21. Myotonic Dystrophy - Genetics Home Reference Where can I find additional information about myotonic dystrophy? What other names do people use for myotonic dystrophy? What if I still have specific http://ghr.nlm.nih.gov/condition=myotonicdystrophy

Home What's New Browse Handbook ... Search 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 References Myotonic dystrophy On this page: What is myotonic dystrophy? How common is myotonic dystrophy? ... help with understanding 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 changes are related to 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 inability to conceive a child (infertility). The features of this disorder can occur at any age, but usually develop during a person's twenties or thirties. One variation, called congenital myotonic dystrophy, can be noted at birth. The severity of these signs and symptoms varies widely among affected people, even among members of the same family. In general, the clinical features of type 2 myotonic dystrophy tend to be milder than those of type 1.

22. Long CTG Tracts From The Myotonic Dystrophy Gene Induce Deletions Long CTG Tracts from the myotonic dystrophy Gene Induce Deletions and Rearrangements during Recombination at the APRT Locus in CHO Cells http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

23. Myotonic Dystrophy, Type 1 - Genetics Home Reference What other names do people use for myotonic dystrophy, type 1? What if I still have specific questions about myotonic dystrophy, type 1? http://ghr.nlm.nih.gov/condition=myotonicdystrophytype1

Home What's New Browse Handbook ... Search Myotonic dystrophy, type 1 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 References Myotonic dystrophy, type 1 On this page: What is myotonic dystrophy, type 1? How common is myotonic dystrophy, type 1? ... help with understanding myotonic dystrophy, type 1? What is myotonic dystrophy, type 1? Myotonic dystrophy, type 1 is an inherited disorder of the muscles and other body systems. Type 1 myotonic dystrophy tends to be more severe than type 2, and the two forms are caused by mutations in different genes. Myotonic dystrophy, type 1 is a subtype of myotonic dystrophy Signs and symptoms of this disorder include progressive muscle wasting and weakness, particularly in the lower legs, hands, neck, and face. Affected individuals may also experience prolonged muscle contractions (myotonia), clouding of the lens of the eye (cataracts), heart abnormalities, balding, and inability to conceive a child (infertility). Not all affected people will experience all of these signs and symptoms, however. In most cases, the features of type 1 myotonic dystrophy appear by early adulthood. A variation of this disorder, congenital myotonic dystrophy, is evident at birth. The signs and symptoms, which can be severe or life-threatening, include generalized weakness, decreased muscle tone (hypotonia), club foot, difficulty with breathing, developmental delays, and mental retardation.

24. Home to the myotonic dystrophy Support Group website. Information about myotonic dystrophy can be found on the Information page. http://www.mdsguk.org/

a Welcome For Conference information see Services Page Support Group Information in French 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 currently being worked on. Please be patient with us until it is finished. In the meantime please contact the helpline number 0115 987 0080 or e-mail at mdsg@tesco.net. 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.

25. Myotonic Dystrophy a CHORUS notecard document about myotonic dystrophy. http://chorus.rad.mcw.edu/doc/01058.html

CHORUS Collaborative Hypertext of Radiology Musculoskeletal system About CHORUS Search Feedback 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 Related CHORUS documents: megacolon aneurysmal bone cyst dermoid / epidermoid tumor Hirschsprung disease ... osteochondrosis dissecans Search for related articles: AJR American Journal of Roentgenology PubMed : index to biomedical literature ... Medical College of Wisconsin

26. Myotonic Dystrophy: Pathology myotonic dystrophy (DM1) Mild changes. Fiber size variation myotonic dystrophy (DM2). H E stain, ATPase. Pyknotic nuclear clumps http://www.neuro.wustl.edu/neuromuscular/pathol/myotdyspath.htm

MYOTONIC DYSTROPHY DM1: Chronic changes DM1: Mild changes Myotonic dystrophy (DM1): Chronic changes Numerous internal nuclei: Often in longitudinal chains Myopathic changes: Fiber size variation Congo red stain Numerous internal nuclei: Often in longitudinal chains Gomori trichrome stain NADH stain Internal nuclei Disordered internal architecture Acid phosphatase stain Acid phosphatase stain Acid phosphatase positive granules in fibers Myotonic dystrophy (DM1): Mild changes Fiber size variation Internal nuclei in some fibers Smaller type I (darker) fibers Disordered internal architecture Myotonic dystrophy (DM2) ATPase Pyknotic nuclear clumps Small fibers of both types NADH stain Esterase Pyknotic nuclear clumps stain darkly Return to Myotonic dystrophy Return to Return to Neuromuscular syndromes Return to Neuromuscular home page

