Extractions: Veure els fitxers associats amb aquesta Tesi Autor Gámez Carbonell, Josep 12784jgc@comb.es URN TDX-1021103-174532 Contribución a la caracterización clínica y genética de la enfermedad de McArdle Universitat UAB Departament/Institut 417 - DEPARTAMENT DE MEDICINA Ciències de la Salut 61 - Medicina B-4.618-2003 / 84-688-1038-X Director(s)/Tutor(s) Andreu, Antoni L.. Director de la Tesi Cervera, Carlos. Director de la Tesi Paraules clau Genetic Mcardles disease Myophosphorylease Data de defensa Resum INTRODUCCIÓN. La enfermedad de McArdle (Glucogenosis tipo V) es una miopatía metabólica producida por una deficiencia de miofosforilasa, enzima que inicia la degradación del glucógeno con liberación de glucosa-1-fosfato. Los pacientes presentan típicamente intolerancia al ejercicio, mialgias y contracturas. Aproximadamente la mitad de los pacientes presentan mioglobinuria. Se han descrito otras formas de presentación clínica diferentes del fenotipo clásico. Los estudios genéticos moleculares han identificado 32 mutaciones distintas. El defecto molecular más frecuente es la mutación nonsense R49X en el exón 1. Se están describiendo, cada vez con más frecuencia, mutaciones privadas para ciertos grupos étnicos.
Muscle Diseases Phosphorylase Deficiency, mcardles disease or Glycogenosis type 5, Isometricexercise causes muscle damage, experience common symptoms very quickly. http://www.bae.ncsu.edu/research/blanchard/www/465/textbook/otherprojects/2002/g
Extractions: Previous to this information and technology age, not much was known about the body. As time went by, the bodys anatomy was better understood, but the abnormalities in human bodies were still a mystery to be solved. As time progressed, more and more information was provided about the knowledge of diseases. Today, research is still going on to find deeper knowledge about diseases and the prevention and/or treatment methods that will alleviate the pains of those who have these diseases. Muscle diseases are one of many categories of disease. Below are some common and some not-so-common muscle diseases that have been researched and tested. Some of these diseases are genetic, while others come from deficiencies of substances or too much of specific substances in the body. Myasthenia Gravis Muscular Dystrophy ... General Information about Muscular Disorders Myasthenia gravis (also known as MG) is an autoimmune disorder that initially affects the skeletal muscles. It is a disease in which the acetylcholine (AcCh) receptors at the skeletal muscle motor end plate are destroyed by anti-acetylcholine receptor antibodies that block the binding sites to the AcCh receptor. This anti-AcCh receptor antibody destroys the receptors faster than the receptors would be destroyed in normal skeletal muscle. Acetylcholine is the neurotransmitter that is responsible for the initiation of a muscle contraction. When AcCh receptors are blocked, acetylcholine cannot cross the membrane of the motor end plate to initiate opening of the sodium channels and cause depolarization.
McArdles Sjukdom - Små Och Mindre Kända Handikappgrupper Flodmark B, Ockander L. Misstänk mcardles sjukdom vid muskelsmärta. Läkartidningen1995; 92 20202022. Haller RG. Treatment of McArdle disease. http://www.sos.se/smkh/2003-29-167/2003-29-167.htm
Extractions: HTML-version:1.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. myofosforylasbrist fosforylas Orsak till sjukdomen/skadan Fosforylas myofosforylas fosfokreatinkinas (CK). Enstaka personer med McArdles sjukdom har endast delvis avsaknad av myofosforylas . Dessa personer kan ha lindrigare symtom. myofosforylas.
