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DYSTROPHIE MYOTONIQUE [8 records]
Record 1 - internal organization data 2013-12-20
Record 1, English
Record 1, Subject field(s)
- Symptoms (Medicine)
- Nervous System
Record 1, Main entry term, English
- myotonia
1, record 1, English, myotonia
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
Delayed relaxation of a muscle after an initial contraction, characteristic of certain diseases such as myotonia congenita, myotonic dystrophy, and paramyotonia of von Eulenberg. 2, record 1, English, - myotonia
Record 1, French
Record 1, Domaine(s)
- Symptômes (Médecine)
- Système nerveux
Record 1, Main entry term, French
- myotonie
1, record 1, French, myotonie
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Lenteur à la décontraction musculaire, observée dans la myotonie congénitale(maladie de Thomsen), dans la paramyotonie(paralysie périodique de type hyperkaliémique) et dans la dystrophie myotonique. 2, record 1, French, - myotonie
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Síntomas (Medicina)
- Sistema nervioso
Record 1, Main entry term, Spanish
- miotonía
1, record 1, Spanish, mioton%C3%ADa
correct, feminine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record 2 - internal organization data 2012-09-10
Record 2, English
Record 2, Subject field(s)
- Genetics
Record 2, Main entry term, English
- restriction fragment
1, record 2, English, restriction%20fragment
correct
Record 2, Abbreviations, English
Record 2, Synonyms, English
Record 2, Textual support, English
Record number: 2, Textual support number: 1 DEF
Any of the individual polynucleotide sequences produced by digestion of deoxyribonucleic acid with a restriction endonuclease. 2, record 2, English, - restriction%20fragment
Record 2, French
Record 2, Domaine(s)
- Génétique
Record 2, Main entry term, French
- fragment de restriction
1, record 2, French, fragment%20de%20restriction
correct, masculine noun
Record 2, Abbreviations, French
Record 2, Synonyms, French
Record 2, Textual support, French
Record number: 2, Textual support number: 1 CONT
Nos sujets sont la caractérisation de polymorphismes de fragment de restriction de l'ADN(RFLP) associés au phénotype de troubles affectifs bipolaires, l'identification du gène responsable du glaucome juvénile à angle ouvert, l'identification de l'enzyme responsable dans la dystrophie myotonique de Steinert, tout comme l'hybridation «in situ» chromosomique pour des fins diagnostiques et de recherche [...] 2, record 2, French, - fragment%20de%20restriction
Record 2, Spanish
Record 2, Campo(s) temático(s)
- Genética
Record 2, Main entry term, Spanish
- fragmento de restricción
1, record 2, Spanish, fragmento%20de%20restricci%C3%B3n
correct, masculine noun
Record 2, Abbreviations, Spanish
Record 2, Synonyms, Spanish
Record 2, Textual support, Spanish
Record number: 2, Textual support number: 1 DEF
Molécula acortada de ADN generada por la rotura de una molécula mayor por la acción de una o más endonucleasas de restricción. 1, record 2, Spanish, - fragmento%20de%20restricci%C3%B3n
Record 3 - internal organization data 2011-03-17
Record 3, English
Record 3, Subject field(s)
- Genetics
Record 3, Main entry term, English
- Steinert's disease 1, record 3, English, Steinert%27s%20disease
Record 3, Abbreviations, English
Record 3, Synonyms, English
- Batten's disease 1, record 3, English, Batten%27s%20disease
- Batten-Steinert syndrome 1, record 3, English, Batten%2DSteinert%20syndrome
- Curschmann-Batten-Steinert syndrome 1, record 3, English, Curschmann%2DBatten%2DSteinert%20syndrome
- Curschmann-Steinert syndrome 1, record 3, English, Curschmann%2DSteinert%20syndrome
- myotonia atrophica 1, record 3, English, myotonia%20atrophica