27. Myopathies Without EOM Weakness: Facioscapulohumeral + Myotonic Dystrophy myotonic dystrophy CTG repeat near, 5 of, enhancer element for SIX5 Cell localization of muscleblind proteins in myotonic dystrophies 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 Genetic loci Differential diagnosis: DM1 vs DM2 Myotonic dystrophy 1 (DM 1) Clinical features Disease mechanisms Epidemiology Genetic testing ... Laboratory features Myotonin protein kinase (DMPK) Gene Protein Pathology DM 2 (PROMM) ... Pathology Also see: Review U Wash 1st picture of myotonic dystrophy Myotonic Dystrophy: General 3 Genetic loci DM 1 : 98% of families l Myotonin protein kinase (DMPK) ; Chromosome 19q13.3; Dominant DM 2 (PROMM) l Zinc finger protein 9 (ZNF9) ; Chromosome 3q21; Dominant l Chromosome 15q21-q24; 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 From: Neil Miller, Johns Hopkins Christmas Tree Cataracts 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 3 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

28. Muscular Dystrophy Campaign Factsheet describing myotonic dystrophy, its inheritance patterns, causes, future advances, problems and management of the condition. http://www.muscular-dystrophy.org/information_resources/factsheets/medical_condi

About us News About your condition Research ... Community Accessibility Print Home Donate Sitemap Contact Myotonic dystrophy Written by Professor Peter S Harper, University of Wales College of Medicine, Cardiff for the Muscular Dystrophy Campaign You can download this factsheet as a Word document: Myotonic dystrophy factsheet Contents: What is myotonic dystrophy? How is myotonic dystrophy inherited? What is the cause ? ‘PROMM’ (proximal myotonic myopathy) and type 2 myotonic dystrophy. ... Support Group What is 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 people with myotonic dystrophy may have: Muscle types involved are usually in the face, jaw and neck area; the large, weight-bearing muscles of the legs and thighs are much less affected Rate of deterioration is commonly slow, with little change over a long period; some people never have significant muscle disability Muscle stiffness or 'myotonia' is characteristic, especially affecting the hands

29. Muscular Dystrophy Campaign Factsheet describes myotonic dystrophy, its rarity, symptoms, diagnosis, inheritance patternsand treatment. http://www.muscular-dystrophy.org/information_resources/factsheets/medical_condi

About us News About your condition Research ... Community Accessibility Print Home Donate Sitemap Contact Congenital myotonic dystrophy Written by Professor Harper, The University College of Wales, for the Muscular Dystrophy Campaign. You can download this factsheet as a Word document Congenital myotonic dystrophy factsheet Contents: What is congenital myotonic dystrophy? How common is it? What are the symptoms? How early is diagnosis made? ... Support group What is congenital myotonic dystrophy? Congenital myotonic dystrophy is the early childhood form of myotonic dystrophy (also known as Steinert's disease). Usually in myotonic dystrophy the symptoms begin to show in childhood or later in life, but symptoms of congenital myotonic dystrophy are evident from birth. It occurs only when the mother already has myotonic dystrophy (although she may not be aware of this) and she passes it on to the child in a more severe form. 'Congenital' means 'from birth' because the condition is usually identified at birth or soon after; 'myotonic' means 'involving muscle stiffness'; and 'dystrophy' means 'muscle wasting and weakness'. (Congenital myotonic dystrophy is not the same as congenital myopathy or congenital muscular dystrophy. For more information about these or other conditions please contact the Muscular Dystrophy Campaign’s Information Officers.)

