41. (11[2]) 206-217) Congenital Myopathies (112) 206217) Congenital myopathies Antje Bornemann and Hans H. Goebel Most congenitalmyopathies have been defined on account of the morphological findings http://brainpath.medsch.ucla.edu/abstracts/vol11/1102/112a7.htm

Congenital Myopathies Antje Bornemann and Hans H. Goebel Most congenital myopathies have been defined on account of the morphological findings in enzyme histochemical preparations. In effect, the diagnosis of this group of diseases continues to be made on the histological pattern of muscle biopsies. However, progress has been made in elucidating the molecular genetic background of several of the congenital myopathies. In this updated review we address those congenital myopathies for which gene defects and mutant proteins have been found (central core disease, nemaline myopathies, desminopathy, actinopathy, certain vacuolar myopathies, and myotubular myopathy) and the other disease with central nuclei (centronuclear myopathy). ( Download PDF: 720KB

42. Neuroconsult.co.uk - The myopathies Myasthenia Gravis - Peripheral Neuropathy - myopathies - Dermatomyositis- Polymyositis - Muscular Dystrophy General / Disease Information http://www.neuroconsult.co.uk/patientssite/diseaseareaspatients/peripheral disea

PERIPHERAL DISORDERS MYOPATHIES Myasthenia Gravis Peripheral Neuropathy - Myopathies - Dermatomyositis Polymyositis Muscular Dystrophy General / Disease Information National Institute of Neurological Disorders and Stroke (NINDS) Provides up to date information on current research projects. Specific information on mitochondrial myopathies Myopathies due to Endocrine Abnormalities: Hyperthyroid Myopathy (HYPTM) Hypothyroid Myopathy (HYPOTM) Other Myopathies: Myotonia Congenita (MC) (Two forms: Thomsen’s and Becker’s Disease) Paramyotonia Congenita (PC) Central Core Disease (CCD) Nemaline Myopathy (NM) Myotubular Myopathy (MTM or MM) ... Periodic Paralysis (PP) Two forms: Hypokalemic and Hyperkalemic Metabolic Diseases of Muscle: Phosphorylase Deficiency (MPD or PYGM) Also known as McArdle’s Disease Acid Maltase Deficiency (AMD) Phosphofructokinase Deficiency (PFKM) Also known as Tarui’s Disease Debrancher Enzyme Deficiency (DBD) Also known as Cori’s or Forbes’ Disease Mitochondrial Myopathy (MITO) Carnitine Deficiency (CD) Carnitine Palmityl Transferase Deficiency (CPT) Phosphoglycerate Kinase Deficiency (PGK) ... Myoadenylate Deaminase Deficiency (MAD)

43. Periodic Paralysis Association myopathies This is a diverse myoclonic jerks. Most of the disorders discussedat this site are myopathies in some sense. The exception http://www.periodicparalysis.org/PPRC/Myopathies/

44. MYOPATHIES Translate this page 1°) De quoi s'agit-il ? Les myopathies sont des maladies des muscles de causeinconnue, d'installation progressive et à transmission héréditaire. http://www.ifrance.com/rossant/MYOPATHIES_MAJ.htm

Les myopathies (myopathie de Duchenne) 1°) De quoi s'agit-il ? A l'examen, le diagnostic est assez facile. 3°) Quel est l'avenir de ces enfants ? Pour les parents, le risque d'avoir un nouvel enfant myopathe est de 1/2 en ce qui concerne les naissances masculines. POUR EN SAVOIR PLUS : Quelques adresses d'organismes : En France 296 rue Lecourbe, 75015 Paris (1.45.54.19.19) Direction scientifique : 1.44.16.27.00 Numeris (RNIS) : Fax : 1. 44.16.27.28 Minitel : 3615 TELETHON Affaires internationales : 1.44.16.27.10 En Belgique En Suisse - Quelques articles : - Demos J. et coll.: Les myopathies de l'enfant. Rev. Neuropsychiat. infant., 1970, 18, 312

