Ischemic exercise test: Failure to detect partial expression of Mcardle's disease

1987 ◽  
Vol 10 (6) ◽  
pp. 546-551 ◽  
Author(s):  
Robert G. Taylor ◽  
James S. Lieberman ◽  
Margaret M. Portwood
Keyword(s):  
Exercise Test ◽  
Mcardle's Disease ◽  
Mcardle’S Disease ◽  
Test Failure

Ischaemic exercise test in myoadenylate deaminase deficiency and McArdle's disease: measurement of plasma adenosine, inosine and hypoxanthine

1986 ◽  
Vol 70 (4) ◽  
pp. 399-401 ◽  
Author(s):  
S. P. T. Sinkeler ◽  
E. M. G. Joosten ◽  
R. A. Wevers ◽  
R. A. Binkhorst ◽  
F. T. Oerlemans ◽  
...  
Keyword(s):  
Exercise Test ◽  
Diagnostic Value ◽  
Myoadenylate Deaminase Deficiency ◽  
Control Subjects ◽  
Mcardle's Disease ◽  
Before And After ◽  
Myoadenylate Deaminase ◽  
Mcardle’S Disease ◽  
Forearm Exercise ◽  
Plasma Adenosine

1. Plasma adenosine, inosine and hypoxanthine concentrations were assayed in seven control subjects, five myoadenylate deaminase deficient (MADD) patients and six McArdle patients before and after ischaemic forearm exercise. 2. The plasma adenosine increase was very low in all test groups and there were no significant differences. 3. The MADD patients showed a significantly lower increase of plasma inosine and hypoxanthine after exercise as compared with the controls. 4. In the McArdle patients the increase in plasma inosine and hypoxanthine after exercise did not differ significantly from the values measured in the controls. 5. The ischaemic exercise test with measurement of plasma inosine and hypoxanthine might be of diagnostic value in MADD, but not in McArdle's disease.

Molecular Analysis of Myophosphorylase Deficiency in Dutch Patients with McArdle's Disease

2004 ◽  
Vol 68 (1) ◽  
pp. 17-22 ◽  
Author(s):  
M. A. Martin ◽  
J. C. Rubio ◽  
R. A. Wevers ◽  
B. G. M. Van Engelen ◽  
G. C. H. Steenbergen ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Mcardle's Disease ◽  
Mcardle’S Disease

McArdle's disease: two clinical expressions in the same pedigree

1990 ◽  
Vol 237 (4) ◽  
pp. 267-270 ◽  
Author(s):  
A. Papadimitriou ◽  
P. Manta ◽  
R. Divari ◽  
A. Karabetsos ◽  
E. Papadimitriou ◽  
...  
Keyword(s):  
Mcardle's Disease ◽  
Mcardle’S Disease

Increased ammonia production during forearm ischemic work test in McArdle's disease

1981 ◽  
Vol 59 (23) ◽  
pp. 1319-1320 ◽  
Author(s):  
K. W. Rumpf ◽  
H. Wagner ◽  
H. Kaiser ◽  
H. -M. Meinck ◽  
H. H. Goebel ◽  
...  
Keyword(s):  
Ammonia Production ◽  
Mcardle's Disease ◽  
Mcardle’S Disease

Muscle pain in myophosphorylase deficiency (McArdle’s disease): The role of gender, genotype, and pain-related coping

Pain ◽  
2006 ◽  
Vol 124 (3) ◽  
pp. 295-304 ◽  
Author(s):  
Oliver Rommel ◽  
Rudolf A. Kley ◽  
Gabriele Dekomien ◽  
Jörg T. Epplen ◽  
Matthias Vorgerd ◽  
...  
Keyword(s):  
Muscle Pain ◽  
Mcardle's Disease ◽  
Mcardle’S Disease

scholarly journals McArdle's Disease Presenting as Unexplained Dyspnea in a Young Woman

2004 ◽  
Vol 11 (2) ◽  
pp. 163-167 ◽  
Author(s):  
Nha Voduc ◽  
Katherine A Webb ◽  
Christine D'Arsigny ◽  
Ian McBride ◽  
Denis E O'Donnell
Keyword(s):  
Young Woman ◽  
Respiratory Muscle ◽  
Esophageal Pressure ◽  
Lung Mechanics ◽  
Exercise Intolerance ◽  
Leg Pain ◽  
Exertional Dyspnea ◽  
Mcardle's Disease ◽  
Mcardle’S Disease ◽  
Muscle Impairment

McArdle's disease is a rare, inherited deficiency of myophosphorylase, an enzyme required for the utilization of glycogen. Patients with myophosphorylase deficiency classically present with exercise intolerance, leg pain and muscle fatigue. The case of a young woman with exertional dyspnea and leg cramps is described. Exercise testing confirmed the presence of exercise intolerance and demonstrated an accelerated heart rate response, despite the absence of an anaerobic threshold and a respiratory exchange ratio of less than 1.0. Subsequent ischemic forearm testing and muscle biopsy confirmed the diagnosis of myophosphorylase deficiency. Evaluation of lung mechanics with esophageal pressure measurements demonstrated the presence of respiratory muscle weakness and early fatiguability, suggesting that the patient's dyspnea might have been attributable to an increased respiratory effort. Dyspnea is not a classic symptom associated with myophosphorylase deficiency, although subclinical respiratory muscle impairment may be present. No previous studies have evaluated respiratory muscle function during exercise in patients with myophosphorylase deficiency.

scholarly journals McArdle’s Disease

2001 ◽  
Vol 1 (2) ◽  
pp. 122-125 ◽  
Author(s):  
David Hilton-Jones
Keyword(s):  
Mcardle's Disease ◽  
Mcardle’S Disease
Sign in / Sign up

Export Citation Format

Share Document