30. Myotonic Dystrophy Myotonic Muscular Dystrophy Fact Sheet, MDA Australia; Researchers Find myotonic dystrophy Gene, Human Genome News; myotonic dystrophy Making an Informed http://www.kumc.edu/gec/support/myotonic.html

Myotonic Dystrophy Muscular Dystrophy Association , USA 3300 E. Sunrise Dr Tucson, AZ 85718-3208 Phone: (800) 572-1717 Fax: (602) 529-5300 E-mail: mda@mdausa.org Web site: http://www.mdausa.org/ Muscular Dystrophy Association of Australia GPO Box 9932 Melbourne 3001, Australia E-mail: bms@mda.org.au Phone: 1.800.656.MDA, or 61.3.9370.0477 Fax: 61.3.9370.0393 Web site: http://www.mda.org.au Also See: Myotonic Muscular Dystrophy Fact Sheet , MDA Australia Researchers Find Myotonic Dystrophy Gene , Human Genome News Myotonic Dystrophy: Making an Informed Choice About Genetic Testing , Genetic Testing for Neurological Conditions, Medical Genetics and Neurology, University of Washington, Seattle, WA, USA Myotonic Dystrophy , Mini-MIM To locate a genetic counselor or clinical geneticist: Professional Genetics Societies Genetic clinics, centers, departments Genetic Societies Clinical Resources ... Search Genetics Education Center Debra Collins, M.S. CGC , Genetic Counselor, dcollins@kumc.edu This site subscribes to the principles of the HONcode (Health on the Net, Code of Conduct for Medical and Health Web Sites)

31. 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 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".

32. Myotonic Dystrophy myotonic dystrophy is the most common form of adult onset muscular dystrophy Congenital myotonic dystrophy can be associated with a very severe disease http://www.ggc.org/Diagnostics/Molecular/myotonic_dystrophy.htm

Myotonic Dystrophy Who to Contact Site Index Search GGC Website var MenuLinkedBy='AllWebMenus [4]', awmBN='622'; awmAltUrl=''; Myotonic Dystrophy Specimen requirements : 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. If necessary, ACD solution A Vacutainer tubes (yellow top) may be substituted. Prenatal studies require two confluent T-25 flasks containing cultured CVS material or amniocytes. A maternal blood sample is also requested for prenatal analysis. Transport : Please contact the Molecular Diagnostic Laboratory Coordinator (1-800-473-9411) for shipping information. The specimen should be kept at room temperature and delivered via overnight shipping. FedEx delivery is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on a Friday can be safely designated for Monday delivery. However, Saturday delivery is available. Analysis standards : Analysis will be completed within 14 days from sample receipt. The quality and interpretation of test results are assessed by the laboratory director. Technical staff independently assess the quality and interpretation of the test. The Greenwood Genetic Center Molecular Diagnostic Laboratory is CLIA certified and actively participates in CAP proficiency surveys.

33. Myotonic Dystrophy, 3rd Edition myotonic dystrophy affects every part of the body and this book is Diagnostic Investigations in myotonic dystrophy Muscle Pathology and Neurophysiology http://www.elsevier-international.com/catalogue/title.cfm?ISBN=0702021520

34. Introduction: Myotonic Dystrophy - WrongDiagnosis.com Introduction to myotonic dystrophy as a medical condition including symptoms, diagnosis, misdiagnosis, treatment, prevention, and prognosis. http://www.wrongdiagnosis.com/m/myotonic_dystrophy/intro.htm

Home Symptoms Diseases Risks ... Diseases Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Myotonic Dystrophy Next sections Basic Summary for Myotonic Dystrophy Prognosis of Myotonic Dystrophy Types of Myotonic Dystrophy Symptoms of Myotonic Dystrophy ... Treatments for Myotonic Dystrophy Next chapters: Friedreich's ataxia Spinocerebellar Ataxia Machado-Joseph Disease Dentatorubral Pallidoluysian Atrophy ... Feedback Introduction: Myotonic Dystrophy Myotonic Dystrophy: Muscle disorder with abnormally slow relaxation of the muscles. Myotonic Dystrophy: Myotonia congenita is a genetic, neuromuscular disorder characterized by the slow relaxation of the muscles. Symptoms may include muscle stiffness and hypertrophy (enlargement). The disorder is caused by a genetic mutation involving the chloride channel of the muscles. The muscle stiffness, which particularly occurs in the leg muscles, may be enhanced by cold and inactivity, and is often relieved by exercise. Researching symptoms of Myotonic Dystrophy: Further information about the symptoms of Myotonic Dystrophy is available including a list of symptoms of Myotonic Dystrophy , or alternatively return to research other symptoms in the symptom center Treatments for Myotonic Dystrophy: Various information is available about treatments available for Myotonic Dystrophy , or research treatments for other diseases.