45. Mitochondrial Myopathies The mitochondrial myopathies are a group of neuromuscular diseases of the mitochondria. ReceiveHealthLink via email! Subscribe now . Mitochondrial myopathies. http://healthlink.mcw.edu/article/921441138.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: By keywords: Receive Health Link via email! Subscribe now >> Mitochondrial Myopathies The mitochondrial myopathies are a group of neuromuscular diseases of the mitochondria. Mitochondria, which are small structures found in every cell in the body and are the "power plant" or energy-producing part of the cell, appear to cause the most damage in cells that require a great deal of energy such as nerves in the brain and muscles. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, oculocraniosomatic neuromuscular disease with ragged-red fibers, myoclonus epilepsy with ragged-red fibers (MERRF), and mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS). The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, vomiting, and seizures. These disorders range in severity from progressive weakness to death. The age of onset ranges from birth to adult life, with the majority of cases occurring before the age of 20. Exercise intolerance or muscle weakness usually develops by age 10. During activity, active muscles may become easily fatigued or weak. Nausea, headache and breathlessness are also sometimes associated.

46. Gene Expression In Inflammatory Myopathies Gene Expression in Inflammatory myopathies. Contact Us about this project.Summary The goals of Gene Expression in Inflammatory myopathies http://www.chip.org/research/projects_geneexpression.html

Gene Expression in Inflammatory Myopathies Contact Us about this project Summary The goals of Gene Expression in Inflammatory Myopathies are: (1) to formulate and validate hypotheses relevant to the pathogenesis of the inflammatory myopathies through the use of DNA microarrays and measurement of large-scale muscle tissue gene expression, (2) to characterize patterns of muscle gene expression among distinct clinical subtypes of inflammatory myopathies and correlate these patterns with clinical phenotypes, and (3) to explore possible gene function for genes, cDNAs, and expressed sequence tags (ESTs) of unknown function through computational techniques applied to these expression profiles. High-density oligonucleotide microarrays are used to assay gene expression in muscle biopsy specimens from patients with inflammatory myopathies. Data analysis of differential gene expression provides leads relevant to pathogenesis that will then be validated biologically. Gene expression profiles are linked with clinical data to refine disease classification. This work may provide further understanding of the pathogenesis of inflammatory myopathies with a consequent generation of hypotheses for treatment and may contribute to clinical classification of this group of diseases. Staff Steven A. Greenberg

47. Neuromuscular Disease Research: Myopathies Menu myopathies. Myopathy muscles. Symptoms of myopathies are related todifficulties arising from the weakness of the proximal muscles. http://www.bcm.tmc.edu/neurol/research/nmus/nmus3a.html

Myopathies Myopathy is a general term that implies disease of the muscle. Diseases of the muscle are usually characterized by weakness. The weakness tends to involve the proximal muscles of the limbs, that is the muscles closer to the body, and might also involve the neck muscles. Symptoms of myopathies are related to difficulties arising from the weakness of the proximal muscles. Patients complain about difficulties climbing up stairs, getting up from a chair, rising from a squatting position, combing hair, and reaching for high objects. Other symptoms that can be seen in certain myopathies include muscle tenderness, and in late stage chronic cases, muscle atrophy. Polymyositis Dermatomyositis Inclusion Body Myositis Muscular Dystrophies ... Metabolic Myopathies Department of Neurology, Baylor College of Medicine Comments to: neurons URL:http://www.bcm.tmc.edu/neurol/index.html

48. Neuromuscular Disease Research: Metabolic Myopathies Metabolic myopathies. In both glycogen and lipid storage myopathies, quantitativemeasurement of the deficient enzyme will confirm the diagnosis. http://www.bcm.tmc.edu/neurol/research/nmus/nmus3a5.html

Metabolic Myopathies The muscle biopsy also helps to confirm some abnormalities of the lipid metabolism. In those cases the muscle biopsy is essentially normal except for the presence of abnormal lipid deposits in the majority of the fibers with oil-red-O stain. In both glycogen and lipid storage myopathies, quantitative measurement of the deficient enzyme will confirm the diagnosis. There is no specific treatment for many of the metabolic muscle disorders. Once a particular defect is identified, attempts are made to instruct the patient to avoid precipitating factors. In some disorders, such as carnitine deficiency, a lipid myopathy, attempts have been made with variable success to treat the condition with oral carnitine. Click picture for larger version Oil-red-O stain showing increased number of lipid droplets. For Information : Y. Harati, M.D., F.A.C.P. Professor of Neurology, Baylor College of Medicine Director, Muscle and Nerve Pathology Laboratory 6550 Fannin, Suite 1800 Houston, Texas 77030 Telephone: 1-713-798-5993 Fax: 1-713-798-5030 Email: yharati@bcm.tmc.edu

