Redefining the clinical phenotypes of non-dystrophic myotonic syndromes.
| Autor: | Trip J; Maastricht University Medical Centre, Department of Neurology, PO Box 5800, 6202 AZ Maastricht, The Netherlands. jeroen.trip@online.nl, Drost G, Ginjaar HB, Nieman FH, van der Kooi AJ, de Visser M, van Engelen BG, Faber CG |
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| Jazyk: | angličtina |
| Zdroj: | Journal of neurology, neurosurgery, and psychiatry [J Neurol Neurosurg Psychiatry] 2009 Jun; Vol. 80 (6), pp. 647-52. Date of Electronic Publication: 2009 Feb 11. |
| DOI: | 10.1136/jnnp.2008.162396 |
| Abstrakt: | Objective: To redefine phenotypical characteristics for both chloride (ClCh) and sodium channelopathies (NaCh) in non-dystrophic myotonic syndromes (NDM). Methods: In a cross-sectional, nationwide study, standardised interviews and clinical bedside tests were performed in 62 genetically confirmed NDM patients, 32 ClCh and 30 NaCh. Results: Standardised interviews revealed that ClCh reported a higher frequency of muscle weakness (75 vs 36.7%; p<0.01), the warm-up phenomenon (100 vs 46.7%; p<0.001), and difficulties in standing up quickly (90.6 vs 50.0%; p<0.001), running (90.6% vs 66.7; p<0.05) and climbing stairs (90.6 vs 63.3%; p = 0.01). Patients with NaCh reported an earlier onset (4.4 vs 9.6 years; p<0.001), and higher frequencies of paradoxical (50.0 vs 0%; p<0.001) and painful myotonia (56.7 vs 28.1%; p<0.05). Standardised clinical bedside tests showed a higher incidence and longer relaxation times of myotonia in the leg muscles for ClCh (100 vs 60%; mean duration of chair tests 12.5 vs 6.3 s; p<0.001), and in eyelid muscles for NaCh (96.7 vs 46.9%; mean relaxation time of 19.2 vs 4.3 s; p<0.001). Transient paresis was only observed in ClCh (62.5%) and paradoxical myotonia only in NaCh (30.0%). Multivariate logistic regression analyses allowed clinical guidelines to be proposed for genetic testing. Conclusion: This study redefined the phenotypical characteristics of NDM in both ClCh and NaCh. The clinical guidelines proposed may help clinicians working in outpatient clinics to perform a focused genetic analysis of either CLCN1 or SCN4A. |
| Databáze: | MEDLINE |
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