Refined exercise testing can aid dna-based diagnosis in muscle channelopathies

Annals of Neurology

Volumn 69, Issue 2, 2011, Pages 328-340

  Tan, S Veronica ^a,b   Matthews, Emma ^a   Barber, Melissa ^b   Burge, James A ^a   Rajakulendran, Sanjeev ^a   Fialho, Doreen ^a   Sud, Richa ^a   Haworth, Andrea ^a   Koltzenburg, Martin ^a   Hanna, Michael G ^a  

^a NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^b GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; AMPLITUDE MODULATION; ANDERSEN SYNDROME; ARTICLE; CONTROLLED STUDY; COOLING; DIAGNOSTIC ACCURACY; DIAGNOSTIC PROCEDURE; DIAGNOSTIC TEST ACCURACY STUDY; DNA BASED DIAGNOSIS; ELECTROMYOGRAPHY; ETHNIC DIFFERENCE; EXERCISE TEST; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HUMAN; HYPOKALEMIC PERIODIC PARALYSIS; MAJOR CLINICAL STUDY; MALE; MUSCLE ACTION POTENTIAL; MUSCLE CHANNELOPATHY; PERIODIC PARALYSIS; PREDICTION; PRIORITY JOURNAL; ROOM TEMPERATURE; SENSITIVITY AND SPECIFICITY; SODIUM CHANNEL MYOTONIA; THOMSEN DISEASE; WARMING;

ADOLESCENT; ADULT; AGED; CHANNELOPATHIES; ELECTROMYOGRAPHY; EXERCISE TEST; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MYOTONIC DISORDERS;

EID: 79952514078     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22238     Document Type: Article

References (18)

1. Fournier E, Arzel M, Sternberg D, et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 2004; 56: 650-661. (Pubitemid 39540745)
2. Fournier E, Viala K, Gervais H, et al. Cold extends electromyography distinction between ion channel mutations causing myotonia. Ann Neurol 2006; 60: 356-365. (Pubitemid 44520238)
3. Kuntzer T, Flocard F, Vial C, et al. Exercise test in muscle channelopathies and other muscle disorders. Muscle Nerve 2000; 23: 1089-1094. (Pubitemid 30437119)
4. Michel P, Sternberg D, Jeannet PY, et al. Comparative efficacy of repetitive nerve stimulation, exercise, and cold in differentiating myotonic disorders. Muscle Nerve 2007; 36: 643-650. (Pubitemid 47623852)
5. McManis PG, Lambert EH, Daube JR., The exercise test in periodic paralysis. Muscle Nerve 1986; 9: 704-710. (Pubitemid 16020212)
6. Tengan CH, Antunes AC, Gabbai AA, et al. The exercise test as a monitor of disease status in hypokalaemic periodic paralysis. J Neurol Neurosurg Psychiatry 2004; 75: 497-499. (Pubitemid 38338789)
7. Arimura Y, Arimura K, Suwazono S, et al. Predictive value of the prolonged exercise test in hypokalemic paralytic attack. Muscle Nerve 1995; 18: 472-474.
8. Arimura K, Arimura Y, Ng AR, et al. Muscle membrane excitability after exercise in thyrotoxic periodic paralysis and thyrotoxicosis without periodic paralysis. Muscle Nerve 2007; 36: 784-788. (Pubitemid 350246926)
9. Katz JS, Wolfe GI, Iannaccone S, et al. The exercise test in Andersen syndrome. Arch Neurol 1999; 56: 352-356. (Pubitemid 29120234)
10. Feng Y, Zhang Y, Liu ZL, et al. Exercise test on the patients with normokalaemic periodic paralysis from a Chinese family with a mutation in the SCN4A gene. Chin Med J (Engl) 2008; 121: 1915-1919.
11. Streib EW., AAEE minimonograph #27: differential diagnosis of myotonic syndromes. Muscle Nerve 1987; 10: 603-615. (Pubitemid 17130871)
12. Streib EW., Evoked response testing in myotonic syndromes. Muscle Nerve 1984; 7: 590-592.
13. Streib EW, Sun SF, Yarkowsky T,. Transient paresis in myotonia syndromes: a simplified electrophysiologic approach. Muscle Nerve 1982; 5: 719-723. (Pubitemid 13194606)
14. Streib EW, Sun SF, Hanson M., Paramyotonia congenita: clinical and electrophysiologic studies. Electromyogr Clin Neurophysiol 1983; 23: 315-325. (Pubitemid 13065612)
15. Dupre N, Chrestian N, Bouchard JP, et al. Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. Neuromuscul Disord 2009; 19: 330-334.
16. Miller TM, Dias da Silva MR, Miller HA, et al. Correlating phenotype and genotype in the periodic paralyses. Neurology 2004; 63: 1647-1655. (Pubitemid 39507583)
17. Corbett VA, Nuttall FQ., Familial hypokalemic periodic paralysis in blacks. Ann Intern Med 1975; 83: 63-65.
18. Kilpatrick RE, Seiler-Smith S, Levine SN,. Thyrotoxic hypokalemic periodic paralysis: report of four cases in black American males. Thyroid 1994; 4: 441-445.