49. Principales Myopathies Translate this page Les principales myopathies. en dehors de la dystrophie musculaire de Duchenne/Becker.La dystrophie Les myopathies congénitales. Les myopathies http://noemed.univ-rennes1.fr/sisrai/art/principales_autres_myopathies_p._268-27

Les principales myopathies en dehors de la dystrophie musculaire de Duchenne/Becker QU'EST-CE QUE LA FSH ? COMMENT SE MANIFESTE T-ELLE ? QUELLE EN EST LA CAUSE ? La FSH est progressivement % des cas, d'utiliser un fauteuil roulant. Il s'agit d'un type occidental classique Fukuyama, Walker-Warburg, Muscle-œil-cerveau la prise en charge , on parle de myopathie central core minicore la dystrophie myotonique de steinert qu'est-ce que la dystrophie myotonique de steinert ? COMMENT SE MANIFESTE-T-ELLE ? La forme adulte commune , qui associe : La QUELLE EN EST LA CAUSE ? La maladie de Steinert est une ans QUELS TRAITEMENTS et PRISE EN CHARGE peut-on proposer ? Il n'existe pas actuellement de traitement curatif VIVRE AVEC LA MALADIE DE STEINERT Pour en savoir plus sur toutes ces affections Association La dystrophie myotonique de Steinert. Monographie Myoline, AFM, 1993. Dystrophie musculaire de Steinert. Fiche technique Myoline, AFM, 1993.

50. Myopathies Congénitales Structurales : Arborescences MeSH Translate this page myopathies Congénitales Structurales. myopathies némaline C05.651.575.290page CISMeF du motclef myosite C05.651.594 + page CISMeF du motclef http://www.chu-rouen.fr/navimesh/navimyopathiescongenitalesstructurales.html

Myopathies Congénitales Structurales : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF appareil locomoteur, maladies muscle, maladies arthrogrypose cellulalgie ... troubles myotoniques 27 février 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

51. Myopathies Congénitales Structurales : Sites Et Documents Francophones http://www.chu-rouen.fr/ssf/pathol/myopathiescongenitalesstructurales.html

Myopathies Congénitales Structurales Menu général CISMeF Synonyme(s) myopathie centro-nucleaire ; myopathie myotubulaire Arborescence(s) myopathies congénitales structurales myopathies, structural, congenital appareil locomoteur, maladies système nerveux, maladies Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients 20 janvier 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

52. Mitochondrial Myopathies Mitochondrial myopathies up. Related topics broader, MuscularDiseases. MITOMAP a human mitochondrial genome database, MITOMAP http://bioresearch.ac.uk/browse/mesh/detail/C0162670L0189799.html

Mitochondrial Myopathies [up] Related topics: broader Muscular Diseases MITOMAP : a human mitochondrial genome database MITOMAP is a compendium of polymorphisms and mutations of the human mitochondrial DNA. Sections include the human mitochondrial sequence, mitochondrial human genome report, and mitochondrial references. Pages focusing on mitochondrial polymorphisms, substitutions, deletions, insertions and complex rearrangements are updated regularly. Information is also given on upcoming conferences relevant to researchers in this field. MITOMAP is provided by the Center for Molecular Medicine, Emory University, Atlanta, USA. DNA, Mitochondrial Genome, Human Mitochondria Mitochondrial Myopathies Last modified 28/Mar/2003 [Low Graphics]

53. Myopathies myopathies. Definition. myopathies are diseases of skeletal musclewhich are not caused by nerve disorders. These diseases http://www.healthatoz.com/healthatoz/Atoz/ency/myopathies.html

Encyclopedia Index M Home Encyclopedia Encyclopedia Index M Myopathies Definition Myopathies are diseases of skeletal muscle which are not caused by nerve disorders. These diseases cause the skeletal or voluntary muscles to become weak or wasted. Description There are many different types of myopathies, some of which are inherited, some inflammatory, and some caused by endocrine problems. Myopathies are rare and not usually fatal. Typically, effects are mild, largely causing muscle weakness and movement problems, and many are transitory. Only rarely will patients become dependent on a wheelchair. However, muscular dystrophy (which is technically a form of myopathy) is far more severe. Some types of this disease are fatal in early adulthood. Causes and symptoms Myopathies are usually degenerative, but they are sometimes caused by drug side effects, chemical poisoning , or a chronic disorder of the immune system. Genetic myopathies Among their many functions, genes are responsible for overseeing the production of proteins important in maintaining healthy cells. Muscle cells produce thousands of proteins. With each of the inherited myopathies, a genetic defect is linked to a lack of, or problem with, one of the proteins needed for normal muscle cell function. There are several different kinds of myopathy caused by defective genes: Central core disease Centronuclear (myotubular) myopathy Myotonia congenita Nemaline myopathy Paramyotonia congenita Periodic paralysis (hypokalemic and hyperkalemic forms) Mitochondrial myopathies.

