1. NINDS Mitochondrial Myopathies Information Page An information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.Category Health Conditions and Diseases Metabolic Mitochondrial......Mitochondrial myopathies information sheet compiled by the National Institute ofNeurological Disorders and Stroke (NINDS). More about Mitochondrial myopathies, http://www.ninds.nih.gov/health_and_medical/disorders/mitochon_doc.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Mitochondrial Myopathies Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Mitochondrial Myopathies Information Page Reviewed 04-30-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Mitochondrial myopathies? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Mitochondrial myopathies? Is there any treatment? Although there is no specific treatment for any of the mitochondrial myopathies, physical therapy may extend the range of movement of muscles and improve dexterity. Vitamin therapies such as riboflavin, coenzyme Q, vitamins C and K, and carnitine (a specialized amino acid) may improve function in some patients. What is the prognosis?

2. Myopathies - Neurologychannel myopathies can be either genetically inherited or occur as a result of endocrine defects, inflammation or other abnormalites. Some myopathies, like the muscular dystrophies, develop at a very early age, whereas others don't usually develop until http://www.neurologychannel.com/myopathies

Home Search SiteMap Ask the Dr. ... Medical Store advertisement advertisement MYOPATHIES Overview Symptoms Causes Diagnosis ... Treatment CONDITIONS ADHD ALS Alzheimer's Disease Autism ... Carpal Tunnel Syndrome Cephalic Disorders Cerebral Palsy Charcot-Marie-Tooth Disease Dementia Encephalitis Epilepsy Essential Tremor ... Guillain-Barre Syndrome Headache Huntington's Disease Hydrocephalus Lou Gehrig's Disease ... Traumatic Brain Injury Vertigo TREATMENT OPTIONS Botulinum Toxin Therapy Epidural Injection Trigger Point Injection Vagus Nerve Stimulation RESOURCES Clinical Trials Links Videos ABOUT US Healthcommunities.com Pressroom Testimonial Overview Diseases that affect skeletal muscle - muscles that are connected to bones, like the biceps in the upper arm and quadriceps in the thigh - are often referred to as "myopathies." Myopathies can be caused by several different factors, including inherited genetic defects (e.g., the muscular dystrophies), endocrine or glandular defects, inflammation (e.g., polymyositis), or biochemical or metabolic abnormalities. Almost all of the various myopathies lead to a weakening and atrophy of the skeletal muscles, especially the muscles closest to the center of the body, the proximal muscles, such as the those in the thigh and shoulder. Muscles further from the center of the body, the distal muscles, such as those in our hands and feet, are generally less affected by the debilitating consequences of myopathy. Other symptoms that a person may experience depend on the particular disorder and include heart problems, skin rashes, or breathing difficulties.

3. Association Française Contre Les Myopathies Translate this page http://www.afm-france.org/

4. The Jackson Family's Website Information for people with Mitochondrial myopathies and related disorders. Medical downloads, support list, information, multiple links to other sites. http://www.melas.org/

The Jackson Family's Website Welcome to the Jackson Family's Website (JFW.) The mitochondrial-related information at this website can be found by clicking on the link provided near the end of the table that follows my wife's picture. I have no plans to bring back the MELAS Online Network (MON, the original website located at www.melas.org ) or the Mike-L , the Kids-L , or the MitoDoc-L the MON's mito-related listservs. How to Contact Us Postal Address Mike Jackson PO Box 16143 Augusta, GA 30919-2143 USA Internet (WWW) http://www.melas.org Webmaster Contact About Us Dad Dawntreader Karen Ann Pure Grace My Son Mouse's Place JFW Downloads Index Page JFW Favorite Links Index Page JFW Guestbook Entry Page JFW Webboard Entry Page JFW Storybook Index Page JFW Virtual "Yard Sale" Index Page JFW "Wildbunbunch" Listserv Information Page JFW Visitor's Log Archive Our new family business. Y'all stop by sometime! :O) More About the Jackson Family's Website Mitochondrial-related Information Information Page "MitoDragon" Listserv Information Page Forever In Our Hearts Mito-related Memorial Page.

