21. Duchenne Muscular Dystrophy DUCHENNE MUSCULAR DYSTROPHY (DMD) is one of a group of muscular dystrophies characterized by the enlargement of muscles. DMD is http://www.ncbi.nlm.nih.gov/disease/DMD.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 DMD on the X chromosome Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information Muscular Dystrophy Association for Research and Care news Parent Project Muscular Dystrophy Research for all DUCHENNE MUSCULAR DYSTROPHY (DMD) is one of a group of muscular dystrophies characterized by the enlargement of muscles. DMD is one of the most prevalent types of muscular dystrophy and is characterized by rapid progression of muscle degeneration which occurs early in life. All are X-linked and affect mainly males - an estimated 1 in 3,500 boys worldwide. The gene for DMD, found on the X chromosome, encodes a large protein - dystrophin. Dystrophin is required inside muscle cells for structural support: it is thought to strengthen muscle cells by anchoring elements of the internal cytoskeleton to the surface membrane. Without it, the cell membrane becomes permeable, so that extracellular components enter the cell, increasing the internal pressure until the muscle cell 'explodes' and dies. The subsequent immune response can add to the damage. A mouse model for DMD exists, and is proving useful for furthering our understanding on both the normal function of dystrophin and the pathology of the disease. In particular, initial experiments that increase the production of utrophin, a dystrophin relative, in order to compensate for the loss of dystrophin in the mouse are promising, and may lead to the development of effective therapies for this devastating disease.

22. EMedicine - Congenital Muscular Dystrophy : Article By Glenn Lopate, MD Banker BQ The congenital muscular dystrophies. Myology 1994; 2 127589. Leiden Muscular Dystrophy Pages Duchenne and Duchenne-like muscular dystrophies. http://www.emedicine.com/neuro/topic549.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Pediatric Neurology Congenital Muscular Dystrophy Last Updated: November 12, 2003 Rate this Article Email to a Colleague Synonyms and related keywords: Finnish-type congenital muscular dystrophy, Fukuyama congenital muscular dystrophy, integrin-alpha7 beta1-deficiency disease, laminin-alpha2 merosin-deficiency disease, muscle-eye-brain disease, Walker-Warburg congenital muscular dystrophy, CMD AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Glenn Lopate, MD , Assistant Professor of Neurology, Department of Neurology, Division of Neuromuscular Diseases, Washington University School of Medicine; Chief of Neurology, St Louis ConnectCare Glenn Lopate, MD, is a member of the following medical societies: American Academy of Neurology American Association of Electrodiagnostic Medicine American Neurological Association Muscular Dystrophy Association , and Phi Beta Kappa Editor(s): Robert S Rust, Jr, MD

23. EMedicine - Muscular Dystrophy : Article By Twee Do, MD Muscular Dystrophy. Last Updated December 1, 2002, Bushby K Genetics and the muscular dystrophies. Dev Med Child Neurol 2000 Nov; 42(11) 7804Medline. http://www.emedicine.com/orthoped/topic418.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Orthopedic Surgery Pediatrics Muscular Dystrophy Last Updated: December 1, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: MD, dystrophinopathies, Duchenne muscular dystrophy, Duchenne MD, Becker muscular dystrophy, Becker MD AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Indications Relevant Anatomy And Contraindications ... Bibliography Author: Twee Do, MD , Assistant Professor, Departments of Pediatrics and Orthopedic Surgery, University of Cincinnati College of Medicine Twee Do, MD, is a member of the following medical societies: American Academy of Orthopaedic Surgeons Editor(s): Charles T Mehlman, DO, MPH , Director, Musculoskeletal Outcomes Research, Assistant Professor, Division of Pediatric Orthopedic Surgery, Children's Hospital Medical Center Cincinnati; Francisco Talavera, PharmD, PhD , Senior Pharmacy Editor, Pharmacy, eMedicine;

24. THE MERCK MANUAL, Sec. 14, Ch. 184, Muscular Disorders Chapter 184. Muscular Disorders. Topics. muscular dystrophies. Myopathies. Channelopathies. click here for navigation help. muscular dystrophies. http://www.merck.com/mrkshared/mmanual/section14/chapter184/184a.jsp

25. Muscular Dystrophy Muscular Dystrophy. What is it? Muscular weakness. There are nine types of muscular dystrophies, listed here in alphabetical order. http://www.hmc.psu.edu/healthinfo/m/musculardystrophy.htm

