Peripheral Neuropathy - New Treatments, January 22, 2005 Glycogenoses autosomal recessive Type V mcardles disease phosphorylasedeficiency results in storage of glycogen in muscles. http://www.medical-library.org/journals4a/motor_unit.htm
Extractions: Click here to view next page of this article The peripheral neuropathies can be subdivided into two main groups. One of these is dependent upon a degeneration of the distal axon, usually called by some metabolic disorder. These are known as chronic axonal neuropathies. All of these neuropathies share certain common features. They are usually subacute and convert into chronic illness. The clinical findings are symmetrical and primarily distal, usually a mixed sensory and motor disorder, with absent reflexes in the areas affected. Even with reversal of the metabolic disorder, recovery is slow and very incomplete. The most common causes of axonal neuropathy are drugs such as Vincristine and Furadantin, alcoholism, chronic nutritional disorder, diabetes, uremia, and some industrial exposures such as hexane and acrylamide. The heavy metals such as lead and other inorganic toxins, such as arsenic, have virtually disappeared from clinical practice There is a chronic demyelinating neuropathy which is related to Guillain-Barre, although usually not a direct outcome of it. This is known as chronic inflammatory polyradiculoneuropathy. The condition has a relapsing course and often presents with asymmetrical, painless weakness and sensory loss. Metabolic disorders are the most common causes of neuropathy in our population.
Creatine FAQ's Creatine has also been used successfully to improve patients with neuromusculardiseases such as mcardles disease, neuropathic disorders, http://www.nutrasense.com/creatinefaqs.html
Extractions: To date there have been well over 75 research articles published about creatine in various journals, as well as a number of papers presented at various meetings such as the National Strength and Conditioning Associations Symposium. These studies reported no negative side effects. The only consistent side effect has been an average water weight gain of 3-5 lbs. Simply put, with the exception of carbohydrates, creatine is the most extensively studied nutritional sports supplement available to today's athlete. Even though creatine supplementation is most common with athletes it has a multitude of uses ranging from infants to the elderly. Creatine has been used successfully to treat infants with extrapyramidal movement disorders and creatine deficiencies in the brain. Creatine has also been used successfully to improve patients with neuromuscular diseases such as McArdles disease, neuropathic disorders, inflammatory myopathies, diomyopathy, mitochondrial cytopathy, dystrophies/congenital myopathies, and ALS - Lou Gehrigs disease. Study Shows Creatine Strengthens Elderly and Patients with Neuromuscular Disease - USA Today
Extractions: His muscle biopsy showed non specific histological changes and histochemical examination and enzyme histochemical staining showed no enzyme deficiency. Discussion Back Content Next Introduction Myoglobinuria induced by excessive exercise even though described is a rare entity. Myoglobinuria is caused by a variety of causes including traumatic muscle injury, drugs and toxins, genetic disorders like McArdles disease, phosphofructokinase deficiency, alpha glucosidase deficiency, carnitine palmityl transferase deficiency, amylo-1, 6-glucosidase deficiency and phosphohexo-seisomerase deficiency. Infections like influenza, tetanus, legionella infection, shigellosis and salmonellosis, coxsackie virus, leptospirosis and streptococcal infections can also cause myoglobinuria. Excessive muscle activity, ischemia, electrolyte and endocrine disorders and immunologic diseases like polymyositis and dermatomyositis are rare causes of the same. Though the list is wide the rhabdomyolysis as such is not very common. Case Report A 19 year old non alcoholic boy, who performed a three hours continuous vigorous dance program on a hot humid summer afternoon (in a coastal city in northern Kerala) was admitted in our hospital 12 hours following this event with myalgia and acute renal shut down. He was able to drink water only after the program has ended. Few hours after this event he passed around 100ml of dark coloured urine after which he did not pass any urine till admission. In the past also he has had significant myalgia following exercise, but there were no definite urinary complaints. There was no similar history in the family. On examination he had no positive findings except for a raised BP of around 140/100 mm of Hg and muscle tenderness. His initial investigations showed a serum creatinine of 3.6mg% and blood urea of 70mg% which raised to a value of 9mg% and 194mg% respectively
Studies Showing The Benifits Of Exercise mcardles disease Pop Helps Exercise This very rare disease that affected 1 inevery 100000 people shows up as a severe difficulty in handling the early http://www.personalpowertraining.net/artexercise_benifits_studies.htm
Extractions: Personal Trainer, Personal Training Arizona, Phoenix, Scottsdale Scott White. Hire a Certified personal Trainer a Sign up for Fitness Facts, get personal training secrets Name: Email: Private Personal Trainer Training Studio Call Now 480-628-1607 Personal Training in Arizona, Phoenix, Scottsdale, Paradise Valley Home AZ Trainers Scott White P ... Male Bodybuilder Exercise Benefits and Studies Alzheimer's Risk Reduced by Exercise; Affects Gene Expression and Growth Hormone: Regular exercise controls the expression of genes in an area of the brain important for memory and maintaining healthy cells in the brain; this maintenance breaks down in cases of Alzheimer's. There is a connection between the genes that control growth hormones and other important molecules and the genes' ability to be stimulated by exercise. After three weeks of running on their cage wheels, rats had changed the expression, or activity, of genes in an area of the brain called the hippocampus, a structure usually associated with higher cognitive functions like memory, thinking and learning. 6/02 Trends in Neurosciences . UC Irvine Carl Cotman. Genes affected include that for BDNF, short for brain-derived neurotrophic factor, which helps amplify nerve signals important in maintaining a healthy nervous system; IGF-1, part of the immune system that helps in the growth of new nerve cells and aids in protection of cells from injury; running increases the growth factor levels in rat brains and improves the rats' learning ability in mazes.