5. Multicore/Minicore Myopathy Information And Support Site Offers an informational and support site for all myopathies. http://home.cogeco.ca/~famadio/

Multicore Myopathy (This site isn't strictly for Multicore Myopathy, but, for ALL myopathies) Don't forget to use your "Refresh" button as this site may have been updated, recently. MYOPATHY SURVEY In Loving Memory of... The best thing you can give your children, next to good values, are good memories... Created by Niagara Web Focus

6. Facts About Myopathies | MDA Publications 5/01 Facts About myopathies Muscular Dystrophy Association http://www.mdausa.org/publications/fa-myop.html

Facts About Myopathies Muscular Dystrophy Association Introduction Questions and Answers Part I Part II Does it Run in the Family? MDA's Search for Treatments and Cures ... MDA is Here to Help You INTRODUCTION Christine (Feigert) Swanson Dear Friends: When I was in my early teens, I was having an ice cream at the mall with some friends, and suddenly I couldn't move a muscle. The paramedics and the fire department came and I had to be wheeled out on a stretcher. The doctors, my parents and friends were baffled by what had happened. Many of the doctors doubted there was anything wrong with me. I had similar attacks over the years. Finally, it was found that I had hyperkalemic periodic paralysis, one of the myopathies described in this booklet. If you've recently found out you have an inheritable myopathy, you understand what my family and I went through. Because of the rarity of these diseases, your primary physician may not be aware that many of these myopathies can be managed with medication or changes in diet and exercise. This is why it's very important that you get all the information you can about your disorder. This pamphlet will help you get started. Learning that you or your child has a rare myopathy can be frightening and confusing. Some people may think you're lazy or mentally unbalanced, and that can hurt. One thing you can be sure of is that your disorder wasn't caused by anything you or your parents did, and you didn't catch it from anyone. As this pamphlet explains, each inheritable myopathy is caused by a very uncommon genetic defect that people often don't even know they have. (Two of the myopathies aren't inheritable; they're caused by thyroid imbalances that can occur for no known reason.)

7. The Myositis Association A nonprofit organization committed to helping people with inflammatory myopathies through a variety of information and support services. http://www.myositis.org/

HOME CONTACT US INTERNATIONAL What's New: ... Resources (Publications, etc) What is the mission of the The Myositis Association? The mission of the The Myositis Association is to improve the lives of those affected by inflammatory myopathies. We will seek out persons with inflammatory myopathies, provide a support network, act as a resource for patients and the medical community, advocate for patients, and promote research into the causes and treatment of the diseases. Who does The Myositis Association serve? The Myositis Association provides support to those with: Polymyositis (PM) Dermatomyositis (DM) Inclusion-Body Myositis (IBM) Juvenile Dermatomyositis (JM) The Myositis Association's programs: A web site with current, easy-to-understand information about the inflammatory myopathies for you, your family, and your doctor; A bulletin board where you can ask questions and share your experiences; A quarterly newsletter with articles on how to cope with your disease, understand treatments and lead a full life; A special newsletter

8. EMedicine - Myopathies : Article By Courtney A Bethel, MD, MPH Pathophysiology Most congenital or inherited myopathies are chronic slowly progressive diseases. http://www.emedicine.com/emerg/topic328.htm

document.write(''); (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Emergency Medicine Cardiovascular Myopathies Last Updated: December 10, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: disorder of skeletal muscle, myonosus AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Courtney A Bethel, MD, MPH , Assistant Professor, Department of Emergency Medicine, Mercy Catholic Medical Center, MCP Hahnemann University Courtney A Bethel, MD, MPH, is a member of the following medical societies: American Academy of Emergency Medicine , and American College of Emergency Physicians Editor(s): Jerry Balentine, DO , Professor of Emergency Medicine, New York College of Osteopathic Medicine; Medical Director, Department of Emergency Medicine, Saint Barnabas Hospital; Francisco Talavera, PharmD, PhD , Senior Pharmacy Editor, Pharmacy, eMedicine;

9. Facts About Mitochondrial Myopathies This booklet describes general causes, consequences and management of mitochondrialdiseases, with an emphasis on myopathies and encephalomyopathies and a http://www.mdausa.org/publications/mitochondrial_myopathies.html

MITOCHONDRIAL MYOPATHIES Facts About Mitochondrial Myopathies Dear Friends What Are Mitochondrial Diseases? What Causes Mitochondrial Diseases? What Happens to Someone With A Mitochondrial Disease ... MDA Is Here to Help You Dear Friends: If you're reading this pamphlet, it's probably because you have just received a very bewildering diagnosis: mitochondrial myopathy (MM). What is MM and what does it mean? These are questions my husband, Jeff, and I struggled with when our baby daughter, Alycia, was diagnosed with MM in 1995. MM is a disease with many different faces. As you'll read in this pamphlet, dozens of varieties of mitochondrial diseases have been identified, with a complex array of symptoms. Some symptoms can be so mild as to be hardly noticeable, while others are life-threatening. Jeff, Lori, and Alycia Downs Alycia's MM causes gastrointestinal problems that make it difficult for her to get adequate nutrition and gain weight. She also has muscle weakness, epilepsy, drooping eyelids, fatigue, poor balance, hearing loss and learning delays. You or your family member may have similar symptoms, yet each case also is unique. When we first learned that Alycia had MM, we naturally were very frightened and uncertain about the future. As time has unfolded, we've learned that we can do things we didn't think were possible — we can adapt to the uncertainty, control the fear, cope with changes as they occur and still have a "normal" happy family life.

