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

Front Search Index Links ... Patient Info General topics Antibodies Acetylcholine receptor ANCA Cytoplasmic DNA ... Amyloid : Light chain Anti-Decorin myopathy : IgM Scleromyxedema : IgG Myasthenia gravis Neuropathy Scleroderma Specific antibodies 56 kD RNP component Centromere Double-stranded DNA Fibrillarin ... Rheumatoid factors 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 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

22. Cardiac + Myopathy; Cardiomyopathy Mitochondrial disorders Nemaline rod Other myopathies Periodic Organic aciduria. Reye's syndrome. Chronic myopathies. Treatment Valproate; http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

23. Facts About Myopathies | MDA Publications (Two of the myopathies aren t inheritable; they re caused by thyroid Like my hyperKPP, many myopathies can be controlled so that they cause very little http://www.mdausa.org/publications/fa-myop.html

Facts About Myopathies Muscular Dystrophy Association Click here for the Spanish version of this publication 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.)

24. 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 the Women's and Children's Hospital of Buffalo, a division of Kaleida Health System.

25. Muscular Dystrophy Canada Dystrophie Musculaire Canada - - Association ouevrant la qualit de vie des personnes atteintes et au financement de bourses de recherche. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

26. Facts About Mitochondrial Myopathies Special Issues in Mitochondrial myopathies and Encephalomyopathies Mitochondrial myopathies can also cause weakness and wasting in other muscles of the http://www.mdausa.org/publications/mitochondrial_myopathies.html

Facts About Mitochondrial Myopathies Click here for the Spanish version of this publication. 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.

27. TMA: Home A nonprofit organization committed to helping people with inflammatory myopathies through a variety of information and support services. http://www.myositis.org/

HOME DONATE CONTACT US INTERNATIONAL ... Surveys Myositis Awareness Day! Celebrate Myositis Awareness Day on September 21st by contacting your local media or creating an awareness event. Contact TMA to find out how! To find out more about Myositis Awareness Day, click here CA Symposium Celebrates Myositis Awareness Day! The Keep In Touch support groups of Los Angeles, Northern California, and San Diego are holding a one-day symposium to observe Myositis Awareness Day in California. The Symposium will be held on Saturday, September 24th at the Crowne Plaza Hotel near Los Angeles International Airport. Topics will cover motivation, education and therapy and there will be time for individual attendees to meet and share their personal experiences. There is no charge to attend the symposium except for parking ($4). Detailed information about the symposium and registration can be found here . Registration deadline is September 10th. TMA Events! 2005 Annual Conference Tentative Agenda and Speakers Cleveland, OH October 6-9, 2005

28. Mitochondrial Myopathies Information Page National Institute Of Mitochondrial myopathies information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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

members.aol.com/afm38/ 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 aux conséquences engendrant un handicap Nouveau, le projet trucs et astuces : participez à la création d'une base de données et au partage de vos idées et réalisations La rubrique : livres et publications à lire Notre forum , foire aux questions et petites annonces Utilisez l'index pour faciliter votre navigation sur le site Accueil » AFM Isère » Le Téléthon » Informations » Index Site optimisé pour un affichage en 32M couleurs Concept et réalisation : Hervé Chabert » rvchabert@aol.com La reproduction de tout ou partie de ce site est interdite (c) AFM et auteurs respectifs Ce site est hébergé gracieusement par AOL

30. Home Page Information and support for parents and medical professionals about xlinked, autosomal recessive, and autosomal dominant forms of MTM. Includes a http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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

32. 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 : 17 Mars 2005 Eur'net Stats

33. Myopathies Some myopathies are inflammatory, leading to inflamed, weakened muscles. Facts About myopathies. Tucson, AZ Muscular Dystrophy Association, 1993. http://www.healthatoz.com/healthatoz/Atoz/ency/myopathies.jsp

34. Www.astb.asso.fr L'association, la maladie et son histoire, le journal de liaison, sites am©ricains et canadiens, plateforme maladies rares, assocation Fran§aise des myopathies (AFM) et union nationale des associations de parents et amis de personnes handicap©es mentales (UNAPEI), l'ASTB en brochure, bibliographie . http://www.astb.asso.fr/

link link

35. Patient Education - Myopathies It is not known what causes the idiopathic inflammatory myopathies. Since the myopathies are chronic diseases, it is important for patients to practice http://www.rheumatology.org/public/factsheets/myopathies_new2.asp?aud=pat

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

window.open('music.html','music','toolbar=no,status=no,scrollbars=no,resizable=no,width=144,height=144') Funding research for all congenital myopathies - researching answers for all neuromuscular diseases. Neuromuscular Diseases - Neuromuscular Disease - Congenital Myopathy - Muscle Disorder -Muscular Dystrophy -hypotonia -muscle weakness-genetic research - child foundation - Children's Foundations