- atrophic myotonia 1, record 3, English, atrophic%20myotonia
- myotonic dystrophy 1, record 3, English, myotonic%20dystrophy
- dystrophia myotonica 1, record 3, English, dystrophia%20myotonica
Latin
Record 3, Textual support, English
Record number: 3, Textual support number: 1 DEF
A rare, slowly progressive hereditary disease transmitted as an autosomal dominant trait, characterized by myotonia followed by atrophy of the muscles (especially those of the face and neck), cataracts, hypogonadism, frontal balding, and cardiac abnormalities. 1, record 3, English, - Steinert%27s%20disease
Record 3, French
Record 3, Domaine(s)
- Génétique
Record 3, Main entry term, French
- maladie de Steinert
1, record 3, French, maladie%20de%20Steinert
feminine noun
Record 3, Abbreviations, French
Record 3, Synonyms, French
- atrophie myotonique 1, record 3, French, atrophie%20myotonique
feminine noun
- dystrophie myotonique 1, record 3, French, dystrophie%20myotonique
- myopathie atrophique avec myotonie 1, record 3, French, myopathie%20atrophique%20avec%20myotonie
feminine noun
- myopathie myotonique 1, record 3, French, myopathie%20myotonique
- myotonie atrophique 1, record 3, French, myotonie%20atrophique
feminine noun
- myotonie dystrophique 1, record 3, French, myotonie%20dystrophique
masculine noun
- syndrome de Batten Steinert 1, record 3, French, syndrome%20de%20Batten%20Steinert
masculine noun
- syndrome de Curschmann-Batten-Steinert 1, record 3, French, syndrome%20de%20Curschmann%2DBatten%2DSteinert
- dystrophia myotonica 1, record 3, French, dystrophia%20myotonica
Latin
Record 3, Textual support, French
Record number: 3, Textual support number: 1 DEF
Affection héréditaire à transmission autosomique dominante, caractérisée par une atrophie musculaire extrême atteignant la face et l’extrémité distale des membres, associée à une myotonie modérée. Les troubles dystrophiques ne sont pas seulement limités au tissu musculaire, mais peuvent aussi atteindre les cheveux (alopécie), le cristallin (cataracte) et les gonades. 1, record 3, French, - maladie%20de%20Steinert
Record number: 3, Textual support number: 1 CONT
Quant aux complications testiculaires de la myopathie myotonique (maladie de Steinert), elles sont tardives et précédées d’une période de fertilité. 1, record 3, French, - maladie%20de%20Steinert
Record 3, Spanish
Record 3, Textual support, Spanish
Record 4 - internal organization data 2006-03-31
Record 4, English
Record 4, Subject field(s)
- Human Diseases - Various
- Muscles and Tendons
Record 4, Main entry term, English
- myotonic dystrophy
1, record 4, English, myotonic%20dystrophy
correct
Record 4, Abbreviations, English
Record 4, Synonyms, English
- Steinert's disease 1, record 4, English, Steinert%27s%20disease
correct
Record 4, Textual support, English
Record number: 4, Textual support number: 1 CONT
Myotonic dystrophy, also known as Steinert's disease, is the most common form of muscle disease, affecting approximately one person in 8,000 worldwide. It is a disorder characterized by progressive muscle weakness and wasting and by myotonia (difficulty in relaxing the muscles after they have been contracted). It is a multisystem disease, typically involving a wide range of other tissues as well as muscle. 1, record 4, English, - myotonic%20dystrophy
Record 4, French
Record 4, Domaine(s)
- Maladies humaines diverses
- Muscles et tendons
Record 4, Main entry term, French
- dystrophie myotonique
1, record 4, French, dystrophie%20myotonique
correct, feminine noun
Record 4, Abbreviations, French
Record 4, Synonyms, French
- maladie de Steinert 1, record 4, French, maladie%20de%20Steinert
correct, feminine noun
Record 4, Textual support, French
