Titre :
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Diagnostic odyssey of patients with myotonic dystrophy
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Revue :
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Journal of neurology, 260, 10
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Auteurs :
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Hilbert JE ;
Ashizawa T ;
Day JW ;
Luebbe EA ;
Martens WB ;
McDermott MP ;
Tawil R ;
Thornton CA ;
Moxley RT III
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Type de document :
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Article
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Année de publication :
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2013
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Pages :
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p. 2497
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Langues:
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Anglais
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Mots-clés :
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âge de début de la maladie
;
biopsie musculaire
;
diagnostic
;
douleur
;
dystrophie musculaire facio-scapulo-humérale
;
dystrophie myotonique de type 1
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dystrophie myotonique de type 2
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électromyographie
;
Etats-Unis
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faiblesse musculaire
;
génétique
;
muscle squelettique
;
poids de la maladie
;
préhension
;
prise en charge thérapeutique
;
registre de malades
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Mots-clés:
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planning familial;family planning
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Résumé :
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The onset and symptoms of the myotonic dystrophies are diverse, complicating their diagnoses and limiting a comprehensive approach to their clinical care. This report analyzes the diagnostic delay (time from onset of first symptom to diagnosis) in a large sample of myotonic dystrophy (DM) patients enrolled in the US National Registry [679 DM type 1 (DM1) and 135 DM type 2 (DM2) patients]. Age of onset averaged 34.0 ± 14.1 years in DM2 patients compared to 26.1 ± 13.2 years in DM1 (p < 0.0001). The most common initial symptom in DM2 patients was leg weakness (32.6 %) compared to grip myotonia in DM1 (38.3 %). Pain was reported as the first symptom in 11.1 % of DM2 and 3.0 % of DM1 patients (p < 0.0001). Reaching the correct diagnosis in DM2 took 14 years on average (double the time compared to DM1) and a significantly higher percentage of patients underwent extended workup including electromyography, muscle biopsies, and finally genetic testing. DM patients who were index cases experienced similar diagnostic delays to non-index cases of DM. Further evaluation of how to shorten these diagnostic delays and limit their impact on burdens of disease, family planning, and symptom management is needed.
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Lien associé :
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Texte complet disponible en accès libre sur PMC
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Pubmed / DOI :
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DOI : 10.1007/s00415-013-6993-0 / Pubmed : 23807151
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