61. The Beggs Lab - Congenital Myopathies With Non-specific Findings Learn about the research on genetics congenital myopathies with nonspecific findings. http://www.chb-genomics.org/research/beggs/cm.html

Diseases: Congenital Myopathies with Non-Specific Findings Congenital Fiber Type Disproportion Multiminicore Disease Myotubular Myopathy Nemaline Myopathy More on this site: The Myopathies Muscle Anatomy and Genetics Participating in Research Ways to Help ... Frequently Asked Questions The congenital myopathies are rare disorders that result in muscle weakness of variable severity. Some patients are affected from birth, while others may develop symptoms in childhood or adulthood. Although patients with some types may not survive past the first few years of life, others may walk independently through adulthood and have families of their own. The diagnosis of congenital myopathies is usually made from a muscle biopsy. Sometimes, specific muscle changes such as rods or tubules are found in these biopsies. However, on occasions, the muscle biopsy of a patient with a congenital myopathy does not reveal specific changes that would help to establish a diagnosis. Our laboratory is interested in studying DNA and muscle biopsy samples of these patients since it would provide insight into the genetic cause of their muscular condition. Identification of these genes could have direct clinical benefit to patients and their families by allowing for specific diagnostic testing such as carrier detection and prenatal diagnosis for those who wish. Furthermore, understanding the genetic cause (s) of congenital myopathies will increase our understanding of muscle biology and provide insights into future development of specific treatments and therapies.

62. Www.biology.washington.edu/bsa/bio401-sum97/AA%20P Article NINDS Mitochondrial myopathies Information Page NINDS Medical article NINDS Mitochondrial myopathies Information Page NINDS including all symptom, diagnosis, misdiagnosis, treatment and prevention information. http://www.biology.washington.edu/bsa/bio401-sum97/AA Papers/AA MERRF 1.html

63. Medical Dictionary: Mitochondrial Myopathies - WrongDiagnosis.com Medical dictionary definition of Mitochondrial myopathies as a medical term including diseases, symptoms, treatments, and other medical and health issues. http://www.wrongdiagnosis.com/medical/mitochondrial_myopathies.htm

Home Symptoms Diseases Risks ... Dictionary 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: Mitochondrial myopathies Next chapters: Mitosis Mitral incompetence Mitral insufficiency Mitral valve stenosis ... Feedback Medical Dictionary: Mitochondrial myopathies Medical dictionaries: Medical dictionary Medical malpractice dictionary Medical Acronymns/Abbreviations Mitochondrial myopathies : Another name for Mitochondrial diseases (or close medical condition association). Mitochondrial myopathies : Mitochondrial myopathies is listed as a type of (or associated with) the following medical conditions in our database: All Disease Categories Systemic disorders Mitochondrial myopathies (medical condition): Any of a group of mitochondrial disorders affecting cell metabolism and especially muscles. Mitochondrial myopathies (medical condition): Mitochondrial diseases are very rare. However, they are very interesting because they are genetic diseases, and yet are very different to all other types of genetic disease. Surprisingly, there is actually DNA in the body that is not on any of the 46 chromosomes. This "other DNA" was discovered a long time ago but has only recently been linked to disease. Currently, mitochondrial DNA is an extremely active area of research. See also article Mitochondrial disorders Mitochondrial myopathies : Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria - small, energy-producing structures found in every cell in the body that serve as the cells' "power plants." Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occurs. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers (MERRF), and mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS).