35. Symptoms Of Myotonic Dystrophy - WrongDiagnosis.com Symptoms of myotonic dystrophy including signs, symptoms, incubation period, duration, and correct diagnosis. http://www.wrongdiagnosis.com/m/myotonic_dystrophy/symptoms.htm

Home Symptoms Diseases Risks ... Myotonic Dystrophy Search our medical database Subscribe to our free Newsletter sample Send this page to a friend Condition Lists By Organ By Symptom By Class By Prevalence ... List A-Z Current chapter: Myotonic Dystrophy Next sections Treatments for Myotonic Dystrophy Doctors and Medical Specialists for Myotonic Dystrophy Articles about Myotonic Dystrophy Glossary for Myotonic Dystrophy Next chapters: Friedreich's ataxia Spinocerebellar Ataxia Machado-Joseph Disease Dentatorubral Pallidoluysian Atrophy ... Feedback Symptoms of Myotonic Dystrophy General information about symptoms of Myotonic Dystrophy: The symptom information on this page attempts to provide a list of some possible symptoms of Myotonic Dystrophy. This symptom information has been gathered from various sources, may not be fully accurate, and may not be the full list of symptoms of Myotonic Dystrophy. Furthermore, symptoms of Myotonic Dystrophy may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of symptoms and whether they are indeed symptoms of Myotonic Dystrophy. List of symptoms of Myotonic Dystrophy: The list of symptoms mentioned in various sources for Myotonic Dystrophy includes: Muscle stiffness Muscle hypertrophy More symptoms of Myotonic Dystrophy: In addition to the above information, to get a full picture of the possible symptoms of this condition and its related conditions, it may be necessary to examine symptoms that may be caused by complications of Myotonic Dystrophy, underlying causes of Myotonic Dystrophy, associated conditions for Myotonic Dystrophy, risk factors for Myotonic Dystrophy, or other related conditions.

36. CMGS-Myotonic Dystrophy/17.12.98 myotonic dystrophy (DM) is an autosomal dominant adult onset neuromuscular In myotonic dystrophy the repeat is polymorphic but stable within the normal http://www.ich.ucl.ac.uk/cmgs/dm98.htm

MRCPath Preparation Course 1998 - Dynamic Mutations Myotonic Dystrophy (DM) Clinical Presentation of Classical DM DM patients suffer from progressive muscle stiffness, and also muscle weakness and wasting. The stiffness is attributable to myotonia, which is defined as the 'repetitive contraction of a muscle, and the consequent impaired ability to relax the muscle'. Physiologically this is due to trains of repetitive action potentials in response to a contraction. Myotonia often diminishes with repeated contractions of the same muscle, which is known as the 'warm-up phenomenon'. Myotonia is present in a group of other diseases called the myotonias and periodic paralyses. All are caused by derangements in the electrical excitability of the sarcolemma, and mutations within coding regions of ion-channel genes have been identified as the underlying molecular defect for many of them. The molecular basis of the myotonia in DM is at present less clear, although there is evidence of aberrant membrane excitability, as discussed later. DM patients also suffer from muscle weakness and wasting, which is most marked in the cranial musculature and distal limb muscles. Patients show bilateral ptosis, weakness of muscles of facial expression, and jaw muscle weakness resulting in typical facies. The muscles most frequently involved are the facial muscles, the elevators of the eyelids, the temporalis and masseter, sternocleidomastoid, the distal muscles of the forearm and the dorsiflexors of the feet. With further disease progression the diaphragm, intercostal muscles, intrinsic muscles of the hands and feet, the palatal and pharyngeal muscles, the tongue, and the extraocular muscles may also be affected.