54. The Physician And Sportsmedicine: Metabolic Myopathies And Physical Activity Metabolic myopathies and Physical Activity. By definition, metabolic myopathiesare disorders of substrate energy provision in skeletal muscle. http://www.physsportsmed.com/issues/2002/06_02/tarno.htm

Metabolic Myopathies and Physical Activity When Fatigue Is More Than Simple Exertion Mark A. Tarnopolsky, MD, PhD THE PHYSICIAN AND SPORTSMEDICINE - VOL 30 - NO. 6 - JUNE 2002 For CME accreditation information, instructions and learning objectives, click here This page is best viewed with a browser that supports tables. In Brief: Fatigue can have many causes in active people. A metabolic myopathythough uncommonly identified as a cause of fatigue during sporting eventsmust be considered in certain circumstances, and the diagnosis may be helpful for preventive and genetic counseling. In general, symptoms of disorders of glycogen breakdown and glucose utilization (glycogen storage diseases) occur during high-intensity exercise. Symptoms of disorders of fatty acid transport or oxidation and mitochondrial disorders occur after endurance exercise. Important investigations include forearm ischemic testing, electromyographic and nerve conduction studies, muscle biopsy (histology, enzyme, and DNA testing), and exercise testing. Most patients with metabolic myopathies can participate in sports with appropriate exercise adaptations and dietary manipulation. A ll athletes and most individuals have experienced muscle fatigue and pains. Muscle cramps, pain, and a feeling of fatigue are expected consequences of unaccustomed exercise or activities. With repeated activities, the body usually adapts to the training, and these symptoms abate. In some individuals, however, these symptoms can be persistent or extreme and may represent an underlying neuromuscular or neurometabolic disorder. By definition, metabolic myopathies are disorders of substrate energy provision in skeletal muscle.

55. NINDS Mitochondrial Myopathies Information Page Mitochondrial myopathies information sheet compiled by the National Institute ofNeurological Disorders and Stroke (NINDS). What is Mitochondrial myopathies? http://accessible.ninds.nih.gov/health_and_medical/disorders/mitochon_doc.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Mitochondrial Myopathies Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page 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?

56. Myopathies myopathies. http://www.silcom.com/~sblc/myopathies.html

Myopathies Myositis, Dermatomyositis, Polymyositis AARDA Polymyositis and Dermatomyositis ACR Patient Information on Myopathies Arthritis Foundation brochures Baylor College of Medicine Dermatomyositis ... Sharon's Myositis Home Page Return to the Resource List Go to Did you come to this page first? Check out our features on the Resource List and the Main Menu ! Also, visit our bookstore ! And please post on our Message Board Share your favorite links with us so we can add them to this page! E-mail us at sblc@silcom.com Tell us what you liked and didn't like about any links or our page in general. Fill out a Comment Card or e-mail us Find any BUGS on our pages? Something go to the wrong place, misspelled, out-of-date, or otherwise need fixing? Please let us know! Fill out a Bug Report Form or e-mail us. Thank you very much!!!

57. INFLAMMATORY MYOPATHIES IN THE 21ST CENTURY This worldrenowned authority on the subject propels us into the 21stcentury. INFLAMMATORY myopathies IN THE 21ST CENTURY published 10. http://www.rheuma21st.com/archives/cutting_edge_muscle.html