Record number: 4, Textual support number: 1 CONT
La dystrophie myotonique, également connue sous le nom de maladie de Steinert, est la forme adulte de dystrophie musculaire la plus fréquemment diagnostiquée. Elle est caractérisée principalement par un affaiblissement et une atrophie musculaires progressives, et par une myotonie(difficulté à relaxer un muscle ou un groupe de muscles une fois qu'ils ont été contractés). C'est une maladie multisystémique, touchant un vaste éventail de tissus en plus des muscles. 1, record 4, French, - dystrophie%20myotonique
Record 4, Spanish
Record 4, Textual support, Spanish
Record 5 - internal organization data 2006-02-28
Record 5, English
Record 5, Subject field(s)
- Ice Hockey
Record 5, Main entry term, English
- pick-up hockey
1, record 5, English, pick%2Dup%20hockey
correct
Record 5, Abbreviations, English
Record 5, Synonyms, English
- pickup hockey 2, record 5, English, pickup%20hockey
correct
Record 5, Textual support, English
Record number: 5, Textual support number: 1 CONT
The best methods for becoming a proficient stick handler are practicing with a puck on the garage floor and playing pickup hockey on the outdoor rinks. 2, record 5, English, - pick%2Dup%20hockey
Record number: 5, Textual support number: 1 OBS
Pick-up hockey may be played in indoor or outdoor rinks or in the street, with or without skates. 3, record 5, English, - pick%2Dup%20hockey
Record 5, French
Record 5, Domaine(s)
- Hockey sur glace
Record 5, Main entry term, French
- hockey improvisé
1, record 5, French, hockey%20improvis%C3%A9
correct, masculine noun
Record 5, Abbreviations, French
Record 5, Synonyms, French
Record 5, Textual support, French
Record number: 5, Textual support number: 1 CONT
Durant des années, Debbey a d’ailleurs perfectionné ses compétences en jouant au hockey improvisé avec des hommes chaque dimanche soir, jusqu'au jour où la dystrophie myotonique, un trouble génétique dont elle souffre depuis sa naissance, est venue ralentir ses activités. 1, record 5, French, - hockey%20improvis%C3%A9
Record number: 5, Textual support number: 1 OBS
Le hockey improvisé peut se jouer dans les arènes intérieures ou extérieures ou dans les rues avec ou sans patins. 2, record 5, French, - hockey%20improvis%C3%A9
Record number: 5, Textual support number: 1 PHR
Match de hockey improvisé. 3, record 5, French, - hockey%20improvis%C3%A9
Record number: 5, Textual support number: 2 PHR
Partie de hockey improvisée. 4, record 5, French, - hockey%20improvis%C3%A9
Record 5, Spanish
Record 5, Textual support, Spanish
Record 6 - internal organization data 2000-10-24
Record 6, English
Record 6, Subject field(s)
- Cardiovascular System
Record 6, Main entry term, English
- left ventricular function
1, record 6, English, left%20ventricular%20function
correct
Record 6, Abbreviations, English
Record 6, Synonyms, English
Record 6, Textual support, English
Record number: 6, Textual support number: 1 CONT
In this project, methods are developed for quantification of left ventricular function from magnetic resonance imaging (MRI) of the heart. 1, record 6, English, - left%20ventricular%20function
Record 6, French
Record 6, Domaine(s)
- Système cardio-vasculaire
Record 6, Main entry term, French
- fonction ventriculaire gauche
1, record 6, French, fonction%20ventriculaire%20gauche
correct, feminine noun
Record 6, Abbreviations, French
Record 6, Synonyms, French
Record 6, Textual support, French
Record number: 6, Textual support number: 1 CONT
Si le plus souvent, la fonction ventriculaire gauche est normale au repos, quelques cas de cardiomyopathie dilatée et/ou de dysfonction ventriculaire gauche sévère ont été rapportés comme manifestations cliniques principales de la DM [dystrophie myotonique]. 1, record 6, French, - fonction%20ventriculaire%20gauche
