scholarly journals McArdle's disease in a Turkish woman due to an intronic variant of PYGM gene

2019 ◽  
pp. 103-108
Author(s):  
Gülden Diniz ◽  
Canan Çelik ◽  
Oğuz Dikbaş ◽  
Aslıhan Duman ◽  
Ayşe Feyda Nursal
Keyword(s):  
Turkish Woman ◽  
Mcardle's Disease ◽  
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