64. Bulletin On The Rheumatic Diseases, Volume 51, Number 2 - IBD Some metabolic myopathies are primary and the result of known biochemical Mitochondrial myopathies may cause each presentation but are more often http://www.arthritis.org/research/bulletin/vol51no3/51_3_metabolic.asp

Welcome! Log In Create Profile Search Arthritis.org Keyword advanced search Español Bulletin on the Rheumatic Diseases Research Update ... 2003 Research Conference Summary This publication is made possible by an educational grant from Amgen Summary Points/Introduction Differential Diaganosis: Idiopathic Inflammatory Myopathies Differential Diaganosis: Metabolic Myopathies Differential Diagnosis: Other Causes of Myopathy Testing for Muscle Disease Treatment of Myopathies ... Archives Volume 51, Number 3 Myopathic Diseases Robert L. Wortmann, MD Department of Internal Medicine University of Oklahoma College of Medicine Tulsa, OK Differential Diagnosis: Metabolic Myopathies Some metabolic myopathies are primary and the result of known biochemical defects that alter the muscle’s ability to maintain adequate levels of ATP. These can be attributed to defects in glycogen, lipid, or mitochondrial metabolism. Others are secondary and caused by various endocrine disorders, electrolyte abnormalities, or drug toxicities. To date, 11 different diseases caused by an underlying defect in glycogen synthesis, glycogenolysis, or glycolysis have been identified (

65. Bulletin On The Rheumatic Diseases, Volume 51, Number 2 - Enteric Reactive Arthr Metabolic myopathies Differential Diagnois Other Causes of Myopathy The treatment of the inflammatory myopathies is largely empiric as controlled http://www.arthritis.org/research/bulletin/vol51no3/51_3_treatment.asp

Welcome! Log In Create Profile Search Arthritis.org Keyword advanced search Español Bulletin on the Rheumatic Diseases Research Update ... 2003 Research Conference Summary This publication is made possible by an educational grant from Amgen Summary Points/Introduction Differential Diagnosis: Idiopathic Inflammatory Myopathies Differential Diagnosis: ... Testing for Muscle Disease Treatment of Myopathies References Editorial Board Contact Us Sign Up ... Archives Volume 51, Number 3 Myopathic Diseases Robert L. Wortmann, MD Department of Internal Medicine University of Oklahoma College of Medicine Tulsa, OK Treatment of Myopathies The treatment of a myopathic process depends on the diagnosis. However, before initiating any therapy, the patient’s muscle strength should be assessed. Without accurate baseline measurements, it is difficult to assess progress in cases in which treatment response is less than desired. In addition, physical therapy is an important component of treatment. It can be used to prevent contracture, to prevent atrophy and to increase endurance. The treatment of the inflammatory myopathies is largely empiric as controlled clinical trials are severely lacking. Glucocorticoids are the standard first-line medications. Prednisone is usually given in a single dose of 1 mg/kg/day. In severe cases, the daily dose can be divided. In general, the earlier in the disease course that therapy is initiated, the more effective it is.

66. Map & Graph: Countries By Mortality: Other Myopathies Other myopathies; Druginduced myopathy; Alcoholic myopathy; Myopathy due to other toxic agents; Periodic paralysis; Inflammatory myopathy, not else http://www.nationmaster.com/graph-B/mor_oth_myo

Supporter Benefits Signup Login Sources ... Pies Factoid #69 Japan's water has a very high dissolved oxygen concentration - but not enough to prevent drowning in the bath Interesting Facts Make your own graph: Hold down Control and click on several. Compare All Top 5 Top 10 Top 20 Top 50 Top 100 Bottom 100 Bottom 20 Bottom 10 Bottom 5 All (desc) in category: Select Category Agriculture Crime Currency Democracy Disasters Economy Education Energy Environment Food Geography Government Health Identification Immigration Industry Internet Labor Language Lifestyle Media Military Mortality People Religion Sports Taxation Transportation with statistic: view: Correlations Printable graph / table Pie chart Scatterplot with ... * Asterisk means graphable. What's new? Our next offering Latest newsletter Student area Lesson plans Top Countries The most requested countries (descending order): United States Canada India China ... Mortality : Other myopathies View this stat: Per capita Show map full screen Country Description Definition: Total for all ages and sexes. Database compiled January 2004. Total of figures for: Other myopathies Drug-induced myopathy Alcoholic myopathy Myopathy due to other toxic agents Periodic paralysis Inflammatory myopathy, not else