10. Robert Guthrie Biochemical Genetics Laboratory Diagnostic testing for inborn errors of metabolism with an emphasis on metabolic myopathies and mitochondrial diseases. Includes printoff forms and research updates. http://www.rgbgl.org/

The Robert Guthrie Biochemical Genetics Laboratory performs over 3,000 esoteric diagnostic tests annually for inborn errors of metabolism with a particular emphasis on the metabolic myopathies and mitochondrial disease. The laboratory is associated with Children's Hospital of Buffalo, a division of Kaleida Health System.

11. Myopathy Differential Diagnosis School's Neuromuscular Disease Ctr analyzes the characteristics of myopathy and neuromuscular junction disorders such as nemaline rod myopathy. Most myopathies are symmetric and maximal proximally. http://www.neuro.wustl.edu/neuromuscular/maltbrain.html

Disorders: Differential Diagnosis Index Search Myopathy Neuropathy ... Wash U DISTRIBUTION OF WEAKNESS: Distinctive Patterns Gowers ' sign General Asymmetry with EOM Weakness without EOM Weakness Limb-Girdle Syndromes Focal Bulbar Congenital Paraspinous Posterior Neck ... Scapular Most myopathies are symmetric and maximal proximally. See Neuromuscular Syndromes TIME COURSE SYSTEMIC FEATURES Acute Episodic Fatigue Myasthenic Syndromes Onset of weakness Congenital Infantile Amyloid Cardiac + Myopathy No myopathy Central Nervous System Endocrine ... Skin MUSCLE FEATURES LAB FEATURES GENERAL Muscle Fiber Activity Cramps Pain Reflexes Size Large Muscles Autoantibodies Creatine Kinase (CK): Very High Unexpectedly High Low Dystrophinopathy ... Immunomodulating therapies Muscle innervation Upper extremity Lower extremity Neuromuscular Syndromes Toxic ... Typical Disease Patterns Go to Differential Diagnosis of Neuropathies Return to Neuromuscular Home Page or newly revised Other recent revisions

12. Neuromuscular: Muscle Autoantibodies Antibodies and complement in myopathies and neuromuscular junction disorders. Maintained by Washington University School of Medicine, St. Louis, MO. http://www.neuro.wustl.edu/neuromuscular/lab/mantibody.html

Front Search Index Links ... Patient Info General topics Antibodies Acetylcholine receptor ANCA Cytoplasmic DNA ... Lambert-Eaton myasthenia M-protein Amyloid : Light chain Anti-Decorin myopathy : IgM Scleromyxedema : IgG Myasthenia gravis Neuropathy Specific antibodies 56 kD RNP component Centromere Double-stranded DNA Fibrillarin ... PM-Scl RNP Nuclear: U1-nRNP U2-nRNP Ribosomal Signal Recognition Particle ... Anti-Acetylcholine Receptor (IgG) Anti-Striational (IgG): With Thymoma Lambert-Eaton Myasthenic Syndrome Anti-P-type Calcium Channel (IgG) Anti-Decorin (BJ antigen) Myopathy Clinical features Onset: 7th deacde Weakness Proximal Symmetric Tendon reflexes: Present Course: Slowly progressive to moderate disability Laboratory Serum CK: High, ~ 1,000 IgM k M-protein Serum IgM vs Decorin (BJ antigen): Testing Decorin antigen Proteoglycan Located in muscle basal lamina Antigenic epitope: Chondroitin sulfate carbohydrate moiety Muscle pathology Variable muscle fiber size Endomysial fibrosis Large, irregularly shaped myonuclei Endomysial deposition of IgM Serum IgM binding to muscle endomysium ANTIBODIES IN CONNECTIVE TISSUE DISORDERS Antibody types Cytoplasmic Nuclear Nucleolar ... MYOSITIS -ASSOCIATED ANTIBODIES Specificity: High for inflammatory myopathies Sensitivity: 1% to 35% Antibody class: IgG Target antigen Not tissue specific Usually enzyme, not tRNA