26. BUBL LINK / 5:15 Internet Resources: Muscular Dystrophy documents Location canada Last checked 20001230 Muscular Dystrophy Association Contains extensive information on all muscular dystrophies and related http://bubl.ac.uk/link/m/musculardystrophy.htm

BUBL LINK / 5:15 Catalogue of Internet Resources Home Search Subject Menus A-Z ... About Muscular dystrophy A-Z Index Titles Descriptions Ask NOAH About: Muscular Dystrophy Human Neurological Diseases International Myotonic Dystrophy Organization Leiden Muscular Dystrophy Data ... National Institute of Neurological Disorders and Stroke Page last updated: 17 March 2003 Comments: bubl@bubl.ac.uk Ask NOAH About: Muscular Dystrophy Collection of resources about muscular dystrophy including information about genetics, carriers, prenatal diagnosis, specific types of the disorder, and care and treatment. Provides a newsletter and magazine which contain the latest news and research findings in the area. Also available in Spanish. Author: NOAH: New York Online Access to Health Subjects: muscular dystrophy DeweyClass: ResourceType: documents Location: usa Last checked: Human Neurological Diseases Extensive searchable and browsable index of neurological diseases. Author: Neil Busis Subjects: addiction, alzheimer's disease, anxiety disorders, autism, blindness, cerebral palsy, chronic fatigue syndrome, down syndrome, dyslexia, eating disorders, epilepsy, infectious diseases, multiple sclerosis, muscular dystrophy, neurology, pain, parkinson's disease, schizophrenia, sleep, stress, tourette syndrome DeweyClass: ResourceType: index Location: uk Last checked: International Myotonic Dystrophy Organization US based group offering information about Myotonic and Congenital Myotonic Dystrophies, two variants of muscular dystrophy. Articles are presented within sections, and deal with sleeping problems and energy levels, heart problems, genetic information, personality and psychological changes, promising therapies, and disease management, to name a few.

27. SMDI International The Society for Muscular Dystrophy Information International The following are some of these disorders *muscular dystrophies (11 different forms) http://nsnet.org/smdi/

The Society for Muscular Dystrophy Information International P.O. Box 7490, Bridgewater, Nova Scotia, B4V 2X6 Phone: (902) 685-3961 Fax: (902) 685-3962 Email: smdi@auracom.com The Society for Muscular Dystrophy Information International (S.M.D.I International), is a non-profit registered Canadian charity. The Society was formed to provide international information to help people help themselves by reducing the national and international isolation of people and organizations concerned with neuromuscular disorders/disabilities (muscular dystrophy and the over 50 allied disorders). The following are some of these disorders: *MUSCULAR DYSTROPHIES (11 different forms) Duchenne muscular dystrophy Becker muscular dystrophy Facioscapulohumeral (FSH) muscular dystrophy Limb-Girdle muscular dystrophy Myptonic muscular dystrophy Congenital muscular dystrophy Fukuyama muscular dystrophy Ophtalmoplegic muscular dystrophy Distal muscular dystrophy Oculopharyngeal muscular dystrophy Emery-Dreifuss muscular dystrophy Spinal muscular atrophies Diseases of peripheral nerve Diseases of neuromuscular junction Inflammatory myopathies Myotonias Metabolic or endocrine diseases of muscle Congenital myopathies Other disorders It should be noted that under each of the above headings, there are many different kinds of that specific disorder, (approximately 65 at this time, and more are being discovered all the time as research continues.)

28. Muscles Muscle Diseases. The muscular dystrophies (MD). Among the most common of the muscular dystrophies are those caused by mutations in the gene for dystrophin. http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/M/Muscles.html

Index to this page Anatomy of Skeletal Muscle The Muscle Fiber Thick and Thin Filaments The anatomy of a sarcomere ... The Cardiac Myopathies Muscles Animals use muscles to convert the chemical energy of ATP into mechanical work. Three different kinds of muscles are found in vertebrate animals Heart muscle cardiac muscle Smooth muscle is found in the walls of all the hollow organs of the body (except the heart). Its contraction reduces the size of these structures. Thus it regulates the flow of blood in the arteries moves your breakfast along through your gastrointestinal tract expels urine from your urinary bladder sends babies out into the world from the uterus regulates the flow of air through the lungs The contraction of smooth muscle is generally not under voluntary control. Skeletal muscle , as its name implies, is the muscle attached to the skeleton. It is also called striated muscle . The contraction of skeletal muscle is under voluntary control. Anatomy of Skeletal Muscle A single skeletal muscle, such as the triceps muscle, is attached at its

