McArdle's disease presenting as unexplained dyspnea in a young woman

Canadian Respiratory Journal

Volumn 11, Issue 2, 2004, Pages 163-167

  Voduc, Nha ^a   Webb, Katherine A ^a   D'Arsigny, Christine ^a   McBride, Ian ^a   O'Donnell, Denis E ^a,b  

^a QUEEN S UNIVERSITY   (Canada)

^b NONE   (Canada)

Author keywords

Dyspnea; Exercise; McArdle's disease; Respiratory muscle weakness

Indexed keywords

GLYCOGEN; GLYCOGEN PHOSPHORYLASE; PYRIDOXINE;

ADULT; ANAEROBIC THRESHOLD; ARTICLE; BREATHING MUSCLE; CASE REPORT; CLINICAL FEATURE; DIET SUPPLEMENTATION; DYSPNEA; ESOPHAGUS PRESSURE; EXERCISE; EXERCISE TOLERANCE; FEMALE; GENETIC COUNSELING; GLYCOGEN STORAGE DISEASE TYPE 5; HEART RATE; HUMAN; ISCHEMIA; KIDNEY DYSFUNCTION; LEG CRAMP; LEG PAIN; LUNG FUNCTION TEST; LUNG GAS EXCHANGE; LUNG MECHANICS; MUSCLE BIOPSY; MUSCLE FATIGUE; MUSCLE WEAKNESS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN DIET; RESPIRATORY FUNCTION; RHABDOMYOLYSIS; TREADMILL EXERCISE;

EID: 1942475108     PISSN: 11982241     EISSN: None     Source Type: Journal    
DOI: 10.1155/2004/934024     Document Type: Article

References (19)

1. McArdle B. Myopathy due to a defect in muscle glycogen breakdown. Clin Sci Lond 1951;10:13-33.
2. Schmid R, Mahler D. Chronic progressive myopathy with myoglobinuria: Demonstration of a glycolytic defect in muscle. J Clin Invest 1959;38:2044-58.
3. Hamilton AL, Killian KJ, Summers E, Jones NL. Muscle strength, symptom intensity, and exercise capacity in patients with cardiorespiratory disorders. Am J Respir Crit Care Med 1995;152:2021-31.
4. Black LF, Hyatt RE. Maximal respiratory pressures: Normal values, and relationship to age and sex. Am Rev Respir Dis 1969;99:696-702.
5. Borg GAV. Psychophysical basis of perceived exertion. Med Sci Sports Exerc 1982;14:377-81.
6. American Thoracic Society/European Respiratory Society. ATS/ERS Statement on respiratory muscle testing. Am J Respir Crit Care Med 2002;166:518-624.
7. Chen Z, Eldridge FL, Wagner PG. Respiratory-associated rhythmic firing of mid-brain neurons in cats: Relation to level of respiratory drive. J Physiol (Lond) 1991;437:305-25.
8. Chen Z, Eldridge FL, Wagner PG. Respiratory-associated thalamic activity is related to level of respiratory drive. Respir Physiol 1992;90:99-113.
9. Leblanc P, Bowie DM, Summers E, Jones NL, Killian KJ. Breathlessness and exercise in patients with cardio-respiratory disease. Am Rev Respir Dis 1986;133:21-5.
10. Gandevia SC. The perception of motor commands on effort during muscular paralysis. Brain 1982;105:151-95.
11. Porte D, Crawford DW, Jennings DB, Aber C, McIlroy MB. Cardiovascular and metabolic responses to exercise in a patient with McArdle's syndrome. N Engl J Med 1966;275:406-12.
12. Victor RG, Bertocci LA, Pryor SL, Nunnally RL. Sympathetic nerve discharge is coupled to muscle cell pH during exercise in humans. J Clin Invest 1988;82:1301-5.
13. Haouzi P, Hill JM, Lewis BK, Kaufman MP Responses of group III and IV muscle afferents to distension of the peripheral vascular bed. J Appl Physiol 1999;87:545-53.
14. Waldrop TG, Eldridge FL, Iwamoto GA, Mitchell JH. Central neural control of respiration and circulation during exercise. In: Rowell LB, Shepherd JT, eds. Handbook of Physiology, Section 12. Exercise: Regulation and Integration of Multiple Systems. New York: Oxford University Press for the American Physiological Society, 1996:333-80.
15. Querry RG, Smith SA, Stromstad M, Ide K, Raven PB, Secher NH. Neural blockade during exercise augments central command's contribution to carotid baroreflex resetting. Am J Physiol Heart Circ Physiol 2001;280:H1635-44.
16. Vissing J, Vissing SF, MacLean DA, Saltin B, Quistorff B, Haller RG. Sympathetic activation in exercise is no dependent on muscle acidosis: Direct evidence from studies in metabolic myopathies. J Clin Invest 1998;101:1654-60.
17. Phoenix J, Hopkins P, Bartram C, Beynon RJ, Quinlivan RCM, Edwards RHT. Effect of vitamin B6 supplementation in McArdle's disease: A strategic case study. Neuromuscul Disord 1998;8:210-2.
18. Slonim AE, Goans PJ. Myopathy in McArdle's syndrome: Improvement with a high-protein diet. N Engl J Med 1985;312:355-9.
19. Dimauro S, Bresolin N. Phosphorylase deficiency. In: Engel A, Banker B, eds. Myology. New York: McGraw-Hill, 1986:1585.