41. Myotonic Dystrophy MAIN SEARCH INDEX. myotonic dystrophy. myotonic dystrophy is a progressive disease in which the muscles are weak and are slow to relax after contraction. http://www.ehendrick.org/healthy/000943.htm

MAIN SEARCH INDEX Myotonic dystrophy Definition Description Causes and symptoms Diagnosis ... Resources Definition Myotonic dystrophy is a progressive disease in which the muscles are weak and are slow to relax after contraction. Description Myotonic dystrophy (DM), also called dystrophia myotonica, myotonia atrophica, or Steinert disease, is a common form of muscular dystrophy . DM is an inherited disease, affecting males and females approximately equally. About 30,000 people in the United States are affected. Symptoms may appear at any time from infancy 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 severe form of DM, congenital myotonic dystrophy, may appear in newborns of mothers who have DM. Congenital means that the condition is present from birth. DM occurs in about 1 of 20,000 people and has been described in people from all over the world. Causes and symptoms The most common type of DM is called DM1 and is caused by a mutation in a gene called myotonic dystrophy protein kinase (DMPK). The DMPK gene is located on chromosome 19. When there is a mutation in this gene, a person develops DM1. The specific mutation that causes DM1 is called a trinucleotide repeat expansion.

42. Myotonic Dystrophy myotonic dystrophy. myotonic dystrophy is a progressive disease that keeps affected muscles from relaxing once they have been contracted or tightened. http://www.chclibrary.org/micromed/00057650.html

Main Search Index Definition Description Causes ... Resources Myotonic dystrophy Definition Myotonic dystrophy is a progressive disease that keeps affected muscles from relaxing once they have been contracted or tightened. Description 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 Causes 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.

43. Disorder Information - Myotonic Dystrophy Steinert's Disease myotonic dystrophy Steinert s disease. What is myotonic dystrophy? Who can be affected with myotonic dystrophy? Anyone can be affected by myotonic dystrophy. http://www.mdac.ca/english/disorder-info/disorder-info-04.htm

Myotonic Dystrophy Steinert's disease What is myotonic dystrophy? Myotonic dystrophy, also known as Steinert's disease, is the most common form of muscle disease, affecting approximately one person in 8,000 worldwide. It is a disorder characterized by progressive muscle weakness and wasting and by myotonia (difficulty in relaxing the muscles after they have been contracted). It is a multisystem disease, typically involving a wide range of other tissues as well as muscle. Who can be affected with myotonic dystrophy? Anyone can be affected by myotonic dystrophy. It is a genetic disorder passed on to children of either either sex by one parent who has the disorder. Myotonic dystrophy can affect people at any age. The majority of people are diagnosed by the time they reach their early twenties. With each successive generation, the symptoms of myotonic dystrophy seem to get more severe, and the age at which they appear gets younger. This tendency is known as anticipation. What are the different forms of myotonic dystrophy?

44. Myotonic Dystrophy Volume 37, 3rd Edition myotonic dystrophy Volume 37, 3rd Edition Major Problems in Neurology 37 Peter Harper MA DM FRCP, Professor and Consultant in Medical Genetics, University of http://www.harcourt-international.com/catalogue/title.cfm?ISBN=0702021520

45. Modafinil ( Provigil ) For Myotonic Dystrophy Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy by Talbot K, Stradling J, Crosby J, HiltonJones D. Department of http://www.modafinil.com/myotonicdystrophy.html

Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy by Talbot K, Stradling J, Crosby J, Hilton-Jones D. Department of Clinical Neurology, University of Oxford, Radcliffe Infirmary, Woodstock Road, OX2 6HE, Oxford, UK Neuromuscul Disord . 2003 Jun;13(5):357-64. ABSTRACT P ADHD Narcolepsy Modafinil: review Modafinil: structure ... The Good Drug Guide The Responsible Parent's Guide To Healthy Mood Boosters For All The Family

46. Modafinil ( Provigil ) In The Treatment Of Myotonic Dystrophy Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy by MacDonald JR, Hill JD, Tarnopolsky MA. http://www.modafinil.com/myotonic-dystrophy.html

Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy by MacDonald JR, Hill JD, Tarnopolsky MA. Department of Medicine, McMaster University Medical Center, Hamilton, and Draxis Health Inc., Mississauga, Ontario, Canada. Neurology 2002 Dec 24;59(12):1876-80 ABSTRACT O BJECTIVE: To evaluate the potential of modafinil in reducing excessive daytime somnolence (EDS) and enhancing indexes of quality of life and mood in patients with myotonic dystrophy (DM). METHODS: Forty patients with DM were randomized to receive modafinil and placebo for 14 days each, using a double-blind, cross-over design. Before and after each trial, subjects completed handgrip strength testing, spirometry, and quality-of-life measures (RAND). On days 7 and 14, each subject completed the Epworth Sleepiness Scale (ESS), the Stanford Sleepiness Scale (SSS), and the Profile of Mood States (POMS). RESULTS: ESS scores were lower while taking modafinil (mean 248 mm; 95% confidence limit 220 to 276 mm) as compared with placebo (309 mm; 281 to 336 mm) (p < 0.001). Mean SSS scores were also lower during the modafinil trial (3.05; 2.77 to 3.33) than during the placebo trial (3.45; 3.18 to 3.71) (p