29. Types Of Muscular Dystrophy - Nervous System Diseases The most well known of the muscular dystrophies is Duchenne muscular dystrophy (DMD), followed by Becker muscular dystrophy (BMD). http://www.umm.edu/nervous/musctype.htm

Nervous System Diseases Nervous System Disorders... Alzheimer's Disease Amyotrophic Lateral Sclerosis ... Index Nervous System Diseases Types of Muscular Dystrophy and Neuromuscular Diseases What are the types of Muscular Dystrophy? Muscular dystrophy is a group of inherited diseases that are characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue. There are nine types of muscular dystrophy, but in each type there is an eventual loss of strength, increasing disability, and possible deformity. The most well known of the muscular dystrophies is Duchenne muscular dystrophy (DMD) , followed by Becker muscular dystrophy (BMD) . They cause similar patterns of weakness and disability and are inherited in the same way, although weakness and disability are more severe in DMD. Becker dystrophy is often classified as a less severe form of Duchenne dystrophy. They both are due to defects of the same gene, the normal function of which is to enable muscle fibers to make a particular chemical substance, a protein called dystrophin . Muscle fibers in people affected with DMD are extremely deficient in dystrophin, but in BMD the deficiency is less severe.

30. ► Muscular Dystrophy Muscular dystrophy. Causes, incidence, and risk factors The group of diseases called muscular dystrophies (MD) includes many inherited disorders such as http://www.umm.edu/ency/article/001190.htm

Disease Nutrition Surgery Symptoms Injury ... Z Maryland Medical Center Programs Home Medical Reference Encyclopedia (English) Toggle English Spanish Muscular dystrophy Overview Symptoms Treatment Prevention Definition: A group of disorders characterized by progressive muscle weakness and loss of muscle tissue. Alternative Names: Inherited myopathy; MD Causes, incidence, and risk factors: The group of diseases called muscular dystrophies (MD) includes many inherited disorders such as: Becker's muscular dystrophy Duchenne muscular dystrophy facioscapulohumeral muscular dystrophy limb-girdle muscular dystrophy Emery-Dreifuss muscular dystrophy myotonic dystrophy myotonia congenita These disorders are distinguished from each other by the type of inheritance (sex-linked, dominant gene , recessive gene ), the age when symptoms appear, and the types of symptoms that develop. Because these are inherited disorders, risks include a family history of muscular dystrophy. Lambert-Eaton syndrome and myasthenia gravis also have symptoms that may be similar to early stages of some types of muscular dystrophies, so these disorders must be ruled out when muscular dystrophies are diagnosed. Superficial anterior muscles Review Date: 7/27/2002 Reviewed By: Benjamin D. Roye, M.D., M.P.H., Department of Orthopedics, New York-Presbyterian Hospital, New York, NY. Review provided by VeriMed Healthcare Network.

31. Job Accommodation Network According to the Muscular Dystrophy Association, the standard Myotonic Dystrophy is among the most common of muscular dystrophies with an incident of 1 in 7000 http://www.jan.wvu.edu/media/MD.html

This publication is funded under a contract supported by the Office of Disability Employment Policy of the U.S. Department of Labor, contract #J-9-M-2-0022. The opinions contained in this publication are those of the contractor and do not necessarily reflect those of the U.S. Department of Labor. Job Accommodation Network ACCOMMODATING PEOPLE WITH MUSCULAR DYSTROPHY By Beth Loy, Ph.D. , and Linda Carter Batiste, J.D. Preface According to the Muscular Dystrophy Association, the standard Myotonic Dystrophy is among the most common of Muscular Dystrophies with an incident of 1 in 7000 or 1 in 8000. Today, many individuals are living and working with MD, and employers are seeing more incidents of MD among their employees. This coupled with the requirements of the Americans with Disabilities Act (ADA) show why knowing about workplace accommodations for people with MD is important. When considering accommodations for people with MD, the accommodation process must be conducted on a case-by-case basis. Symptoms caused by MD vary so when determining effective accommodations, the person's individual abilities and limitations should be considered and problematic job tasks must be identified. Therefore, the person with MD should be involved in the accommodation process.

