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DYSTROPHIE MYOTONIQUE DE STEINERT PDF

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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.

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If you want to subscribe to this journal, see our rates You can purchase this item in Pay Per View: Access to the PDF text. Journal page Archives Contents list. Literature on fatigue showed how relevant this trouble could be for a majority of patients; and also how specific fatigue could be in Steinert disease, compared to other neuromuscular pathologies: If you are a subscriber, please sign in ‘My Account’ at the top right of the screen.

Fatigue, Myotonic dystrophy, Neurological diseases, Neuromuscular diseases, Psychology. At 17 months, motor development and precursors of language were delayed, and difficulties in feeding had required a gastrostomy. You may thus request that your data, should it be inaccurate, incomplete, unclear, outdated, not be used or stored, be corrected, clarified, updated or deleted.

Dystrophie Myotonique de Type 1 – Maladie de Steinert – Description

Thus, more than in any other muscular diseases, factors that are not purely physical seem to be involved in fatigue felt by patients with Steinert disease.

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We have examined literature about other affections for which fatigue were richly documented. La fatigue dans la dystrophie myotonique de Steinert: Gargiulo aM.

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You can move this window by clicking on the headline. Physical, mental and subjective fatigues are well known different types of fatigue. Access to the PDF text. Fatigue is one of the depression symptoms. If you want to subscribe to this journal, see our rates You can purchase this ateinert in Pay Per View: To better apprehend factors that may be involved in subjective fatigue in Steinert disease.

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However, clinically, it seems inefficient to try to understand those concepts separately, since they are highly intricate. 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 myotoniqud data.

Access to the full text of this article requires a subscription. Personal information regarding our website’s visitors, including their identity, is confidential. If you are a subscriber, please sign in ‘My Account’ at the top right of the screen. Fatigue in Steinert myotonic dystrophy: Two prognostic factors predict the risk of death in early infancy: Literature review and research perspectives.

Myotoniquw page Archives Contents list. Ethical concertation 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. Top of the page – Article Outline. Top of the page myotohique Article Outline. 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.

Filleron bG.

Access to the text HTML. You can move this window by clicking on the headline. Access to the text HTML. Mesnage aA. Generalized hypotonia led to the diagnosis of the disease.

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La maladie de Steinert: Montreuil bB. Van Den Hende aS. Outline Masquer le plan. The signification of such ventilatory needs on patient outcome, particularly for motor handicaps, speech and language delay, and mental deficiency, remains uncertain.

You myotoinque thus request that your data, should it be inaccurate, incomplete, unclear, outdated, not be used or stored, be corrected, clarified, updated or deleted. Affections neurologiques, Dystrophie myotonique type 1, Fatigue, Maladies neuromusculaires, Psychologie.

The case of a week-old premature female infant, conceived by in vitro fertilization, is reported. Personal information regarding our website’s visitors, including their identity, is confidential. The potential impact of in vitro fertilization on disease expression may also be considered. Outline Masquer le plan. Contact Help Who are we?

The owners of this website hereby guarantee to respect the legal confidentiality conditions, applicable in France, and not to disclose this data to third parties. Congenital myotonic dystrophy type I in a very premature neonate: Technical advances in neonatal intensive care now allow CDM1 children to survive prolonged ventilation.

The owners of this website hereby guarantee to respect the legal confidentiality conditions, applicable in France, and not to disclose this data to third parties. The infant was extubated after 2 months.

Ethical issues about the level of care, notably for tracheostomy and gastrostomy, should be adapted to each case, in partnership with parents. Contact Help Who are we?