Paediatrics Child Health A Functional 12 Minute Walking Assessment for mcardles disease using Ratings ofPerceived Pain and Heart Rate , 5th International Congress of the World http://www.res.bham.ac.uk/publications/researchpubs/2000 data/PAEDIATI.HTM
Extractions: Paediatrics and Child Health The central theme of research in the department is to address questions of fundamental clinical importance to child health, in collaboration with relevant basic scientists, but without losing the uniqueflavour of paediatrics. Several new, each consistent with this theme have recently broadened the portfolio of research within the department. Clinical Chemistry Major areas of research continue to be in neonatalscreeningand inherited metabolic disorders. Major projects are: * Investigation of methods to screen for live dysfunction in neonates using dried blood spots * Genotype/phenotype relationships in tyrosinaemia type 1 * Biochemicaleffects and audit of sodium valproate therapy * Pharmacokinetics of sodium benzoate and sodium phenylbutyrate * Metabolic causes of sudden unexplained death in infancy * Adrenoleucodystrophy - natural history and outcome of treatment with Lorenzo's oil * Application of tandem mass spectrometry to routine diagnostic methods * Liver transplantation for organic acid disorders - biochemical assessment Division of Medical and Molecular Genetics The medical and molecular genetics research group has expanded greatly in the last 4 years. Major research interests are cancer genetics, developmental genetics and paediatric molecular medicine. Current grants held by the group total over 3 million and recent awards include a CRC programme Grant and Wellcome Trust funding to establish a National Autozygosity Mapping Resource (NAMR) (jointly with Trembath Leicester) and Mueller and Woods (Leeds). Research grants from MRC (cooperative, PhD studentship, research fellow and project grants), Cancer Research Campaign, Wellcome Trust, British Heart Foundation and others fund 35 research fellows, research nurses and PhD students. Human genetics research was a major component of the successful Joint Infrastructure Fund bid for 19 million from the Wellcome Trust to build an Institute of Biomedical Research and the researchers from the section will be based in the IBR when it opens in 2002.
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 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. OBJETIVOS. (1) Identificar el defecto molecular en una serie de 21 familias con individuos afectos de enfermedad de McArdle. (2) Establecer la patogenicidad de esas mutaciones y estudiar la prevalencia de R49X así como de otras mutaciones. (3) Describir los hallazgos clínicos de los afectos. (4) Establecer si existe una correlación genotipo-fenotipo.
Extractions: See attached files Author name Gámez Carbonell, Josep Email address 12784jgc@comb.es URN TDX-1021103-174532 Title Contribución a la caracterización clínica y genética de la enfermedad de McArdle Organization UAB Department 417 - DEPARTAMENT DE MEDICINA Knowledge area Ciències de la Salut Subjects 61 - Medicina B-4.618-2003 / 84-688-1038-X Advisors Andreu, Antoni L.. Director de la Tesi Cervera, Carlos. Director de la Tesi Keywords Genetic Mcardles disease Myophosphorylease Date of defense Abstract 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.
Stofwisselingsziekten.nl : Plaats Reactie is gediagnosticeerd. Ook wel mcardles disease genoemd. Ik probeer isgediagnosticeerd. Ook wel mcardles disease genoemd. Ik probeer http://www.vks-sos.nl/phpBB2/posting.php?mode=quote&p=843
Stofwisselingsziekten.nl : Chrisgbroekema@hotmail.com Ook wel mcardles disease genoemd. Ik probeer al een tijdje een serieuse discussieop gang te krijgen op de VSN site maar tot op heden met weinig succes. http://www.vks-sos.nl/phpBB2/viewtopic.php?p=1946
Extractions: Patients with most muscle glycolytic defects (particularly muscle phosphorylase, PFK, phosphoglycerate kinase, phosphoglycerate mutase, and lactate dehydrogenase deficiency), experience dynamic symptoms of exercise intolerance in which symptoms of fatigue, cramps, and pain are related specifically to the increased energy demands of exercise.
