Mimine1907
Question de Mimine1907


Qui connait la maladie de steinert ? Et ou en sont les recherches ?




Il y a
Warning: mktime(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 9

Warning: date(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 15

Warning: date(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 15
5 ans
Réponses (5)
Nailil35
Je ne connais pas du tout , vais aller voir sur doctissimo

Il y a
Warning: mktime(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 9

Warning: date(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 15

Warning: date(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 15
5 ans

Warning: mktime(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/question.php on line 1155
Claudine670
Je ne connais pas du tout non plus.

Il y a
Warning: mktime(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 9

Warning: date(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 15

Warning: date(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 15
5 ans

Warning: mktime(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/question.php on line 1155
Missdebrouille
J 'ai trouvé cela sur le net car je ne caonnaissais pas voir voir sur DOCTISSIMMO WIKIPEDIA et d 'autres site pourplus d 'infos

Dystrophie myotonique de Steinert
Référence MIM 160900
Transmission Dominante
Chromosome 19 q13.2-q13.3
Gène DMPK
Empreinte parentale Non
Mutation Expansion de triplet
Mutation de novo Rare
Nombre d'allèles pathologiques Sans objet
Anticipation Oui maternelle
Porteur sain Sans objet
Prévalence 1/20 000
Maladie génétiquement liée Aucune
Diagnostic prénatal Possibe

Liste des maladies génétiques à gène identifié
modifier
La dystrophie myotonique de Steinert ou maladie de Steinert est une maladie génétique autosomique dominante, à pénétrance incomplète et marquée par l'anticipation, qui affecte plusieurs organes : le squelette, les muscles lisses, l'œil, le cœur, le système endocrinien et le système nerveux central.

Les signes de cette maladie sont variés allant d'une forme légère à grave. Trois formes sont habituellement décrites selon l'âge d'apparition des premiers symptômes mais dont les limites ne sont pas toujours nettes : légère, classique et congénitale.

La forme légère est caractérisée par une cataracte et une myotonie modérée. L'espérance de vie est normale.
La forme classique est caractérisée par une faiblesse musculaire généralisée et une myotonie généralisée, une cataracte et des troubles de la conduction cardiaque. L'adulte peut perdre son autonomie et l'espérance de vie est réduite si le patient n'est pas suivi pour le coeur.
La forme congénitale avec une hypotonie musculaire, souvent associée à une insuffisance respiratoire avec décès précoce. Le retard mental est fréquent dans cette forme.
La mutation est une expansion instable d'un triplet CTG du gène DMPK. Ce triplet est répété plus de 37 fois chez les personnes atteintes. Le nombre de répétitions du triplet CTG est généralement associé à la sévérité de la maladie ainsi qu'à l'âge d'apparition des symptômes.

Il y a
Warning: mktime(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 9

Warning: date(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 15

Warning: date(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 15
5 ans

Warning: mktime(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/question.php on line 1155
SOLEIL13
Va voir ce site :
http://www.snof.org/maladies/steinert.html

Il y a
Warning: mktime(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 9

Warning: date(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 15

Warning: date(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 15
5 ans

Warning: mktime(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/question.php on line 1155
Veejoolsade
Bon missdé a donné la reponse

Il y a
Warning: mktime(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 9

Warning: date(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 15

Warning: date(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/inc/function-question-reponse.inc.php on line 15
5 ans

Warning: mktime(): It is not safe to rely on the system's timezone settings. You are *required* to use the date.timezone setting or the date_default_timezone_set() function. In case you used any of those methods and you are still getting this warning, you most likely misspelled the timezone identifier. We selected the timezone 'UTC' for now, but please set date.timezone to select your timezone. in /home/web/elleraconte.com/www/question.php on line 1155
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