From exercise intolerance to functional improvement: The second wind phenomenon in the identification of McArdle disease;De intolerância ao exercício à melhora funcional: O fenômeno second wind na identificação da doença de McArdle

Arquivos de Neuro-Psiquiatria

Volumn 72, Issue 7, 2014, Pages 538-541

  Scalco, Renata Siciliani ^a,b,c,f   Chatfield, Sherryl ^a,f   Godfrey, Richard ^a,d,f   Pattni, Jatin ^a,f   Ellerton, Charlotte ^a,f   Beggs, Andrea ^a,f   Brady, Stefen ^a,f   Wakelin, Andrew ^e,f   Holton, Janice L ^a,f   Quinlivan, Ros ^a,f  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MINISTRY OF EDUCATION OF BRAZIL   (Brazil)

^c PONTIFICAL CATHOLIC UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^d BRUNEL UNIVERSITY   (United Kingdom)

^e Association for Glycogen Storage Disease   (United Kingdom)

^f GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

12 minute walk test; Exercise test; Glycogen storage disease type V; McArdle disease; Second wind phenomenon

Indexed keywords

MYOGLOBIN;

ADULT; ARTICLE; CASE REPORT; CREATINE KINASE BLOOD LEVEL; EXERCISE; EXERCISE TEST; EXPERIMENTAL LOCOMOTOR ACTIVITY TEST; GENE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 5; GOUT; HUMAN; MALE; MIDDLE AGED; MUSCLE BIOPSY; MUSCLE CHANNELOPATHY; MUSCLE CRAMP; MUSCLE DISEASE; MUSCULAR DYSTROPHY; MYALGIA; MYOGLOBINURIA; NEUROMUSCULAR MONITORING; PHYSICAL ACTIVITY; PYGM GENE; RHABDOMYOLYSIS; SECOND WIND PHENOMENON; URINALYSIS; BIOPSY; DIAGNOSTIC ERROR; HEART RATE; PATHOLOGY; PATHOPHYSIOLOGY; PHYSIOLOGY; PROCEDURES; TIME; WALKING;

BIOPSY; DIAGNOSTIC ERRORS; EXERCISE TEST; GLYCOGEN STORAGE DISEASE TYPE V; HEART RATE; HUMANS; MALE; MIDDLE AGED; TIME FACTORS; WALKING;

EID: 84904553729     PISSN: 0004282X     EISSN: 16784227     Source Type: Journal    
DOI: 10.1590/0004-282X20140062     Document Type: Article

References (14)

1. Andreu AL, Nogales-Gadea G, Cassandrini D, Arenas J, Bruno C. McArdle disease: molecular genetic update. Acta Myol 2007;26:53-57.
2. Vieitez I, Teijeira S, Fernandez JM, et al. Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations. Neuromuscul Disord 2011;21:817-823.
3. Haller RG. Treatment of McArdle disease. Arch Neurol 2000;57:923-924
4. Lucia A, Ruiz JR, Santalla A, et al. Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. J Neurol Neurosurg Psychiatry 2012;83:322-328.
5. Gurgel-Giannetti J, Nogales-Gadea G, van der Linden H Jr, et al. Clinical and molecular characterization of McArdle's disease in Brazilian patients. Neuromolecular Med 2013;15:470-475.
6. Quinlivan R, Buckley J, James M, et al. McArdle disease: a clinical review. J Neurol Neurosurg Psychiatry 2010;81:1182-1188.
7. Miteff F, Potter HC, Allen J, Teoh H, Roxburgh R, Hutchinson DO. Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease). J Clin Neurosci 2011;18:1055-1058.
8. Lucia A, Nogales-Gadea G, Pérez M, Martín MA, Andreu AL, Arenas J. McArdle disease: what do neurologists need to know? Nat Clin Pract Neurol 2008;4:568-577.
9. Nadaj-Pakleza AA, Vincitorio CM, Laforêt P, et al. Permanent muscle weakness in McArdle disease. Muscle Nerve 2009;40:350-357.
10. Pernow BB, Havel RJ, Jennings DB. The second wind phenomenon in McArdle's syndrome. Acta Med Scand 1967;472(Suppl):S294-S307.
11. Pearson C, Rimer D, Mommaerts WFHM. A metabolic myopathy due to absence of muscle phosphorylase. Am J Med 1961;30:502-517.
12. Braakhekke JP, deBruin MI, Stegeman DF, Wevers RA, Binkhorst RA, Joosten EMG. The second wind phenomenon in McArdle's disease. Brain1986;109:1087-1101.
13. Vissing J, Haller RG. A diagnostic cycle test for McArdle's disease. Ann Neurol 2003;54:539-542.
14. Borg G. Perceived exertion as an indicator of somatic stress. Scand J Rehabil Med 1970;2:92-98.