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Research paper
Redefining the clinical phenotypes of non-dystrophic myotonic syndromes
  1. J Trip1,2,
  2. G Drost2,
  3. H B Ginjaar3,
  4. F H M Nieman4,
  5. A J van der Kooi5,
  6. M de Visser5,
  7. B G M van Engelen2,
  8. C G Faber1
  1. 1
    Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands
  2. 2
    Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Nijmegen, Medical Centre, Nijmegen, The Netherlands
  3. 3
    Department of Human and Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands
  4. 4
    Department of Clinical Epidemiology and Medical Technology Assessment, Maastricht University Medical Centre, Maastricht, The Netherlands
  5. 5
    Department of Neurology, Academic Medical Centre University of Amsterdam, Amsterdam, The Netherlands
  1. Dr J Trip, Maastricht University Medical Centre, Department of Neurology, PO Box 5800, 6202 AZ Maastricht, The Netherlands; jeroen.trip{at}online.nl

Abstract

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.

https://doi.org/10.1136/jnnp.2008.162396

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    Footnotes

    • Funding: The work reported was supported by a research grant (Mar04-0118) from the “Prinses Beatrix Fonds,” The Hague, The Netherlands.

    • Competing interests: None.

    • Ethics approval: Ethics approval was provided by the medical ethics committee of the Radboud University Nijmegen Medical Centre.

    • Patient consent: Obtained.