Cold extends electromyography distinction between ion channel mutations causing myotonia.

Emmanuel Fournier; Karine Viala; Hélène Gervais; Damien Sternberg; Marianne Arzel-Hézode; Pascal Laforêt; Bruno Eymard; Nacira Tabti; Jean-Claude Willer; Christophe Vial; Bertrand Fontaine

hal-00272329, version 1

Cold extends electromyography distinction between ion channel mutations causing myotonia.

Emmanuel Fournier ¹, Karine Viala, Hélène Gervais, Damien Sternberg, Marianne Arzel-Hézode, Pascal Laforêt, Bruno Eymard ², Nacira Tabti, Jean-Claude Willer ^3, 4, Christophe Vial ^{5, 6, 7, 8, 9, 10}, Bertrand Fontaine ^11, 12, 13

Annals of Neurology 60, 3 (2006) 356-65

Abstract: OBJECTIVE: Myotonias are inherited disorders of the skeletal muscle excitability. Nondystrophic forms are caused by mutations in genes coding for the muscle chloride or sodium channel. Myotonia is either relieved or worsened by repeated exercise and can merge into flaccid weakness during exposure to cold, according to causal mutations. We designed an easy electromyography (EMG) protocol combining repeated short exercise and cold as provocative tests to discriminate groups of mutations. METHODS: Surface-recorded compound muscle action potential was used to monitor muscle electrical activity. The protocol was applied on 31 unaffected control subjects and on a large population of 54 patients with chloride or sodium channel mutations known to cause the different forms of myotonia. RESULTS: In patients, repeated short exercise test at room temperature disclosed three distinct abnormal patterns of compound muscle action potential changes (I-III), which matched the clinical symptoms. Combining repeated exercise with cold exposure clarified the EMG patterns in a way that enabled a clear correlation between the electrophysiological and genetic defects. INTERPRETATION: We hypothesize that segregation of mutations into the different EMG patterns depended on the underlying pathophysiological mechanisms. Results allow us to suggest EMG guidelines for the molecular diagnosis, which can be used in clinical practice.

1: Fédération de Neurophysiologie Clinique and Centre de Référence des Canalopathies Musculaires
Hôpital Pitié-Salpêtrière
2: Physiopathologie et thérapie du muscle strié
INSERM : U582 – IFR14 – Université Pierre et Marie Curie [UPMC] - Paris VI
3: Physiologie et physiopathologie de la motricité chez l'homme
INSERM : U731 – Université Pierre et Marie Curie [UPMC] - Paris VI – IFR70
4: Fédération des Pathologies du Sommeil
Assistance publique - Hôpitaux de Paris (AP-HP) – Hôpital Pitié-Salpêtrière
5: Laboratoire des Sciences du Génie Chimique (LSGC)
CNRS : UPR6811
6: Laboratoire de Probabilités et Modèles Aléatoires (LPMA)
CNRS : UMR7599 – Université Pierre et Marie Curie [UPMC] - Paris VI – Université Paris VII - Paris Diderot
7: Modélisation aléatoire de Paris X (MODAL'X)
Université Paris X - Paris Ouest Nanterre La Défense
8: Enzymes, membranes biologiques et biomimétiques (EMBB)
CNRS : UMR5013 – Université Claude Bernard - Lyon I
9: Institut de Chimie et Biochimie Moléculaires et Supramoléculaires (ICBMS)
CNRS : UMR5246 – Université Claude Bernard - Lyon I – Institut National des Sciences Appliquées (INSA) - Lyon – École Supérieure Chimie Physique Électronique de Lyon
10: Firmenich SA
Firmenich
11: Centre de Recherches de Climatologie (CRC)
CNRS : UMR5210 – Université de Bourgogne
12: Centre d'étude des environnements terrestre et planétaires (CETP)
CNRS : UMR8639 – INSU – Université de Versailles Saint-Quentin-en-Yvelines
13: Laboratoire Lasers, Plasmas et Procédés photoniques (LP3)
CNRS : UMR6182 – Université de la Méditerranée - Aix-Marseille II

hal-00272329, version 1
http://hal.archives-ouvertes.fr/hal-00272329
oai:hal.archives-ouvertes.fr:hal-00272329
From: Genevieve Bard <>
Submitted on: Friday, 11 April 2008 12:06:38
Updated on: Friday, 11 April 2008 12:06:38