37. Myopathies Autoimmune myopathies are a group of diseases that involve inflammation of the The cause of myopathies is unknown, but environmental factors (such as http://www.rheumatology.org/public/factsheets/myopathi.asp

View Site Map ACR Home Patient Education Printer-friendly Format ... Back to ACR Fact Sheets Myopathies What Are Myopathies? Autoimmune myopathies are a group of diseases that involve inflammation of the muscles and may be associated with diseases of internal organs. Diseases affecting muscles include polymyositis, dermatomyositis and inclusion body myositis. The main symptom is muscle weakness in the upper arms, upper legs and neck, muscle pain, fatigue, joint pain and swelling, rashes over the face and knuckles, fevers, swallowing difficulty and shortness of breath. Cause The cause of myopathies is unknown, but environmental factors (such as viral infections) and genetic predisposition are felt to be important in some cases. Health Impact Only about 1 new case per 100,000 is diagnosed each year. Myopathies occur two to three times more frequently in women than men. Severity of disease varies from a mild form with almost no symptoms to a severe, life-threatening disease. Diagnosis Diagnosis is attained through a history and physical exam, certain laboratory tests, muscle biopsy and electromyography (a study of the electrical activity of muscle). Other diseases or conditions such as hypothyroidism, toxin exposure, drug reactions and genetic disorders may also affect muscles and need to be ruled out.

38. 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. In Loving Memory of... The best thing you can give your children, next to good values, are good memories... Created by Niagara Web Focus

39. Congenital Weakness Differential Dx in NM disorders Nemaline Myotubular myopathies; Rod myopathies Specific syndromes l NEM1 Rod myopathy atropomyosin 3 (TPM3) http://www.neuro.wustl.edu/neuromuscular/syncm.html

Front Index Search Links ... Patient Information CONGENITAL WEAKNESS Absent muscles Apoptosis Arthrogryposis Bethlem myopathy ... Hyaline body (Myosin storage) Mental retardation, X-linked Metabolic disorders Mitochondrial Multicore (Minicore) Myasthenic Syndromes Myotonic dystrophy Nemaline rod Neuropathic syndromes ... Epidermolysis bullosa : Plectin; 8q24 Fukuyama : Fukutin; 9q31 Junctional Epidermolysis Bullosa Deficient Normal: "Pure" form Mitochondrial structural changes ... Walker-Warburg Muscle hypertrophy Mental retardation Respiratory failure Muscle hypertrophy (MDC1C): FKRP; 19q13 Severe retardation (MDC1D): LARGE; 22q12 Rigid spine with CMD Ullrich General features Other congenital weakness Batten ABSENT or WEAK MUSCLES Abdominal Brachial plexus ... Trapezius GENERAL Hypotonia : Clinical assessment Traction response Maneuver: Grasp child's hands; Pull to sitting position Newborn: Head lags behind; Drops forward suddenly when upright posture is reached Normal at 1 month: Minimal head lag; Flexion at the elbows, knees, and ankles Assessment of mother History: Delayed walking or other motor functions; Skeletal or joint deformity

40. Toxic Myopathies Agonistinduced myopathy Organophosphates; Amphiphilic Drug myopathies Focal fibrosing myopathies Due to injections of drugs; Valproate http://www.neuro.wustl.edu/neuromuscular/mother/myotox.htm

Front Search Index Links ... Patient Info TOXIC MYOPATHIES Amphiphilic drug myopathies Focal fibrosing myopathies Hypokalemic myopathies Mitochondrial ... Myotonic syndromes NMJ disorders Myasthenic syndromes: Drug-related Overactivity syndromes Rhabdomyolysis Toxic myopathies: Classification ... Zidovudine Classification of Toxic Myopathies Mitochondrial AZT Germanium Myosin Deficiency Myopathies : Associated with Corticosteroids Non-depolarizing blocking agents: Vecuronium; Atracuronium Rhabdomyolysis syndromes Ethanol Heroin; Cocaine; Toluene Snake Venoms Cholesterol-lowering-agent myopathy Cyclosporine Hypokalemic myopathies Muscle overactivity syndromes Neural CNS overactivity: Phencyclidine; Amphetamine; Cicutoxin Neuroleptic malignant syndrome: Lithium; Haloperidol; Phenothiazines Combinations are especially likely to produce myopathy Motor neuron hyperactivity: Tetanus Strychnine Myotonia Inducing Exacerbating Agonist-induced myopathy: Organophosphates Amphiphilic Drug Myopathies Necrotizing Vacuolar Anti-microtubule drugs: Especially colchicine Chlorphenoxy herbicides Cyclosporine Emetine ... Inflammatory myopathies D-penicillamine 1,1'-Ethylidinebis[tryptophan]:

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