67. Map & Graph: Countries By Mortality: Other Myopathies (per Capita) Other myopathies; Druginduced myopathy; Alcoholic myopathy; Myopathy due to other toxic agents; Periodic paralysis; Inflammatory myopathy, http://www.nationmaster.com/graph-T/mor_oth_myo_cap

Supporter Benefits Signup Login Sources ... Pies Factoid #121 What is in a name? More than 90% of people in Bhutan, Burundi and Burking Faso are involved in agriculture Interesting Facts Make your own graph: Hold down Control and click on several. Compare All Top 5 Top 10 Top 20 Top 50 Top 100 Bottom 100 Bottom 20 Bottom 10 Bottom 5 All (desc) in category: Select Category Agriculture Crime Currency Democracy Disasters Economy Education Energy Environment Food Geography Government Health Identification Immigration Industry Internet Labor Language Lifestyle Media Military Mortality People Religion Sports Taxation Transportation with statistic: view: Correlations Printable graph / table Pie chart Scatterplot with ... * Asterisk means graphable. What's new? Our next offering Latest newsletter Student area Lesson plans Top Countries The most requested countries (descending order): United States Canada India China ... Mortality : Other myopathies (per capita) View this stat: Totals Show map full screen Country Description Definition: Total for all ages and sexes. Database compiled January 2004. Total of figures for: Other myopathies Drug-induced myopathy Alcoholic myopathy Myopathy due to other toxic agents Periodic paralysis Inflammatory myopathy, not else Per capita figures expressed per 1000000

68. Muscular Dystrophies/Myopathies Physicians, medical students, and patients can get information about the diagnosis and treatment of neurological diseases and disorders. http://ucneurology.uchicago.edu/Neurological_Disorders/NeuroMuscular/Muscular_Dy

Muscular Dystrophies and Myopathies Myopathies are diseases of the muscles. They can be caused by an inherited genetic abnormality (as in muscular dystrophy) or an abnormality of the immune system (such as polymyositis). These disorders can develop at any time from birth through adulthood. University of Chicago neurologists have expertise in treating many different muscle diseases. There are many types of muscular dystrophy (MD). These diseases are classified according to the muscle groups involved and the age of onset. Some of these muscular dystrophies result in premature death; others may allow the person to live for decades with varying degrees of disability. Symptoms Muscular dystrophy is characterized by muscle weakness in various parts of the body, depending on the type of MD or myopathy. Muscle weakness progresses (worsens) over time. Initial symptoms usually develop gradually. Diagnosis Diagnosis is based on a comprehensive physical examination and sophisticated diagnostic tests. The effectiveness of therapy depends upon accurate diagnosis of the precise type of MD, so physicians here may use advanced diagnostic techniques such as genetic analysis and biopsy of muscle or nerve tissue to pinpoint the type of neuromuscular disease or myopathy. The state-of-the-art neurophysiology lab at the University of Chicago Hospitals provides a full array of diagnostic tests including electrodiagnostic studies. Treatment Adult patients receive care in a multidisciplinary clinic which is sponsored by the

69. Inflammatory Myopathies For people with inflammatory myopathies, inflammatory cells surround, invade and destroy normal muscle fibers as though they were defective or foreign to http://www.clevelandclinic.org/health/health-info/docs/2000/2088.asp?index=8858&

70. Cleveland Clinic > Neuroscience > What We Treat > Nerve And Muscle Disease > Myo myopathies are defined as diseases of skeletal muscle and can have many causes. Accordingly, myopathies can present in a variety of ways, but one of the http://www.clevelandclinic.org/neuroscience/treat/nerve/myopathies.htm