Record 6, Spanish
Record 6, Textual support, Spanish
Record 7 - internal organization data 1994-05-12
Record 7, English
Record 7, Subject field(s)
- Muscles and Tendons
Record 7, Main entry term, English
- Landouzy-Dejerine dystrophy
1, record 7, English, Landouzy%2DDejerine%20dystrophy
correct
Record 7, Abbreviations, English
Record 7, Synonyms, English
- facioscapulohumeral muscular dystrophy 2, record 7, English, facioscapulohumeral%20muscular%20dystrophy
correct
- facioscapulohumeral muscular atrophy 1, record 7, English, facioscapulohumeral%20muscular%20atrophy
Record 7, Textual support, English
Record number: 7, Textual support number: 1 DEF
a relatively benign autosomal dominant form of muscular dystrophy in which there is marked atrophy of the muscles of the face, shoulder girdle, and arm, producing a facial expression called myopathic face. 1, record 7, English, - Landouzy%2DDejerine%20dystrophy
Record 7, French
Record 7, Domaine(s)
- Muscles et tendons
Record 7, Main entry term, French
- myopathie facio-scapulo-humérale de Landouzy Déjerine
1, record 7, French, myopathie%20facio%2Dscapulo%2Dhum%C3%A9rale%20de%20Landouzy%20D%C3%A9jerine
correct, feminine noun
Record 7, Abbreviations, French
Record 7, Synonyms, French
- myopathie facio-scapulo-humérale 2, record 7, French, myopathie%20facio%2Dscapulo%2Dhum%C3%A9rale
correct, feminine noun
- FSH 3, record 7, French, FSH
feminine noun
- FSH 3, record 7, French, FSH
- myopathie de Landouzy-Déjerine 4, record 7, French, myopathie%20de%20Landouzy%2DD%C3%A9jerine
correct, feminine noun
Record 7, Textual support, French
Record number: 7, Textual support number: 1 CONT
Deux entités également toutes deux fréquentes sont à envisager : myopathie facio-scapulo-humérale(FSH) et dystrophie myotonique de Steinert. La FSH, encore appelée myopathie de Landouzy-Déjerine, débute habituellement dans la deuxième décennie et se manifeste par une atteinte musculaire asymétrique et sélective affectant la face(orbiculaires, muscles des joues et des lèvres), la ceinture scapulaire(fixateurs de l'omoplate avec respect relatif des deltoïdes). 4, record 7, French, - myopathie%20facio%2Dscapulo%2Dhum%C3%A9rale%20de%20Landouzy%20D%C3%A9jerine
Record 7, Spanish
Record 7, Textual support, Spanish
Record 8 - internal organization data 1981-02-23
Record 8, English
Record 8, Subject field(s)
- Genetics
Record 8, Main entry term, English
- athyreosis 1, record 8, English, athyreosis
Record 8, Abbreviations, English
Record 8, Synonyms, English
Record 8, Textual support, English
Record number: 8, Textual support number: 1 DEF
Inadequate or absent secretion of thyroid hormone, producing the typical picture of cretinism in infancy and of myxedema in children and adults. 1, record 8, English, - athyreosis
Record 8, French
Record 8, Domaine(s)
- Génétique
Record 8, Main entry term, French
- athyréose
1, record 8, French, athyr%C3%A9ose
feminine noun
Record 8, Abbreviations, French
Record 8, Synonyms, French
Record 8, Textual support, French
Record number: 8, Textual support number: 1 DEF
État consécutif à l’absence ou à une forte diminution de l’activité endocrinienne de la thyroïde. 1, record 8, French, - athyr%C3%A9ose
Record number: 8, Textual support number: 1 CONT
(Dysgénésies testiculaires) À propos de ces faits, il convient de rappeler qu'il n’ est pas rare que l'entourage des XXY se distingue par une pathologie variée : endocrinienne : athyréose; neuro-sensorielle :dystrophie myotonique, ataxie cérébelleuse, rétinite pigmentaire; mentale : schizophrénie. 1, record 8, French, - athyr%C3%A9ose
Record 8, Spanish
Record 8, Textual support, Spanish
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