Editor's Note: Our new cutting-edge article, from Editor Paul Plotz, Chief of the Arthritis Branch at the National Institute of Health, deals with speculation regarding the future of research and treatment of the inflammatory myositides. This world-renowned authority on the subject propels us into the 21st century. INFLAMMATORY MYOPATHIES IN THE 21ST CENTURY published 10. August 1999 Download As A PDF File : To read and print PDF files, you will need free Adobe Acrobat Reader CINFLAMMATORY MYOPATHIES IN THE 21ST CENTURY The understanding of myositis has been slow. It is not a common affliction but can be a deadly one. This article should be seen as a wish list for the new millenium. Many genetic entities which present clinically as limb-girdle dystrophies have been defined, and there are many more to come. Some of these patients and even some with mitochondrial, metabolic, or other genetic myopathies are in our rheumatology clinics where they are called refractory polymyositis. With the development of molecular diagnostic tools, at the very least such patients should be spared misdirected anti-inflammatory therapies. I despair that many decades of earnest but sporadic effort have given us no better than five or ten point scales to express muscle strength and doubt that the future promises better, but well-designed measures of the activities of daily living get closer to our real therapeutic aims and soon, more precise and powerful non-invasive imaging techniques will be applied to the diagnosis of myopathies and be used to monitor therapy. I am less sanguine that any single blood test will be a useful general surrogate.

58. INFLAMMATORY MYOPATHIES IN THE 21ST CENTURY . ACCELERATED ATHEROSCLEROSIS IN THE ANTIPHOSPHOLIPID SYNDROME SECONDARYTO SLE IS THERE A ROLE FOE ANTIBETA2GPI ANTIBODIES? by http://www.rheuma21st.com/archives/cutting_edge_atherosclerosis.html

ACCELERATED ATHEROSCLEROSIS IN THE ANTIPHOSPHOLIPID SYNDROME SECONDARY TO SLE: IS THERE A ROLE FOE ANTI-BETA2GPI ANTIBODIES? by Jacob George and Yehuda Shoenfeld, The Research Unit of Autoimmune Diseases and the Department of Medicine 'B', Sheba Medical Center Tel-Hashomer and Sackler Faculty of Medicine, Tel-Aviv University, Israel published 4. October 1999 Download As A PDF File : To read and print PDF files, you will need free Adobe Acrobat Reader Correspondence to: Y. Shoenfeld, M.D., Department of Medicine 'B', Sheba Medical Center, Tel-Hashomer, 52621, Israel. Tel: 972-3-5302652. Fax: 972-3-5352855. E-mail: Shoenfel@post.tau.ac.il The antiphospholipid syndrome (APS) encompasses the combination of recurrent fetal loss, arterial and venous thrombosis, and thrombocytopenia in association with the presence of antiphospholipid antibodies (aPL) . APS can occur as a separate entity (primary APS) or be associated with other immune-mediated diseases and thus referred to as secondary APS. Secondary APS is most commonly associated with systemic lupus erythematosus (SLE). The prevalence of APS in patients with SLE is in the 50% range. Progress in the understanding and treatment of SLE led to a significant improvement in the survival of these patients. In the early 1950s, the 5-year survival rates were approximately 50%

59. Inflammatory Myopathies Inflammatory myopathies. Inflammatory myopathies are a group of muscle diseasesthat cause inflammation and degeneration of the skeletal muscle tissues. http://www.clevelandclinic.org/health/health-info/docs/2000/2088.asp?index=8858

60. Myopathies | Vhihealthe myopathies. Definition. myopathies are diseases of skeletal muscle whichare not caused by nerve disorders. These diseases cause the http://www2.vhihealthe.com/topic/topic100587191

You are here: Home Health A to Z Myopathies Turkington, Carol A. Below: Definition Description Causes and symptoms Diagnosis ... Resources Definition Myopathies are diseases of skeletal muscle which are not caused by nerve disorders. These diseases cause the skeletal or voluntary muscles to become weak or wasted. Description There are many different types of myopathies, some of which are inherited, some inflammatory, and some caused by endocrine problems. Myopathies are rare and not usually fatal. Typically, effects are mild, largely causing muscle weakness and movement problems, and many are transitory. Only rarely will patients become dependent on a wheelchair. However, muscular dystrophy (which is technically a form of myopathy) is far more severe. Some types of this disease are fatal in early adulthood. Causes and symptoms Myopathies are usually degenerative, but they are sometimes caused by drug side effects, chemical poisoning, or a chronic disorder of the immune system. Genetic myopathies Among their many functions, genes are responsible for overseeing the production of proteins important in maintaining healthy cells. Muscle cells produce thousands of proteins. With each of the inherited myopathies, a genetic defect is linked to a lack of, or problem with, one of the proteins needed for normal muscle cell function. There are several different kinds of myopathy caused by defective genes: Central core disease Centronuclear (myotubular) myopathy Myotonia congenita Nemaline myopathy Paramyotonia congenita

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