau mRNA maturation in myotonic dystrophy type 1. Hum Mol Genet. http://www.lille.inserm.fr/u422/myotonic_dystrophy.html

Myotonic dystrophy Biochemical signature of abnormal tau proteins in the brain of DM1 patients An abnormal profile of tau is observed in all brain areas. In some brains areas, aggregated tau proteins are found in degeneratng neurons Myotonic dystrophy type 1 (DM1) is a dominantly inherited multisystemic disorder caused by unstable expansion of CTG trinucleotide repeats in a gene encoding a serine/threonine protein kinase, named DMPK . The normal allele is polymorphic, ranging from 5 to 35 CTG repeats whereas in DM1 the pathologic allele expands from 50 to multiple thousands of CTG repeats. Expansion of the CTG repeat is correlated with the disease severity and with the anticipation of the age of onset . The clinical expression of DM1 is extremely variable and includes myotonia and progressive muscle weakness, frontal baldness, cataract, cardiac conduction defects, hypogonadism, endocrine deficiency and mental retardation . Neurofibrillary tangles (NFT) in the neocortex and in subcortical nuclei of DM1 patients have been described in several studies . NFT, as described in Alzheimer's disease, consists of intraneuronal accumulation of paired helical filaments (PHF) . They result from the aggregation of hyperphosphorylated microtubule-associated tau proteins , referred to as PHF-tau or pathological tau proteins . Tau protein belongs to the family of microtubule-associated proteins . They are essentially expressed in neurons where their essential function is to regulate the microtubule network. In the adult human brain, alternative splicing of exons 2, 3 and 10 of the single tau gene transcript gives six tau isoforms (Fig. 1A). Mutations in the tau gene are responsible for Frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17) . The mutations are distributed over exons 9 to 13 and in the introns flanking the exon 10. These mutations lead to alteration of tau protein binding to microtubule or affect the post-transcriptional maturation of tau pre-mRNA and thus changing the tau isoform stoichiometry of expression .

20. Myotonic Dystrophy myotonic dystrophy (Dystrophia myotonica, DM) is caused in the vast majority ofcases by expansions at a (CTG)n repeat sequence in the 3' untranslated region http://cmgs.org/BPG/Guidelines/1st_ed/dm.htm

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 Analysis 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.

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