Pompes Sjukdom - Små Och Mindre Kända Handikappgrupper Särskilt informationsmaterial om mcardles sjukdom finns i Socialstyrelsens kunskapsdatabas GSD(glucogen storage disease) är den engelska beteckningen för http://www.sos.se/smkh/2000-29-116/2000-29-116.htm
Extractions: Version:2.0 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Orsak till sjukdomen/skadan surt maltas Symtom surt maltas Praktiska tips Resurspersoner International Pompe Association, Internetadress www.worldpompe.org, e-post kevin@worldpompe.org
Muscular Dystrophy Campaign McArdle's Disease What is McArdle s disease? McArdle s disease is a metabolic muscle disorder firstdescribed in 1951 by Dr Brian McArdle. How is McArdle s disease diagnosed? http://www.muscular-dystrophy.org/information/keyfacts/mcardles.html
Extractions: David N Russell November 2002 Written by Dr Ros Quinlivan, Consultant Paediatrician, for the Muscular Dystrophy Campaign What is McArdle's disease? McArdle's disease is a metabolic muscle disorder first described in 1951 by Dr Brian McArdle. The disorder is also called Glycogen Storage Disease Type V (GSD V). People born with McArdle's disease are unable to produce an enzyme called muscle phosphorylase. This enzyme is important in producing the fuel source required by the skeletal muscles for exercise. What are the symptoms? People with McArdle's disease develop severe muscle pain and fatigue in the first few minutes of exercise. If exercise is continued despite the pain, a severe muscle spasm or contracture will develop. This results in muscle damage leading to myoglobinuria, a dark discolouration of the urine. Many people with the condition remember painful symptoms from early childhood but the disorder is rarely diagnosed before adulthood. Some people notice a worsening of their symptoms in middle-age and this may be accompanied by some muscle wasting, especially over the shoulders and back. Most people live normal lives and learn to improve their exercise tolerance using a âsecond windâ.
Glycogen Storage Disease American Liver Foundation, Type I Glycogan Storage disease Pamphlet;mcardles Page, Type V information, family page by RSpeary, UK. http://www.kumc.edu/gec/support/glycogen.html
Extractions: VI (liver phosphorylase deficiency, Hers) IX (liver glycogen phosphorylase kinase deficiency) Association for Glycogen Storage (AGSD) GSDnet (Glycogen storage disease Network), electronic mailing list for families, individuals, and professionals, listserv@maelstrom.stjohns.edu Pompe Disease Page , United Kingdom Rue G. Guynemer
Oswestry clinic. mcardles s disease Clinic. Held 4 monthly at RJAH. This isa clinic specifically for patients with metabolic myopathies. http://medweb.uwcm.ac.uk/neuromuscularwales/services/clinics/oswestry.htm
Extractions: Oswestry Lead Consultant: Dr Ros Quinlivan Consultant Paedaitrican with a speciality interest in neuromuscular disorders. (also based at the Birmingham Children's Hospital) Dr Debbie Short Consultant in Rehabilitation and spinal injuries Mr Gwyn Evans Consultant Paediatric Orthopaedic Surgeon Clinical Geneticists monthly in rotation: Prof Peter Harper All are based in the Institute of Clinical Genetics, University Hospital of Wales, Cardiff Dr Jane Fenton-May Prof Angus Clark Dr Mark Rogers Mrs Carolyn Evans Clinical nurse specialist Mrs Lynn Groves Physiotherapist, also based at the Neuromuscular Centre in Winsford (NMC) Ms Sally McKenzie Family Care Officer Mr Chris Reid Family Care Officer These posts are funded by the Muscular Dystrophy Campaign, to whom we are most grateful) Pathology Prof Caroline Sewry Muscle Pathologist and Clinical Scientist, also based t the Hammersmith Hospital, London Dr Man Scientist working with Professor Sewry, developing fibroblast and muscle line cultures for diagnostic analysis Scoliosis Service Mr Trevendi Mr Eisenstein Spinal Surgeons Mr Jaffray Mr Ahmed Patients are fast tracked to this service by Mr Evans if needed, following assessment in the muscle clinic. Surgery is usually undertaken at the North Staffordshire Hospital with transfer to RJAH for post-operative care once stable.