13. Myopathies Nat'l Institute of Neurological Disorders and Stroke defines mitochondrial myopathies and describes treatment options, prognoses and research. What is Mitochondrial myopathies? Is there any treatment? http://www.med.univ-rennes1.fr/galesne/neuro/myopathies.htm

Myopathies Service de neurologie, CHU de Rennes, 2 rue Henri Le Guilloux, 35033 Rennes Cedex 1.1 Dystrophies musculaires de l'enfant 1.2 Dystrophies musculaires de l'adulte 2 Les myopathies acquises 2.1 Myopathies endocriniennes ... 2.3 Myosites 1.1 Dystrophies musculaires de l'enfant 1.1.1 La maladie de Duchenne Signes cliniques : L'EMG Les enzymes musculaires La biopsie musculaire traitement est palliatif est donc capital. La dystrophie de Becker 1.2 Dystrophies musculaires de l'adulte 1.2.1 Dystrophie myotonique de Steinert Transmission autosomique dominante (chromosome 19) La clinique associe : La biopsie confirme le diagnostic. Les enzymes musculaires sont normales. Il n'existe pas de traitement curatif : traitement palliatif et surveillance cardiaque, ophtalmologique. Maladie assez rare, d'expression clinique variable. Transmission autosomique dominante. Les enzymes musculaires sont normales. 1.2.3 Myopathies des ceintures La transmission est variable suivant le type de myopathie. Deux tableaux possibles : - chez l'adulte, un tableau de myopathie des ceintures avec atteinte respiratoire, macro-glossie.

14. Myopathies - Treatment - Neurologychannel Treatments range from drug therapy for the muscular dystrophies and inflammatorymyopathies to simply avoiding situations that work the muscles too hard for http://www.neurologychannel.com/myopathies/treatment.shtml

Home Search SiteMap Ask the Dr. ... Medical Store advertisement advertisement MYOPATHIES Overview Symptoms Causes Diagnosis ... Treatment CONDITIONS ADHD ALS Alzheimer's Disease Autism ... Carpal Tunnel Syndrome Cephalic Disorders Cerebral Palsy Charcot-Marie-Tooth Disease Dementia Encephalitis Epilepsy Essential Tremor ... Guillain-Barre Syndrome Headache Huntington's Disease Hydrocephalus Lou Gehrig's Disease ... Traumatic Brain Injury Vertigo TREATMENT OPTIONS Botulinum Toxin Therapy Epidural Injection Trigger Point Injection Vagus Nerve Stimulation RESOURCES Clinical Trials Links Videos ABOUT US Healthcommunities.com Pressroom Testimonial Treatment The treatment of myopathy depends on what causes the myopathy. Treatments range from drug therapy for the muscular dystrophies and inflammatory myopathies to simply avoiding situations that work the muscles too hard for the metabolic myopathies. There is currently no known association between diet and muscle disease, but some physicians recommend that people keep their weight down (a lighter body requires less work from the muscles) and avoid overexerting their muscles. For people with breathing problems, whether caused by muscular dystrophy or another myopathy, an incentive spirometer might improve breathing function, although it is not clear that this works for very many patients. Unfortunately, there is no way to strengthen the breathing muscles. One of the aims of gene therapy research is to find a way to deliver genes to the diaphragm and other breathing muscles to improve their function.

15. Joshua Frase Foundation Dedicated to supporting ongoing medical research for myotubular myopathy and other related congenital myopathies. http://www.joshuafrase.org

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16. EMedicine - Myopathies : Article By Courtney A Bethel, MD, MPH myopathies Myopathy is a muscle disease unrelated to any disorder of innervationor neuromuscular junction. Etiologies vary widely. myopathies. http://www.emedicine.com/EMERG/topic328.htm

document.write(''); (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Emergency Medicine Cardiovascular Myopathies Last Updated: December 10, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: disorder of skeletal muscle, myonosus AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Courtney A Bethel, MD, MPH , Assistant Professor, Department of Emergency Medicine, Mercy Catholic Medical Center, MCP Hahnemann University Courtney A Bethel, MD, MPH, is a member of the following medical societies: American Academy of Emergency Medicine , and American College of Emergency Physicians Editor(s): Jerry Balentine, DO , Professor of Emergency Medicine, New York College of Osteopathic Medicine; Medical Director, Department of Emergency Medicine, Saint Barnabas Hospital; Francisco Talavera, PharmD, PhD , Senior Pharmacy Editor, Pharmacy, eMedicine;