32. Health Care Information Resources Neuromuscular Disorders Links from Italy; Neuromuscular disorders Information DMD/BMD Duchenne and Becker muscular dystrophies; Neuromuscular disorders - BeckerMuscularDystrophy http://www-hsl.mcmaster.ca/tomflem/neuromus.html

The address of this page is: http://hsl.mcmaster.ca/tomflem/neuromus.html Neuromuscular Disorders Links For more information, see: Amyotrophic lateral sclerosis , also in the Illness section of this resource. For more information, see: Genetic Conditions , also in the Illness section of this resource. For more information, see: Rheumatic diseases , also in the Illness section of this resource. Neuromuscular disorders - Muscular Dystrophy extensive collection from Australia Neuromuscular disorders - Muscular Dystrophy Association of Canada links to related sites Neuromuscular disorders - Giovanni Naso's Muscular Dystrophy Page from Italy Neuromuscular disorders - Muscular Dystrophy from NOAH, a wealth of information Neuromuscular disorders - Musclenet Neuromuscular disorders - Information DMD/BMD Duchenne and Becker muscular dystrophies Neuromuscular disorders - BeckerMuscularDystrophy.Org helping those affected to exchange information Neuromuscular disorders - Muscular Dystrophy Group Of Great Britain and Northern Ireland a wealth of information! Neuromuscular disorders - Duchenne Muscular Dystrophy Information Site from the parents of a patient Neuromuscular disorders - Duchenne/Becker Muscular Dystrophy multimedia guide from Your Genes, Your Health

33. DoctorYourself.com - Muscular Dystrophy Effects of Coenzyme Q10 on muscular dystrophies and neurogenic atrophies. Several kinds of hereditary muscular dystrophies are known. http://www.doctoryourself.com/dystrophy.html

Muscular Dystrophy and Nutritional Therapy Muscular Dystro Home Some Nutritional Aspects of Muscular Dystrophy Everybody knows what muscles are, and when they don’t work, the weakness, frailty and incapacity of a little child with muscular dystrophy makes for many a poignant poster and tearful telethon. “There is no treatment there is no specific therapy,” says the Merck Manual (p 1392). This despairing, autocratic but research-friendly comment must not be seen as the last word until we adequately weigh in maternal and fetal malnutrition as the cause of this disease. For if nutrient deficiency can cause an illness, nutrient therapy just may ameliorate, or even cure, that illness. “Dinner Table Heredity” Ova (human eggs) are formed during the fetal stage of a female’s life. In other words, all of a woman’s eggs are formed while she was developing inside her mother, before she herself was born. Wow. This means that what your grandmother ate significantly contributed to your health. Think that one over: What looks like genetic a problem may be a nutritional one. I call this “Dinner Table Heredity.” Just because a problem comes out of the womb does not mean that that problem is genetic and only genetic. There is an important interrelationship between food and the genes, called the genetotrophic concept, originated by Roger J. Williams, PhD. Dr. Williams, the discoverer of the B-vitamin pantothenic acid, has explained in his books and papers how biochemical birth defects may be overcome with nutrition.

34. MDFF - Frequently Asked Questions Other Submitted Questions What is Muscular Dystrophy? Most muscular dystrophies are inherited and caused by alterations in specific genes. http://www.mdff.org/faq.htm

If you have any questions please contact mdff@mdff.org Other Submitted Questions: What is Muscular Dystrophy? Muscular Dystrophy (MD) is the common name for several progressive hereditary diseases that cause muscles to weaken and degenerate. It is not contagious, and there are many kinds of MD. Each type has its own hereditary pattern, age of onset and rate of muscle loss. (click here to view types of MD) Most muscular dystrophies are inherited and caused by alterations in specific genes. Genes are found on the chromosomes in our cells and provide the instructions for how a person will grow and develop. Different genetic alterations cause different types of muscular dystrophies. How a certain muscular dystrophy is inherited depends upon which gene is altered. For more information on the specific genetic alteration that causes your muscular dystrophy and the way it may be inherited, please contact your physician or a genetics counselor. At the present time there is no prevention or cure. Due to recent discoveries, however, possibilities of a cure or treatment are closer than ever.

35. Medical Library: Muscular Dystrophy (MD) Muscular Dystrophy (MD). What is Muscular Dystrophy (MD)? The childhood muscular dystrophies making order out of chaos Seminars in Neurology. 1999;19(1)923. http://www.medem.com/MedLB/article_detaillb.cfm?article_ID=ZZZJY9GN8JC&sub_cat=5

36. Limb-Girdle Muscular Dystrophy - For Patients And Families - The Center For Huma All limbgirdle muscular dystrophies (LGMD) show a similar distribution of muscle weakness, affecting both upper arms and legs. http://www.chg.duke.edu/patients/lgmd.html