Motorhome She suffers from mcardles disease. Fortunately, she is able to walk short distancesand therefore doesnt need it all the time. http://www.touringandtenting.com/news_articles/motorhome1.html
Extractions: This is an account of Stuart and Julie Churchills venture into buying and traveling in a motorhome. I read some magazines - MMM, Practical Motorhome, Motorhome Monthly etc.and I soon believed I knew all there was to know about motorhoming (how complicated could it be?) and exactly what type of vehicle I wanted. This proved not to be the case, and soon many problems were to arise, but also many good times were had. Our story starts with our (Julie swears it was my) decision to buy an A-class motorhome. We (I) was certain that the space it afforded was the best for us. Much of the logic behind this is due to the fact that Julie is disabled and uses a wheelchair. She suffers from McArdles disease. Fortunately, she is able to walk short distances and therefore doesnt need it all the time.
MedicalPost.com Creatine May Boost Muscular Dystrophy Patients The creatine was welltolerated by all subjects except for one of three patientswith mcardles disease who reported an increase in muscle cramping. http://www.medicalpost.com/mpcontent/article.jsp?content=/content/EXTRACT/RAWART
Infopraxis.com Hutchins (UK); A Case of mcardles disease (Glycogen Storage Disease,Type V) Lacomis Giuliani - U of Pittsburgh (US); About http://www.infopraxis.com/bibliografia/especialidades/nutricion.htm
Index - Mayan Language To MDiv McAllen mcardles disease McBurneys point McCarthy McCarthyism McCartney McCauley McCormick McCullers mcg http://www.english-dictionary.us/index/page/M37.asp
CSAHS - CSLS - Handbook MANNOSIDOSIS ALPHA, MAPLE SYRUP DISEASE, MARFAN SYNDROME, MASTOCYTOSIS,mcardles disease Search for all tests associated with a particular disease. http://www.cs.nsw.gov.au/csls/handbook/default.asp
Extractions: Alphabetical Test Search: A B C D ... Z Search by DISEASE: ... Choose a Disease from the list ... ABETALIPOPROTEINAEMIA ABSCESS ABSCESS BREAST ABSCESS LIVER ACARIASIS ACHONDROPLASIA ACID MALTASE DEFICIENCY ACROMEGALY ACTINOMYCOSIS ACTIVATED PROTEIN C RESISTANCE ADDISONS DISEASE ADDISONS DISEASE AUTOIMMUNE ADENOSINE DEAMINASE DEFICIENCY ADENYLATE DEAMINASE DEFICIENCY ADENYLATE KINASE DEFICIENCY ADENYLOSUCCINASE DEFICIENCY ADENYLSUCCINATE LYASE DEFICIENCY ADRENAL DISEASE AUTOIMMUNE ADRENOCORTICAL HYPERFUNCTION ADRENOCORTICAL INSUFFICIENCY ADRENOLEUCODYSTROPHY AGAMMAGLOBULINAEMIA ALCOHOL ABUSE ALLERGY ALLERGY DUST MITE ALPHA-1-ANTITRYPSIN DEFICIENCY ALVEOLAR RHABDOMYOSARCOMA ALZHEIMERS DISEASE AMINOACIDURIAS AMOEBIASIS AMYLOIDOSIS AMYLOIDOSIS RENAL FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS (ALS) ANAEMIA ANAEMIA HAEMOLYTIC ANAEMIA HEREDITARY ANAEMIA HYPOCHROMIC ANAEMIA IRON DEFICIENCY ANAEMIA MEGALOBLASTIC ANAEMIA OBSCURE ANAEMIA OF CHRONIC DISEASE ANAEMIA PERNICIOUS ANAEMIA SICKLE CELL ANAEMIA SIDEROBLASTIC ANAPHYLAXIS ANGELMAN SYNDROME ANGIODYSPLASIA ANAEMIA ANGIOEDEMA ACQUIRED ANGIOEDEMA HEREDITARY ANGIOSTRONGYLIASIS ANGULAR STOMATITIS ANHYDROTIC ECTODERMAL DYSPLASIA ANKYLOSING SPONDYLITIS ANOREXIA NERVOSA ANTI CHOLINESTERASE EXPOSURE ANTI THROMBIN III DEFICIENCY ANTICARDIOLIPIN SYNDROME ANTIPHOSPHOLIPID SYNDROME AORTIC ANEURYSMS FAMILIAL APERT SYNDROME APLASIAS APLASTIC ANAEMIA APNOEA ASSOCIATED WITH ANAESTHETIC
