Le Registre Dystrophie Myotonique (Myotonic Dystrophy Family Registry, .. fait en Californie et au Minnesota sur la dystrophie myotonique de Steinert à la. La dystrophie myotonique de Steinert (DM) est la plus fréquente des affections musculaires héréditaires non liées au sexe (incidence 1/). Le gène a été. Douze observations de dystrophie myotonique à début néonatal sont presentées . Six de ces observations comportaient une défaillance respiratoire néonatale.
|Published (Last):||6 February 2013|
|PDF File Size:||1.54 Mb|
|ePub File Size:||15.91 Mb|
|Price:||Free* [*Free Regsitration Required]|
Dystrophie Myotonique de Type 1 – Maladie de Steinert – Description
The case of a week-old premature female infant, conceived by myotnoique vitro fertilization, is reported. Literature review and research perspectives. Access to the full text of this article requires a subscription.
You may thus request that myotonqiue data, should it be inaccurate, incomplete, unclear, outdated, not be used or stored, be corrected, clarified, updated or deleted. Fatigue is one of the depression symptoms. The potential impact of in vitro fertilization on disease expression may also be considered.
To better apprehend factors that may be involved in subjective fatigue in Steinert disease. Personal information dystfophie our website’s visitors, including their identity, is confidential.
The signification of such ventilatory needs on patient outcome, particularly for motor handicaps, speech and language delay, and mental deficiency, remains uncertain.
Van Den Hende dystropiheS. As per the Law relating to information storage and personal integrity, you have the right to oppose art 26 of that lawaccess art 34 of that law and rectify art 36 of that law your personal data. Thus, more than in any other muscular diseases, factors that are not purely physical seem dystropyie be involved in fatigue felt by patients with Steinert disease.
You can move this window by clicking on the headline.
Congenital myotonic dystrophy type I in a very premature neonate: Mesnage aA. Fatigue, Myotonic dystrophy, Neurological diseases, Neuromuscular diseases, Psychology. The infant was extubated after 2 months. Access to the text HTML. The ssteinert of this website hereby guarantee to respect the legal confidentiality conditions, applicable in France, and not to disclose this data to third parties.
Ethical myotoniqur about withdrawal or maintenance of intensive care was engaged, taking into account the prolonged ventilation, the degree of prematurity, and the parental wishes for maximum care.
Journal page Archives Contents list. Distinctions entre fatigue et somnolence dans la DM1.
There was a problem providing the content you requested
CDM1 is a severe condition, but variability in clinical manifestations and absence of genotype—phenotype correlation result in problems predicting prognosis at the individual level. Two prognostic factors predict the risk of death in early infancy: Gargiulo aM.
Montreuil bB. At 17 dde, motor development and precursors of language were delayed, and difficulties in feeding had required a gastrostomy.
Physical, mental and subjective fatigues are well known different types of fatigue. Outline Masquer le plan. You may thus request that your data, should it be inaccurate, incomplete, unclear, outdated, not be used or stored, be corrected, clarified, updated or deleted. You can move this window by clicking on the headline.
Fatigue in Steinert myotonic dystrophy: As per the Law relating to information storage and personal integrity, you have the right to oppose art 26 of that lawaccess art 34 of that law and rectify art 36 of that law your personal data. If you are a subscriber, please sign in ‘My Account’ at the top right of the screen. Technical advances in neonatal intensive care now allow CDM1 children to survive prolonged ventilation.
Contact Help Who are we? Steinert myotonic dystrophy is one of the most frequent adult hereditary myopathies. However, clinically, it seems inefficient to try to understand those concepts separately, since they are highly intricate. Outline Masquer le plan.
Top of the page – Article Outline.