Contact Us Appointments What We Treat About Us ... Related Links Information for Health Care Professionals Continuing Medical Education Outcomes Nerve and Muscle Disease Myopathies Introduction Myopathies are defined as diseases of skeletal muscle and can have many causes. Accordingly, myopathies can present in a variety of ways, but one of the cardinal features is muscle weakness. Weakness can affect muscles of the eyes, face, arms, legs, trunk, swallowing, and breathing. While certain myopathies can present with muscle pains, cramps, and stiffness, these features are non-specific and can be seen in many other diseases, including those outside the realm of neuromuscular disorders. The most common myopathies seen in the Neuromuscular Center are inflammatory myopathies, muscular dystrophies, metabolic myopathies, myopathies associated with systemic disorders, and myopathies due to certain medications. Diagnosis Treatment The treatment of myopathies is multidisciplinary and depends on the type of myopathy. Certain types of myopathies can be treated with immune-suppressant agents and IVIG. Most myopathies require the use of supportive services, such as physical and occupational therapy, pulmonary medicine, cardiology, dietary management, and speech/swallowing therapists. Surgical treatment of spine and limb deformities is used in long-standing cases. Cleveland Clinic Home Privacy Statement Site Map

71. Congenital Myopathies - Wheeless' Textbook Of Orthopaedics congenital myopathies are a group of different conditions, w/ variable children w/ congenital myopathies present as floppy babies in whom http://www.wheelessonline.com/ortho/congenital_myopathies

Duke Orthopaedics presents Wheeless' Textbook of Orthopaedics Site Index A - Z Search Site by Word Home Contact Us My Account Congenital Myopathies - See: myopathic disorders - Discussion: - congenital myopathies are a group of different conditions, w/ variable genetic patterns of inheritance, that lead to muscle weakness in infancy and early childhood; - include central core disease, nemaline myopathy, myotubular myopathy, congenital fiber type disproportion, and centronuclear myopathy; - children w/ congenital myopathies present as "floppy" babies in whom weakness leads to failure to achieve normal motor milestones; - generally they improve with age, but children are never athletically adept, and they may deteriorate and die of respiratory failure; Current Concepts Review. The Diagnosis and Orthopaedic Treatment of Inherited Muscular Diseases of Childhood. Steve Rowlands website graphic design at www.steverowlands.com http://www.DiamondSea.com

72. MITOCHONDRIAL MYOPATHY LINKS concerted action for collaboration in research on metabolic myopathies. myopathies http//www.ninds.nih.gov/patients/disorder/mitochon/mitochon.htm http://www.iwindow.com/mito/

Mitochondrial Myopathy Links If you are looking for online support or have questions about mitochondrial disorders please visit the mitochondrial messageboard and sign up for the IMDN's E-mail discussion forum . These services are free and are very good resources to start with. Although most mitochondrial disorders have very similar symptoms, each case varies considerable. What will work for one may greatly harm another. Most people with mitochondrail disorders are very sensitive to synthetic medications. Some do better on a vegetarian diet and some benefit from Parasite cleanses My son is anemic and needs to take an herbal iron supplement from the health food store. The synthetic form the doctor prescribed didn't work and simply made him constipated. The liquid herbal form we use has been a God send in helping deal with his temper. It also stopped the bleeding in his stool after 5 days which has not returned since. We first used Floradix with yeast. The kind without yeast for some reason did not work. Now we use Harmony from Awareness . This was just as effective as the Floradix for his temper but helped with his sleep disorder as well. My daughter needs to take evening primrose oil capsules consistently. This has helped settle her moods and has even help with her visual reversal of numbers and letters at school which has been an ongoing problem.

73. Neuromuscular Center - Conditions (Mitochondrial Myopathies) Mitochondrial myopathies Succinate Dehydrogenase Fumarase Deficiency Mitochondrial DNA Deletion Mitochondrial DNA Point Mutation http://www.ieemphd.org/NMC Homepage/mitochondrial_myopathies.htm