Encyclopedia M-Mm (Search FastHealth.com) Encyclopedia M-Mm blood loss Maternal deprivation syndrome Mathematics disorder Maxilla Maxillofacialinjury mcardles syndrome glycogen storage disease type V McBurneys point http://www.fasthealth.com/encyclopedia/encyclopedia_M-Mm.php
AllRefer Health Health Links Directory Conditions And Diseases Sites. McArdle s disease Resources Information, resources, and contacts forthose affected by this disease or any of the glycogen storage diseases. http://health.allrefer.com/links/genetic-disorders-mcardles.html
Diplomate In Neurology, Module 1--Dallas, Amsterdam De Stefano, N.; Argov, Z.; Matthews, PM; Karpati, G.; Arnold, DL Impairment of musclemitochondrial oxidative metabolism in mcardles s disease. MuscleNerve. http://www.dendrites.com/module1.html
Extractions: Diplomate in Neurology, Module 1 Required ReadingDallas, Amsterdam Frederick R Carrick , DC, PhD, DACAN, DABCN, DACNB, DAAPM, FACCN Professor of Neurology Module one of the Diplomate in Neurology Program will be an interactive study of neuron theory as it applies to chiropractic practice. This module is a clinical module where the breadth of information common to all health care professionals will be used as a basis from which application based knowledge will be developed. The following pages in Kandel , Schwartz and Jessell: IIIrd Edition : Principles of Neural Science are required reading in preparation for module 1. Part I An Overall View pp 2-16 Part II Cell and Molecular Biology of the Neuron pp 34-120 Part III Elementary Interactions Between Neurons: Synaptic Transmission pp 120-135 pp 153-225 pp 258-270 Neuron Theory - Module 1 Essay I have used the following studies in my preparation of the depth of information in my lecture for module 1. I will explore the concepts of immediate early gene responses to a variety of frequencies of integration. Specifically I will develop the concept of neuronal membrane and action potentiation in concert with fuel delivery. The disease forms of aberrations of these systems will be emphasized so that the participant will be able to associate application with the breadth and depth of the module. We will discuss synaptogenesis and the embryologic relationships of human kind to clinical applications. A comparative anatomical review will allow the participant to understand behaviour in their patients that is more basic to lower life forms. A basic review of biochemistry may be helpful in this module. Participants must bring diagnostic equipment to each module as this round of the program is a hands on application based learning module.
MDAchat | Muscular Dystrophy Association of it, but they are thinking that now it doesn t sound like mcardles but a Doctorsmust see and act upon the progressive aspects of this disease without trying http://database.azstarnet.com/html/mda/transcripts/20031214McArdles-Chat-Group.h
Extractions: Looking at the smiling face of beautiful little Nicole McArdle, it is hard to believe that she has been battling a potentially fatal liver disease since birth. Nicole, daughter of Helen and Aidan McArdle, Warrenpoint, was born with biliary atresia, a congenital absence or closure of the ducts that drain bile from the liver. If left untreated, damage to the liver can be so extensive that few children survive beyond the age of two.
1300 Von Gierke) + lc Glycogen Storage disease Type 2 (Pompe) Glycogen Storage diseaseType 3 (Forbes) Glycogen Storage disease Type 5 (mcardles) Glycogen Storage http://www.islandia.is/viggast/efnaskiptasjukdomar.htm
Dictionary Definition Of MCARDLE'S DISEASE BS397 Neuromuscular Disorders V (mcardles pp), VII (Taruis pfk). . Lipid Storage, CPT, Carnitine. NEUROGENIC, CENTRAL(Neuronal), . Spinal Muscular Atrophy (SMA), Motor Neuron disease (MND/ALS). http://www.dictionarybarn.com/MCARDLES-DISEASE.php
Welcome To PASS-PORT Cortes, CW, and Thompson, WR Nutrition, Exercise and Glycogen Storagedisease A review of mcardles Syndrome and Von Griekes disease. http://ull.pass-port.org/main/facultyDetails.asp?ID=19232
Musculoskeletal als/. McArdle s disease http//www.mdausa.org/disease/mpd.html http//home.att.net/~samdave/mcardles/mcframe.html.Myasthenia Gravis http://www.lexington1.net/lv/wkms/hp.nsf/Files/wkmwebquest/$FILE/musculoskeletal
Extractions: What does our skeleton do for us? How about our muscles? Every movement and gesture we take with our body - even the look you cut someone in the hall is the product of the fine tuned work of the skeletal and muscular systems. How do our muscles and bones work together so well During this activity you will find out what the parts of these systems help us to move every day, and what makes these systems so important to our human bodies. Essential Question:
