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         Mcardles Disease:     more detail
  1. McArdle disease presenting as acute renal failure.(Disease/Disorder overview): An article from: Southern Medical Journal by Jayasree Pillarisetti, Awad Ahmed, 2007-03-01
  2. The Migraine Brain: Your Breakthrough Guide to Fewer Headaches, Better Health by Carolyn Bernstein, Elaine McArdle, 2010-04-30

1. McArdle's Disease Resources
Information, resources, and contacts for those affected by this disease or any of the glycogen storage diseases.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

2. McArdles Disease
mcardles disease. Focus On Low Incidence Disorders. Phosphorylase deficiency (alsoknown as McArdle s disease or PYGM) is considered a metabolic disorder of
http://www.muscle.ca/content/index.php?id=1415

3. McArdle's Disease (www.whonamedit.com)
McArdle's disease A syndrome characterised by muscular pain, fatigability, and muscle cramping following exercise, caused by an abnormal
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. Connections: Volume 17.2
mcardles disease Phosphorylase deficiency (also known as McArdle s disease orPYGM) is considered a metabolic disorder of the skeletal muscles.
http://www.muscle.ca/content/index.php?id=1409

5. Case 130 Neuropathology Case
Case 130 Chronic Myalgias After Exercise
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Mcardles Disease 20 Year Old F Help - BrainTalk Communities
Hello everyone I am new to this board but would like for anyone who can help todo so.I am 20 years old and I have mcardles disease it is a glycogen storge
http://neuro-mancer.mgh.harvard.edu/ubb/Forum216/HTML/000002.html

7. Split The Difference
Comparison of McArdles' Disease and CPT deficiency
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. BrainTalk Communities - Neurology Support Groups
demylinazation, sharris, 1, 0207-2001 1007 PM. Tests, Suzanna M, 1, 02-06-20010602 PM. Can anyone help mcardles disease, tinyteena, 8, 01-22-2001 1024 PM.
http://neuro-mancer.mgh.harvard.edu/cgi-bin/forumdisplay.cgi?action=topics&numbe

9. Treatment Of McArdle Disease MDA Research
Treatment of McArdle Disease (Phosphorylase Deficiency MPD or PYGM) Ronald G. Haller, MD Archives of Neurology Vol. 57 No.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

10. McArdles_Disease.PDF
Amy Arreola Jennifer Choe Merfet Shehadeh Akilah McArdle.s Disease Chromosome 11 enzyme glycogen phosphorylase (GP) Once upon a time, there was an
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

11. Curt Rogers
I have mcardles disease . Basically mcardles disease is a muscle disease Basically, what mcardles disease is that I am missing an enzyme that everyone
http://www.withoutwheels.org/Profiles/crogers/
Curt Rogers Disability: McArdles Disease My name is Curt "Curtis M .Rogers" ,but just Curt does fine. My online name is Gambit. As Paul does, I also play Golf Online and that is how I came across his site here "Without Wheels", and decided to write him and tell him my story. I have "McArdles Disease". Basically McArdles disease is a muscle disease that affects the skeletal muscles, which in turn if over stressed can affect the kidneys. In extreme cases as mine, they can completely shut down the kidneys. Well, I remember the days in elementary school, as far back has kindergarten. My School was about a mile and a half walk from home. Well, that walk would take me almost an hour to do. All through elementary school, I could not walk more then 50 yards without having to stop and sit down and rest. My legs would get this burning in them and they would feel like they weighed more then ten times then they actually were. The muscles wouldn't just move them anymore until I sat and rested. Running was out of the question. I remember them days in elementary school when we had them 40 yard dash's and stuff "Field Day" I think they called it. Well I would get up to them lines to run them dash's just knowing I could beat everyone and I did....for about 10 steps. I would push so hard that my muscles would completely lock up on me, but I would keep pushing "Something that I did not know could really hurt me then" until I made it to that finish line "Last every time I might add". Even the girls would beat me and I'm only talking about a lousy 40 yards. Needless to say, I would collapse just about when I crossed the line. Somehow I would manage to keep my feet under me and try to recover quickly. I hid it very well because it was embarrassing, at least to a 6 to 11 year old it was.

12. Mcardles Disease 20 Year Old F Help - BrainTalk Communities -
Specific Neurological Conditions (A L) all categories Glycogen Storage Disorders mcardles disease 20 year old f help profile
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

13. AGSD - UK Site - 2002 Workshop Report
Glycogen Storage Disease Type V (mcardles disease) A Talk by Dr. Ros Quinlivan You cannot gain information on mcardles disease unless you are working
http://www.agsd.org.uk/home/wrf.asp?F=Nottingham_2002_Workshop_Report.shtm

14. IngentaConnect McArdles Disease Diagnosed Following Statin-induced
McArdle's disease diagnosed following statininduced myositis Authors Callum Livingstone1; Said Al Riyami1; Peter Wilkins2;
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. IngentaConnect Oxygen Consumption Is Increased R N Patients With
Oxygen consumption is increased relative to work rate in patients with McArdle's disease Authors C. S. O'Dochartaigh1; H. Y. Ong1;
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

16. Time To Train All Doctors To Look After Seriously Ill Patients
A feature of mcardles disease is that subjects suffer muscle cramp and However, in mcardles disease, lactate production does not increase and,
http://www.smj.org.uk/0403/mcardle.htm
Exercise to exhaustion in the second-wind phase of exercise in a case of McArdle’s disease with and without creatine supplementation
SMJ Denis St.J O’Reilly , Roger Carter Ewan Bell John Hinnie Peter J Galloway Department of Clinical Biochemistry, Royal Infirmary, Glasgow G4 0SF Department of Respiratory Medicine, Royal Infirmary, Glasgow G4 0SF Department of Medicine, Royal Alexandra Hospital, Paisley PA2 9PN Department of Clinical Biochemistry, Royal Hospital for Sick Children, Yorkhill, Glasgow G3 8SJ Key Words: Anaerobic Threshold, Exhaustion, McArdle’s Disease, Creatine Correspondence to: Dr Denis St.J O’Reilly Department of Clinical Biochemistry Glasgow Royal Infirmary GLASGOW
SUMMARY The cardio-pulmonary and biochemical changes observed in a case of McArdle’s disease, exercising with increasing work rates to exhaustion in the “second-wind” phase of exercise are reported for the first time. A work rate of 275-325 watts was achieved. Venous blood lactate remained unchanged throughout. The plasma ammonium level reached a plateau of approximately 400 m mol/l at 100 watts.

17. McArdles Disease - Descipher Health
mcardles disease
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

18. Decreased Insulin Action In Skeletal Muscle From Patients With McArdles Disease
In this study, six patients with mcardles disease and 6 matched control subjectswere subjected to an oral glucose tolerance test and a euglycemic
http://ajpendo.physiology.org/cgi/content/short/00526.2001v1
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Am J Physiol Endocrinol Metab (February 19, 2002). doi:10.1152/ajpendo.00526.2001
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Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed Articles by Nielsen, J. N Articles by Richter, E. A Articles in PresS, published online ahead of print February 19, 2002
Am J Physiol Endocrinol Metab, 10.1152/ajpendo.00526.2001
Submitted on November 26, 2001
Accepted on February 14, 2002
Decreased insulin action in skeletal muscle from patients with McArdles disease
Jakob N Nielsen John Vissing Jorgen F Wojtaszewski Ronald G Haller Najma Begum and Erik A Richter Department of Human Physiology, Copenhagen Muscle Research Centre, Institute of Exercise and Sport Sciences, Copenhagen, Denmark
Department of Neurology, Copenhagen Muscle Research Centre, Rigshospitalet, Copenhagen, Denmark

19. Research Studentship On The Cell And Molecular Biology Of McArd
mcardles disease is an inherited metabolic disorder of skeletal muscle.Patients affected with the condition are unable to produce the muscle isoform of the
http://www.rjah.nhs.uk/cind/morrisge/studentship.htm
Research Studentships on the Cell and Molecular Biology of McArdles Disease or Spinal Muscular Atrophy.
THE STUDENT

st
THE PLACE.
The Centre for Inherited Neuromuscular Disease is located in the Oswestry Orthopaedic Hospital which has a longstanding reputation for research aimed at novel treatments for mobility disorders. The modern, well-equipped laboratories are in a rural Shropshire setting, with views over the Welsh hills and surrounding countryside, but are close to a major arterial route (A5) and a mainline station (London, 3h; Liverpool/Manchester 2h).
THE RESEARCH GROUP
The supervisory team for the McArdles project will include Dr. Ros Quinlivan, who runs the only McArdles clinic in the UK at Oswestry, and Prof Caroline Sewry, the muscle histopathologist. The SMA project is funded by a USA Charity and is carried out in collaboration with Ohio State University.
THE PROJECT.
1) McArdles Disease

McArdles Disease is an inherited metabolic disorder of skeletal muscle. Patients affected with the condition are unable to produce the muscle isoform of the enzyme phosphorylase. Affected individuals suffer with severe pain and fatigue induced by strenuous exercise such as running, walking uphill, carrying heavy loads etc. Failure to rest during pain results in the muscle seizing completely; this is known as a contracture, which in turn leads to muscle damage (rhabdomyolysis) and in severe cases, acute renal failure due to myoglobinuria. Over 80% of British patients have one particular mutation in exon 1 of the phosphorylase gene known as R49X, which introduces an early Stop codon and prevents production of the full-length phosphorylase protein. Heterozygotes are asymptomatic, indicating that even partial replacement of the missing protein will be therapeutic.

20. Page 17
Neuromuscular Disorders, Dystrophic Cardiomyopathy, mcardles disease, mcardles disease Hereditary and congenital peripheral neuropathy,
http://www.rjah.nhs.uk/Consultants_Services/consultants__services17.htm
QUINLIVAN Dr Rosaline BSc. (Hons), MB, BS, DCH, MRCP, FRCP
Consultant Paediatrician with an Interest in Paediatric Neurology Secretary: Outpatient Clinics:
Clinical Interests:
Publications In the Following Topics:
Qualification:
Consultant Appointments: Sarah Evans 01691 404376 Friday all day Neuromuscular Disorders, Dystrophic Cardiomyopathy, McArdles Disease, General Paediatrics and Paediatric Neurology
General Paediatrics
Muscular Dyshophy and Congenital Neuropathies
PET Scanning in Paediatric Cardiology
Peripheral Neuropathies Congenital and Acquired
McArdles disease Hereditary and congenital peripheral neuropathy, muscular dystrophy and dystrophic cardiomyopathy. Invited reviews on Becker cardiomyopathy and cardiac PET scanning in Paediatrics 1985 UCH, London 1995 Oswestry and Shrewsbury RAY Dr Sumeeta FRCA Consultant Anaesthetist Secretary: Clinical Interests: Publications: Qualification: Consultant Appointments: Mandie Owen 01691 404246 Cardio-pulmonary Resuscitation Management of Difficult Airways 1991 London 1995 Oswestry REDFORD Mr David MB FRCS FRCOG Consultant Gynaecologist Obstetrician Secretary: Outpatient Clinics: Clinical Interests: Publications: Qualification: Consultant Appointments: Jeanne McKay 01691 404302 Alternate Tuesday am Endoscopic vaginal surgery, medical complications of pregnancy

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