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PubMed: 16786525

DOI: 10.1002/ana.20905

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%% hal-00272329, version 1
%% http://hal.archives-ouvertes.fr/hal-00272329
@article{fournier:hal-00272329,
    hal_id = {hal-00272329},
    url = {http://hal.archives-ouvertes.fr/hal-00272329},
    title = {{Cold extends electromyography distinction between ion channel mutations causing myotonia.}},
    author = {Fournier, Emmanuel and Viala, Karine and Gervais, H{\'e}l{\`e}ne and Sternberg, Damien and Arzel-H{\'e}zode, Marianne and Lafor{\^e}t, Pascal and Eymard, Bruno and Tabti, Nacira and Willer, Jean-Claude and Vial, Christophe and Fontaine, Bertrand},
    abstract = {{OBJECTIVE: Myotonias are inherited disorders of the skeletal muscle excitability. Nondystrophic forms are caused by mutations in genes coding for the muscle chloride or sodium channel. Myotonia is either relieved or worsened by repeated exercise and can merge into flaccid weakness during exposure to cold, according to causal mutations. We designed an easy electromyography (EMG) protocol combining repeated short exercise and cold as provocative tests to discriminate groups of mutations. METHODS: Surface-recorded compound muscle action potential was used to monitor muscle electrical activity. The protocol was applied on 31 unaffected control subjects and on a large population of 54 patients with chloride or sodium channel mutations known to cause the different forms of myotonia. RESULTS: In patients, repeated short exercise test at room temperature disclosed three distinct abnormal patterns of compound muscle action potential changes (I-III), which matched the clinical symptoms. Combining repeated exercise with cold exposure clarified the EMG patterns in a way that enabled a clear correlation between the electrophysiological and genetic defects. INTERPRETATION: We hypothesize that segregation of mutations into the different EMG patterns depended on the underlying pathophysiological mechanisms. Results allow us to suggest EMG guidelines for the molecular diagnosis, which can be used in clinical practice.}},
    language = {English},
    affiliation = {F{\'e}d{\'e}ration de Neurophysiologie Clinique and Centre de R{\'e}f{\'e}rence des Canalopathies Musculaires , Physiopathologie et th{\'e}rapie du muscle stri{\'e} , Physiologie et physiopathologie de la motricit{\'e} chez l'homme , F{\'e}d{\'e}ration des Pathologies du Sommeil , Laboratoire des Sciences du G{\'e}nie Chimique - LSGC , Laboratoire de Probabilit{\'e}s et Mod{\`e}les Al{\'e}atoires - LPMA , Mod{\'e}lisation al{\'e}atoire de Paris X - MODAL'X , Enzymes, membranes biologiques et biomim{\'e}tiques - EMBB , Institut de Chimie et Biochimie Mol{\'e}culaires et Supramol{\'e}culaires - ICBMS , Firmenich SA , Centre de Recherches de Climatologie - CRC , Centre d'{\'e}tude des environnements terrestre et plan{\'e}taires - CETP , Laboratoire Lasers, Plasmas et Proc{\'e}d{\'e}s photoniques - LP3},
    pages = {356-65},
    journal = {Annals of Neurology},
    volume = {60},
    number = {3 },
    audience = {international },
    doi = {10.1002/ana.20905 },
    year = {2006},
    month = Sep,
}

%F hal-00272329, version 1
%0 Journal Article
%U http://hal.archives-ouvertes.fr/hal-00272329
%2 SDV:BA:MVSA
%T Cold extends electromyography distinction between ion channel mutations causing myotonia.
%A Fournier, Emmanuel
%A Viala, Karine
%A Gervais, Hélène
%A Sternberg, Damien
%A Arzel-Hézode, Marianne
%A Laforêt, Pascal
%A Eymard, Bruno
%A Tabti, Nacira
%A Willer, Jean-Claude
%A Vial, Christophe
%A Fontaine, Bertrand
%+ Fédération de Neurophysiologie Clinique and Centre de Référence des Canalopathies Musculaires , Physiopathologie et thérapie du muscle strié , Physiologie et physiopathologie de la motricité chez l'homme , Fédération des Pathologies du Sommeil , Laboratoire des Sciences du Génie Chimique - LSGC , Laboratoire de Probabilités et Modèles Aléatoires - LPMA , Modélisation aléatoire de Paris X - MODAL'X , Enzymes, membranes biologiques et biomimétiques - EMBB , Institut de Chimie et Biochimie Moléculaires et Supramoléculaires - ICBMS , Firmenich SA , Centre de Recherches de Climatologie - CRC , Centre d'étude des environnements terrestre et planétaires - CETP , Laboratoire Lasers, Plasmas et Procédés photoniques - LP3
%X OBJECTIVE: Myotonias are inherited disorders of the skeletal muscle excitability. Nondystrophic forms are caused by mutations in genes coding for the muscle chloride or sodium channel. Myotonia is either relieved or worsened by repeated exercise and can merge into flaccid weakness during exposure to cold, according to causal mutations. We designed an easy electromyography (EMG) protocol combining repeated short exercise and cold as provocative tests to discriminate groups of mutations. METHODS: Surface-recorded compound muscle action potential was used to monitor muscle electrical activity. The protocol was applied on 31 unaffected control subjects and on a large population of 54 patients with chloride or sodium channel mutations known to cause the different forms of myotonia. RESULTS: In patients, repeated short exercise test at room temperature disclosed three distinct abnormal patterns of compound muscle action potential changes (I-III), which matched the clinical symptoms. Combining repeated exercise with cold exposure clarified the EMG patterns in a way that enabled a clear correlation between the electrophysiological and genetic defects. INTERPRETATION: We hypothesize that segregation of mutations into the different EMG patterns depended on the underlying pathophysiological mechanisms. Results allow us to suggest EMG guidelines for the molecular diagnosis, which can be used in clinical practice.
%G English
%R 10.1002/ana.20905
%J Annals of Neurology
%2 international
%8 2006-09-00
%V 60
%N 3
%P 356-65
%K Action Potentials; Adolescent; Adult; Aged; Calcium Channels; Cold; Electromyography; Exercise Test; Female; Humans; Ion Channels; Male; Middle Aged; Muscle, Skeletal; Mutation; Myotonia; Potassium Channels; Sodium Channels; Temperature Sense; Time Factors

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