17. AFM TELETHON HAUTE-NORMANDIE Http://afm-haute-normandie.org Association fran§aise contre les myopathies, d©legation Rouen Eure. http://afm-haute-normandie.org/

Les réseaux AFM en Haute Normandie Le journal Vers La Vie - Les nouveaux articles VLV10, 11 et 12 Le site du DRAC de Rouen Le site du Poèm'thon Navigateurs n'acceptant pas les cadres, entrez ici Plan du site Consultez et enrichissez le livre d'or Nous joindre Le Téléthon en Haute Normandie La coordination de l'Eure ... La coordination du 76 ouest (Secteur Le Havre - Bolbec) La coordination du 76 est (Secteur Rouen - Dieppe) Le site AFM national http://www.afm-france.org/ Le site Telethon national http://www.telethon.fr/ Moteur de recherche interne au site AFM (recherche par mots clés) Dernière actualisation : 5 Décembre 2002 Eur'net Stats

18. EMedicine - Congenital Myopathies : Article By Glenn Lopate, MD Congenital myopathies The first report of a congenital myopathy was in 1956, whena patient with central core disease was described. Congenital myopathies. http://www.emedicine.com/neuro/topic76.htm

document.write(''); (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Neurology Pediatric Neurology Congenital Myopathies Last Updated: November 3, 2001 Rate this Article Email to a Colleague Synonyms and related keywords: cap myopathy, central core disease, centronuclear myopathy, congenital fiber type disproportion, congenital myopathy with excess of thin filaments, cytoplasmic body myopathy, desmin storage myopathies, reducing body myopathy, fingerprint body myopathy, hyaline body myopathy, familial myopathy with probable lysis of myofibrils, multicore disease, minicore disease, myopathies with tubular aggregates, myotubular myopathy, nemaline myopathy, rod myopathy, sarcotubular myopathy, spheroid body myopathy, trilaminar fiber myopathy, X-linked myopathy with excessive autophagy, zebra body myopathy AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Glenn Lopate, MD

19. Accueil AFM Isère Section Is¨re de l'association fran§aise contre les myopathies. http://members.aol.com/delegation38/

Accueil L'AFM en Isère Le Téléthon Informations Index Bienvenue sur le site de l'Association Française contre les Myopathies du département de l'Isère Lieu d'accueil, d'écoute et de conseil pour les familles Iséroises confrontées à une maladie neuromusculaire, à une myopathie, et à leurs conséquences engendrant un handicap vous pouvez encore faire un don pour le Téléthon notre forum , foire aux questions et petites annonces utilisez l'index pour faciliter votre navigation sur le site ou le nouveau moteur de recherche interne projet en cours : une recherche avancée sur les différentes pathologies, les réponses aux problèmes posés par une situation de handicap... Rechercher sur le site » aide Site optimisé pour un affichage en 16M couleurs avec IExploreur Concept et réalisation : Hervé Chabert La reproduction de tout ou partie de ce site est interdite (c) AFM et auteurs respectifs e-mail

20. Myopathies Translate this page myopathies. Dr. Véronique de Deburghgraeve, Dr. Serge Belliard.Service de neurologie 1 Les myopathies héréditaires. Ce sont des http://www.med.univ-rennes1.fr/etud/neuro/myopathies.htm

Myopathies Service de neurologie, CHU de Rennes, 2 rue Henri Le Guilloux, 35033 Rennes Cedex 1.1 Dystrophies musculaires de l'enfant 1.2 Dystrophies musculaires de l'adulte 2 Les myopathies acquises 2.1 Myopathies endocriniennes ... 2.3 Myosites 1.1 Dystrophies musculaires de l'enfant 1.1.1 La maladie de Duchenne Signes cliniques : L'EMG Les enzymes musculaires La biopsie musculaire traitement est palliatif est donc capital. La dystrophie de Becker 1.2 Dystrophies musculaires de l'adulte 1.2.1 Dystrophie myotonique de Steinert Transmission autosomique dominante (chromosome 19) La clinique associe : La biopsie confirme le diagnostic. Les enzymes musculaires sont normales. Il n'existe pas de traitement curatif : traitement palliatif et surveillance cardiaque, ophtalmologique. Maladie assez rare, d'expression clinique variable. Transmission autosomique dominante. Les enzymes musculaires sont normales. 1.2.3 Myopathies des ceintures La transmission est variable suivant le type de myopathie. Deux tableaux possibles : - chez l'adulte, un tableau de myopathie des ceintures avec atteinte respiratoire, macro-glossie.

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