47. Myotonic Dystrophy -- ECureMe.com myotonic dystrophy, myotonic dystrophy is a disorder in which the relaxation of the muscles is delayed due to the defect of the muscle on the cell membrane. http://www.ecureme.com/emyhealth/data/Myotonic_Dystrophy.asp

DisplayAd("468","60"); Select a Health Topic ADD/ADHD Allergy Alternative Medicine Arthritis Asthma Beyond Dieting Body Aches and Pains Breast Cancer Cancer Awareness Cardio Health Children's Health Colon Cancer Contraception COPD/Emphysema Dental Health Diabetes Elder Care Emergency Room Epilepsy Erectile Dysfunction Eye Care Fertility Fitness Gastrointestinal Health Glands and Hormones Gynecologic Health Hair Loss Headache Healthcare Today Healthy Aging HIV and AIDS Infectious Diseases Kidney Health Leukemia Liver Health Lung Cancer Lymphoma Multiple Sclerosis Men's Health Mental Health Nutrition Osteoporosis Parkinson's Disease Sexual Health Skin Health Sleep Disorders Special Events Stroke Surgeries and Procedures Teen Health Thyroid Health Urologic Health Vascular Disease Women's Health Workplace Health June 2, 2004 Resource Links Physician Search Your Questions, E-mail Doctor ... Hospital Directory Myotonic Dystrophy more about Myotonic Dystrophy Myotonic dystrophy is a disorder in which the relaxation of the muscles is delayed due to the defect of the muscle on the cell membrane. Myotonia refers to the delayed relaxation following a muscle contraction. The onset age is usually young adults, but it can occur as a congenital form (congenital myotonic dystrophy) or after 40-50 years old.

48. Myotonic Dystrophy Support Group myotonic dystrophy Support Group. Charity Number 1073211. ANNUAL CONFERENCE. What is myotonic dystrophy? myotonic dystrophy is one of the Muscular Dystrophies. http://www.nottscity.co.uk/mdsg/

Myotonic Dystrophy Support Group Charity Number: 1073211 ANNUAL CONFERENCE Myotonic Dystrophy Support Group Annual Conference Crowne Plaza Hotel Liverpool Saturday 20 th May 2000 Cost: £15 per adult including buffet lunch Overnight accommodation - Special rates available Crèche and young peoples activities provided. Fax: +44 (0) 115 987 6462 Tel: +44 (0) 115 987 0080 Email: mdsg@tesco.net Leaflets Life without a way to smile What is Myotonic Dystrophy? Myotonic Dystrophy is one of the Muscular Dystrophies. It is the myotonia, which is muscle stiffness. Weakness and wasting of the muscles may also occur. The myotonia or stiffness, especially in the hands, is characteristic. Other parts of the body are frequently involved, and symptoms may include cataracts, disturbance of heart rhythm, hormonal problems, learning difficulties in children and extreme tiredness. Who Are We? We are a self help group, willing to provide support to families affected by the neuromuscular condition Myotonic Dystrophy. The group is affiliated to the Muscular Dystrophy Group. As volunteers, we offer help and support to one another by telephone links and correspondence. We are in the process of establishing a network of contact families which will enable us to put families in touch with one another locally if they so wish.

49. MYOTONIC DYSTROPHY Features Listed For myotonic dystrophy. McKusick 160900. Cataract; Club foot/hindfoot, varus; Coloboma of retina/choroid; Conjunctivitis; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1192

50. Www.vtmednet.org/~m145037/vhgi_mem/myodys/myodys_head.htm PILS Self Help Group S146; myotonic dystrophy Support Group myotonic dystrophy Support Group. 175A Carlton The Support Group has information which deals specifically with myotonic dystrophy. This information http://www.vtmednet.org/~m145037/vhgi_mem/myodys/myodys_head.htm

51. Myotonic Dystrophy Information Diseases Database myotonic dystrophy,Steinert s myotonia atrophica,CurschmannBatten-Steinert syndrome,Dytrophia myotonica, Disease Database Information. http://www.diseasesdatabase.com/ddb8739.htm