For Patients and Families Limb-Girdle Muscular Dystrophy What is Limb-Girdle Muscular Dystrophy? Genetics and LGMD Selected CHG Publications on LGMD LGMD Study Participation ... Additional LGMD Information What is Limb-Girdle Muscular Dystrophy? All limb-girdle muscular dystrophies (LGMD) show a similar distribution of muscle weakness, affecting both upper arms and legs. Frequently, the first reported symptoms will be difficulty climbing stairs, standing from a squatting position, or raising arms above the head. Genetics and LGMD The limb-girdle muscular dystrophies are known to be genetically heterogeneous , with both dominant and recessive forms reported. Autosomal Dominant LGMD The dominant LGMDs usually show adult onset. In addition to muscle weakness, the creatine kinase (CK) values are elevated in affected individuals usually 4 - 10 times the normal laboratory values. Currently, genes for 5 different forms of dominant LGMD have been localized and/or identified with additional loci yet to be identified. More ...

37. Muscular Dystrophy Is Not Just A Disease Of Childhood. Distal muscular dystrophy This is the rarest of the muscular dystrophies, although its incidence is comparatively high in Sweden. Muscular dystrophy explained. http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Muscular_dystroph

38. Muscular Dystrophy - Duchenne's And Becker Types Explained. There are a number of different types of muscular dystrophy. These muscular dystrophies usually lead to wheelchair dependence and early death. http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Muscular_dystroph

39. Muscular Dystrophy Nine major types of muscular dystrophy occur. The most common muscular dystrophies appear to be due to a genetic deficiency of the muscle protein dystrophin. http://www.cnn.com/HEALTH/library/DS/00200.html

International Edition MEMBER SERVICES The Web CNN.com Home Page World U.S. Weather ... Special Reports SERVICES Video E-mail Services CNNtoGO Contact Us SEARCH Web CNN.com In association with: CHILDREN'S HEALTH Birth Defects Muscular dystrophy Huntington's disease INFORMATION CENTERS: Pick a category Health Centers Family Health Men's Health Women's Health Children's Health Seniors' Health Working Life Pain Management Condition Centers Immune System Allergy Alzheimer's Arthritis Respiratory System Cancer Endocrine System Digestive System Heart and Blood Infectious Disease Mental Health Note: All links within content go to MayoClinic.com Diseases and Conditions Muscular dystrophy From MayoClinic.com Special to CNN.com Overview Muscular dystrophy (MD) is a group of rare inherited muscle diseases in which muscle fibers are unusually susceptible to damage. Muscles, primarily your voluntary muscles, become progressively weaker. In the late stages of muscular dystrophy, fat and connective tissue often replace muscle fibers. In some types of muscular dystrophy, heart muscles, other involuntary muscles and other organs are affected. Nine major types of muscular dystrophy occur. The most common muscular dystrophies appear to be due to a genetic deficiency of the muscle protein dystrophin.

40. Muscular Dystrophy Muscular Dystrophy muscular dystrophies. See Also Myopathy Causes. Types Duchenne Muscular Dystrophy Affects young boys. Facioscapulohumeral Muscular Dystrophy http://www.fpnotebook.com/NEU161.htm

Home About Links Index ... Editor's Choice document.write(code); Advertisement Neurology Motor Assorted Pages Amyotrophic Lateral Sclerosis Cataplexy Cervical Dystonia Guillain Barre Syndrome ... Right Hemiplegia Muscular Dystrophy Muscular Dystrophies Book Home Page Cardiovascular Medicine Dentistry Dermatology Emergency Medicine Endocrinology Gastroenterology General Medicine Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Neurology Index Autonomic Cerebellum Chorea Cranial Nerve Cognitive CSF Cardiovascular Medicine Demyelinating Dermatology Disability Examination Ophthalmology Geriatric Medicine Gynecology Headache Infectious Disease Laboratory General Level of Consciousness Motor Obstetrics Pediatrics Pharmacology Procedure Psychiatry Radiology Seizure Sensory Sports Medicine Surgery Tremor Page Motor Index ALS Cataplexy Dystonia Cervical Guillain Barre Myopathy Myopathy Duchenne Myopathy Myasthenia Gravis Restless Leg Syndrome See Also Myopathy Causes Types Duchenne Muscular Dystrophy Affects young boys Facioscapulohumeral Muscular Dystrophy Autosomal dominant with onset ages 10 to 20 years Limb-Girdle Muscular Dystrophy Onset ages 15 to 25 years Affects pelvic and shoulder muscles Myotonic Dystrophy Autosomal dominant with onset in early adulthood Myotonia with peripheral muscle wasting Associated conditions

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