Metabolic Myopathies Symptoms Glycolytic Defects Lipid Defects Mitochondrial Myopathies ... Other Mitochondrial Myopathies Succinate Dehydrogenase Fumarase Deficiency Mitochondrial DNA Deletion Mitochondrial DNA Point Mutation ... Pyruvate Dehydrogenase source: Ronald G. Haller, MD Rapid progress has been made in clarifying the molecular basis of these disorders. Deletions of mitochondrial DNA, which codes for some peptide subunits in respiratory chain complexes I, III, IV and V, have been identified in many patients with progressive external ophthalmoplegia, including virtually all patients with Kearns-Sayre syndrome. Mitochondrial DNA point mutations have been identified in patients with MERRF and MELAS. Nuclear genomic defects have been identified on the basis of inheritance pattern or suspected on the basis of selective respiratory chain enzyme defects. Depletion or deficiency of mtDNA has been found to underlie some mitochondrial myopathies. Unfortunately, progress in treatment of these disorders has lagged and remains largely anecdotal and empirical. In some cases, the metabolic block may be at least partially bypassed. The Krebs cycle intermediate succinate donates electrons to complex II, and in vitro is capable of supporting mitochondrial respiration in the presence of inhibitors of complex I. Thus, succinate, 2 to 6 g per day, may benefit patients with selective or predominantly complex I defects. No side effects have been reported in the small number of patients so treated. In a patient with a selective defect involving complex III of the electron transport chain, exercise intolerance responded to treatment with menadione (vitamin K

74. Disease - Distal Myopathies Distal myopathies. Disease Name, Distal myopathies. SearchTerm, Welander s distal myopathy. Inheritance Type, autosomal dominant (AD) and autosomal http://disability.ucdavis.edu/resources/diseases/list/disease.asp?id=13

75. Mitochondrial Myopathies is a glossary of terms, and links to other mitochondrial Web resources. Organizations, Nonprofit; Mitochondrial myopathies; Great Britain; Charities; http://omni.ac.uk/browse/mesh/D017240.html

low graphics Mitochondrial Myopathies other: Friedreich Ataxia Children's Mitochondrial Disease Network The Children's Mitochondrial Disease Network is a UK based charity specializing in the complexities of mitochondrial and associated disorders. Information is provided on membership of the charity, patrons and medical advisors associated with the charity, and a brief history of the charity. In addition there is a glossary of terms, and links to other mitochondrial Web resources. Organizations, Nonprofit Mitochondrial Myopathies Great Britain Charities Last modified: 09 Sep 2005

76. Myopathies The role of immunocytochemistry in congenital myopathies. New insights into the pathogenesis of congenital myopathies. J Child Neurol. http://www.humpath.com/article.php3?id_article=689

77. Congenital Myopathies congenital myopathies. Printable version. Congenital myopathies are clinical and genetic heterogeneous disorders characterized by skeletal muscle weakness http://www.humpath.com/article.php3?id_article=5879

78. IRSC - Neurological Disorders, Myopathies The Internet Resources for Special Children (IRSC) Global disABILITY resource is dedicated to communicating information relating to the needs of children http://www.irsc.org:8080/irsc/irscmain.nsf/sub?readform&cat=Neurological Disorde

79. Strabismus Online Information Resource :: Atlas Of Strabismus :: Myopathies With Atlas of strabismus myopathies With Strabismus. 011 Myotonic dystrophy, XT pseudo WEBINO, cataracts 023- Myasthenia Gravis 080- CPEO (pseudo INO) http://sprojects.mmi.mcgill.ca/ophthalmology/atlas/myopathies/

/* Static Top Menu Script By Constantin Kuznetsov Jr. (GoldenFox@bigfoot.com) Featured on Dynamicdrive.com For full source code and installation instructions to this script, visit Dynamicdrive.com */ Myopathies With Strabismus 011- Myotonic dystrophy, XT pseudo WEBINO, cataracts 023- Myasthenia Gravis 080- CPEO (pseudo INO)

80. The Physician And Sportsmedicine: Metabolic Myopathies And Physical Activity Most patients with metabolic myopathies can participate in sports with appropriate By definition, metabolic myopathies are disorders of substrate energy 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 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.

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