Diseases Database Index Sponsors Contact ... Previous Page Myotonic dystrophy Information Search 4 synonyms or equivalents were found. Myotonic dystrophy aka/or Steinert's myotonia atrophica aka/or Curschmann-Batten-Steinert syndrome aka/or Dytrophia myotonica may cause or feature (Follow link for list) may be a risk factor for (Follow link for list) may be associated with (Follow link for list) may be allelic with (Follow link for list) belong(s) to the category of (Follow link for list) Myotonic dystrophy: Definition(s) via UMLS Code translations and terms via UMLS Myotonic dystrophy: specific sites Send Myotonic dystrophy to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-03 01:01:06 Metadata Updated 2004-05-22

52. Myotonic Dystrophy - Medical Dictionary Definitions Of Popular Medical Terms MedicineNet Home MedTerms medical dictionary AZ List myotonic dystrophy. Advanced Search. myotonic dystrophy is not one genetic entity. http://www.medterms.com/script/main/art.asp?articlekey=4494

53. Myotonic Dystrophy Definition Of Myotonic Dystrophy. What Is Myotonic Dystrophy? Definition of myotonic dystrophy in the Dictionary and Thesaurus. Provides examples from classic literature, search by definition of myotonic dystrophy. http://www.thefreedictionary.com/myotonic dystrophy

Dictionaries: General Computing Medical Legal Encyclopedia myotonic dystrophy Word: Word Starts with Ends with Definition Noun myotonic dystrophy - a severe form of muscular dystrophy marked by generalized weakness and muscular wasting that affects the face and feet and hands and neck; difficult speech and difficulty with the hands that spreads to the arms and shoulders and legs and hips; the onset can be any time from birth to middle age and the progression is slow; inheritance is autosomal dominant myotonia atrophica myotonic muscular dystrophy Steinert's disease dystrophy ... muscular dystrophy - any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles Legend: Synonyms Related Words Antonyms Some words with "myotonic dystrophy" in the definition: autosomal recessive defect autosomal recessive disease Becker muscular dystrophy degenerative disorder ... Steinert's disease Previous General Dictionary Browser Next Myotis Myotis leucifugus Myotis velifer ... Myrialiter Full Dictionary Browser myositis trichinosa Myosotis Myosotis (enc.)

54. MYOTONIC DYSTROPHY myotonic dystrophy. GENERAL INFORMATION What is it? Care There is no cure for myotonic dystrophy. The disease cannot be stopped or turned around. http://www.medformation.com/ac/mm_qdis.nsf/qd/nd1625g.htm

Allina.com Careers Help Privacy ... care you are here: knowledge Allina Hospitals Patient Education MYOTONIC DYSTROPHY GENERAL INFORMATION: What is it? Myotonic (mi-o-ton-ik) dystrophy (dih-strow-fee) is one of a group of diseases called muscular dystrophy. They are genetic diseases that effect muscles all over your body. A genetic disease is one that you are born with and that you may inherit from your family. Myotonic dystrophy, which is also called "DM" or Steinert's disease, is the most common type of adult muscular dystrophy. DM makes your muscles get weaker and smaller. Your muscles may also get very stiff as you use them. It then takes awhile for the muscles to relax. This is called myotonia (mi-o-to-nee-uh) and is common in the hands. Myotonic dystrophy effects more than just muscles. It causes problems in many parts of your body like the heart, eyes, brain, and more. Both men and women can get DM. People usually get DM when they are 20 to 40 years old. But, it is possible for younger children to get DM. There is no cure for DM but the symptoms can be treated. And, it is possible to live a normal life span even if you have DM. But, you may die sooner if you have very bad myotonic dystrophy. Causes: All of the muscular dystrophies are caused by problems with the information in genes and chromosomes. A gene is a little piece of information that tells your body what to do or what to make. A chromosome is like a package that holds all the genes.

55. Genetics Research: Myotonic Dystrophy myotonic dystrophy. Dunne, PW, Walch, ET, and Epstein, HF Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition. 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.

56. MYOTONIC DYSTROPHY myotonic dystrophy. Specialty Definition myotonic dystrophy. Domain, Definition. Medicine. Top. Synonym myotonic dystrophy. Synonym by domain myotonic (medicine). http://www.websters-online-dictionary.org/definition/english/My/Myotonic Dystrop

Philip M. Parker, INSEAD. MYOTONIC DYSTROPHY Specialty Definition: MYOTONIC DYSTROPHY Domain Definition Medicine A condition presenting muscle weakness and wasting which may be progressive. Source: European Union. references Source: compiled by the editor from various references ; see credits. Top Synonym: MYOTONIC DYSTROPHY Synonym by domain: myotonic (medicine). Top Crosswords: MYOTONIC DYSTROPHY Specialty definitions using "MYOTONIC DYSTROPHY" Trinucleotide Repeat Expansion references Top Commercial Usage: MYOTONIC DYSTROPHY Domain Title Books Myotonic Dystrophy reference (more book examples) Source: compiled by the editor from various references ; see credits. Top Non-Fiction Usage: MYOTONIC DYSTROPHY Subject Topic Quote Health NIAMS is also supporting planning grants for clinical trials, including one on myotonic dystrophy references Scientists have found some clues, both for myotonic dystrophy and triplet repeat disorders in general, and research is continuing. ( references The registry, based at the University of Rochester, will recruit and classify patients, and store medical and family history data for individuals with clinically diagnosed FSHD and myotonic dystrophy references Source: compiled by the editor from ICON Group International, Inc.

