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Master thesis

La dystrophie myotonique : fréquence et corrélation des troubles cliniques et biologiques d'une cohorte de 70 patients

Abstract : Myotonic dystrophy, caused by presence of an amplification of CTG triplets located on the long arm of chromosome 19, is the most common hereditary muscle diseases. Prevalence is 1 in 20,000, with has many clinical and biological symptoms.The objective of this study was to investigate the frequency of clinical and biological signs, then look for the presence or absence of correlations between them to guide patient monitoring.A prospective study was used to record clinical and biological values.70 cases were studied. 4 clinical and biological criteria have a prevalence exceeding50%. The study shows no gender difference in prevalence of symptoms. No correlation was found for the number of triplets CTG, and any link between the clinical, biology and the number of CTG triplets.
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https://hal.univ-lorraine.fr/hal-01732079
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Arnaud Marchal. La dystrophie myotonique : fréquence et corrélation des troubles cliniques et biologiques d'une cohorte de 70 patients. Sciences du Vivant [q-bio]. 2010. ⟨hal-01732079⟩

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