37. CMGS-Myotonic Dystrophy/14.12.99 myotonic dystrophy (DM) is the commonest muscular dystrophy of adult life and affects The myotonic dystrophy gene locus and the underlying mutation were http://www.ich.ucl.ac.uk/cmgs/dm99.htm

Myotonic Dystrophy (Dystrophia Myotonica) Myotonic dystrophy (DM) is the commonest muscular dystrophy of adult life and affects 1 in 8,000 people worldwide although there are continental variations in incidence. The incidence varies from 1 in 475 in a region of Quebec to about 1 in 25,000 in European populations and is extremely rare in African populations. It is inherited as an autosomal dominant disease and is a heterogeneous disorder affecting a wide range of systems. The features of DM include: myotonia muscle wasting in the distal extremities, head and neck cataracts hypogonadism frontal balding ECG changes difficulty in swallowing and symptoms of reduced intestinal motility. The disease is broadly classified into three clinical groups: minimally affected or late onset classical adult onset and severe congenital onset . People with the mildest form of DM often go undiagnosed and usually cataracts and minimal muscle involvement are the only visible sign of the condition. The classical form of DM usually develops in early adult life and is characterised by progressive muscle stiffness and weakness. Congenital DM (CDM) is the most severe form of the disease and is almost always inherited from affected mothers. It presents in newborn babies who suffer from respiratory distress, hypotonia, motor and mental retardation and facial diplegia. Diagnosis can be difficult if the family history is not known because muscle wasting may not be apparent and cataracts and myotonia are absent. CDM patients who survive the neonatal period eventually learn to walk but 60-70% are mentally retarded. By the age of 10 they develop myotonia and in adulthood they develop the additional complications associated with adult onset disease.

38. OUP: Myotonic Dystrophy: The Facts: Harper myotonic dystrophy is part of the group of muscular dystrophies. Written by the world authority on myotonic dystrophy, Peter Harper, the book covers a http://www.oup.co.uk/isbn/0-19-852586-9

NEVER MISS AN OXFORD SALE (SIGN UP HERE) VIEW BASKET Quick Links About OUP Career Opportunities Contacts Need help? oup.com Search the Catalogue Site Index American National Biography Booksellers' Information Service Children's Fiction and Poetry Children's Reference Dictionaries Dictionary of National Biography Digital Reference English Language Teaching Higher Education Textbooks Humanities International Education Unit Journals Law Medicine Music Online Products Oxford English Dictionary Reference Rights and Permissions Science School Books Social Sciences Very Short Introductions World's Classics Advanced Search UK and Europe Book Catalogue Help with online ordering How to order Postage Returns policy ... Table of contents Join the OED-BBC Wordhunt Visit www.oed.com for more details Myotonic Dystrophy: The Facts Peter S Harper Publication date: 27 June 2002 126 pages, 2 figures and numerous tables, 196mm x 129mm Series: The Facts Search for titles in the same series Ordering Individual customers order by phone, post, or fax Teachers in UK and European schools (and FE colleges in the UK): order by phone, post, or fax

39. Myotonic Dystrophy CHC Wausau Hospital s Medical Library and Patient Education Center provides research services and healthcare information to physicians, 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.

40. Autosomal Dominant: Myotonic Dystrophy Detailed information on myotonic dystrophy, one types of autosomal dominant condition. http://www.healthsystem.virginia.edu/uvahealth/peds_genetics/autosom.cfm

[ Skip Navigation ] Health System Home For Health Answers Healthcare Professionals ... Advanced Search Health System Search Search for Information People UVa Home Health System News Health System Events (all) Health System Publications ... Making a Gift Topics Adolescent Medicine Allergy/Asthma/Immunology Blood Disorders Burns Cancer Common Injuries/Poison Tips Craniofacial Anomalies Dermatology Diabetes/Endo/Metabolism Eye Care Genitourinary/Kidney High-Risk Newborn High-Risk Pregnancy Infectious Diseases Medical Genetics Mental Health Nervous System Disorders Normal Newborns Oral Health Orthopaedics Pediatric Surgery Respiratory Disorders Terminal Illness in Children Transplantation UVa Health Topics A to Z FIND A DOCTOR High-Risk Obstetrics Medical Genetics Reproductive Genetics ... CLINICAL TRIALS Search This Site Autosomal Dominant: Myotonic Dystrophy Genes are inherited from our biological parents in specific ways. One of the basic patterns of inheritance of our genes is called autosomal dominant inheritance. What is autosomal dominant inheritance? Autosomal dominant inheritance means that the gene is located on one of the autosomes (chromosome pairs 1 through 22). This means that males and females are equally affected, and "dominant" means that only one gene is necessary to have the trait. When a parent has a dominant trait, there is a 50 percent chance that any child they have will also inherit the trait:

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