57. TheFetus.net - Myotonic Dystrophy-Raúl Martínez, José G. Andrade myotonic dystrophy. Br. Med J 1960; I 12848 3- Fried, K.; Pajewski, M.; Mundel, G.; Caspi, E.; Spira, R. Thin ribs in neonatal myotonic dystrophy. Clin. http://www.thefetus.net/page.php?id=1157

58. UNSW Embryology-OMIM MYOTONIC DYSTROPHY MUSCULOSKELETAL DEVELOPMENT. Embryology Home Page. myotonic dystrophy. Select Entry from OMIM. CLINICAL FEATURES. ADULTONSET myotonic dystrophy. GENERAL. http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/skmus/OMIM-310200.htm

UNSW Embryology MUSCULOSKELETAL DEVELOPMENT Embryology Home Page MYOTONIC DYSTROPHY Select Entry from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Back to UNSW Embryology-Musculoskeletal Notes List of OMIM search results "muscular dystrophy" *160900 DYSTROPHIA MYOTONICA; DMPK Alternative titles; symbols DYSTROPHIA MYOTONICA; DM MYOTONIC DYSTROPHY STEINERT DISEASE DM-KINASE, INCLUDED; DMK, INCLUDED DM PROTEIN KINASE, INCLUDED MYOTONIN-PROTEIN KINASE, INCLUDED MYOTONIC DYSTROPHY PROTEIN KINASE, INCLUDED; MDPK, INCLUDED TABLE OF CONTENTS DESCRIPTION CLINICAL FEATURES OTHER FEATURES INHERITANCE ... "Nomenclature Database" Gene Map Locus: Note: pressing the symbol will find the citations in MEDLINE whose text most closely matches the text of the preceding OMIM paragraph, using the Entrez MEDLINE neighboring function.

59. Disease Directory : Neurological Disorders : Muscle Diseases : Myotonic Dystroph AAEM Patient Resources - myotonic dystrophy - Patient Resources - myotonic dystrophy. ?. Membership Directory. Writer s Cramp. myotonic dystrophy. http://www.diseasedirectory.net/Neurological_Disorders/Muscle_Diseases/Myotonic_

Wednesday, June 02, 2004 Neurological Disorders Muscle Diseases Isaacs Syndrome Muscular Dystrophies ... Muscle Diseases : Myotonic Dystrophy AAEM - Patient Resources - Myotonic Dystrophy - Patient Resources - Myotonic Dystrophy. [?]. Membership Directory. Practice Issues / Advocacy. Werdnig-Hoffman Disease. Writer's Cramp. Myotonic Dystrophy. GeneClinics - A summary of myotonic dystrophy, the diagnosis, clinical description, differential diagnosis, management, genetic counseling and resources. Genetics research: myotonic dystrophy - Myotonic Dystrophy. Dunne, PW, Walch, ET, and Epstein, HF Phosphorylation reactions of recombinant human myotonic dystrophy protein kinase and their inhibition. Introduction: Myotonic Dystrophy - WrongDiagnosis.com - Introduction to Myotonic Dystrophy as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis. Management of Myotonic Dystrophy - Management of Myotonic Dystrophy. Myotonic Dystrophy Incurable but not Unmanageable". The incidence of Myotonic Dystrophy is 1 in 8000. Myotonic Dystrophy - [ Home ] [ Up ]. Click Here! Myotonic Dystrophy. Click Here! Music-e.net Just-recipes.net EnvyMag.com Scholarships-4u.com Shesearch

60. Myotonic Dystrophy myotonic dystrophy. A threegeneration family affected with myotonic dystrophy. The degree of severity increases in each generation. http://medgen.genetics.utah.edu/photographs/pages/myotonic_dystrophy.htm

Myotonic dystrophy view 666 KB version view 10 KB version A three-generation family affected with myotonic dystrophy. The degree of severity increases in each generation. The grandmother (right) is only slightly affected, but the mother (left) has a characteristic narrow face and somewhat limited facial expression. The baby is more severely affected and has the facial features of children with neonatal-onset myotonic dystrophy, including an open, triangular-shaped mouth. The infant has more than 1000 copies of the trinucleotide repeat, whereas the mother and grandmother each have approximately 100 repeats. Examinations Photographs Movies Links ... noJava Home

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