Download Actualités en rééducation des maladies neuro-musculaires de by Philippe Thoumie PDF

By Philippe Thoumie

Les maladies neuro-musculaires constituent un champ extr?mement vaste qui concerne les pathologies cong?nitales ou acquises du muscle et du nerf p?riph?rique. Le propos de cet ouvrage est de r?unir l’exp?rience de praticiens impliqu?s dans des points tr?s particuliers de los angeles r??ducation des affections neuro-musculaires de l’adulte. Ainsi, le lecteur pourra s’approprier cette approche dans sa pratique quotidienne en adaptant les actes dont il est familier ? une pathologie qui, bien que faisant partie des " maladies rares ", ne doit pas rester orpheline d’une prise en cost adapt?e.

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Neuroepidemiology 12: 262-9 8. Prevalence, age and distribution of diagnosis with special reference to "non Duchenne muscular dystrophy". Clin Genet 34: 145-52 9. Darin N, Tulinius M (2000) Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden. Neuromuscul Disord 10: 1-9 10. Talkop UA, Kahre T, Napa A et al. (2003) A descriptive epidemiological study of Duchenne muscular dystrophy in childhood in Estonia. Eur J Paediatr Neurol 7: 221-6 11. Jeppesen J, Green A, Steffensen BF, Rahbek J (2003) The Duchenne muscular dystrophy population in Denmark, 1977-2001: prevalence, incidence and survival in relation to the introduction of ventilator use.

Am J Phys Med Rehabil 79: 193-6 34 Actualités en rééducation des maladies neuro-musculaires de l’adulte 4. Fowler WM, Abresch RT, Aitkens S et al. (1995) Profiles of neuromuscular diseases. Design of the protocol. Am J Phys Med Rehabil 74 (5 Suppl): S62-S69 5. Emery AE (1991) Population frequencies of inherited neuromuscular diseases. I. A world survey. Neuromuscul Disord 1: 19-29 6. Hughes MI, Hicks EM, Nevin NC, Patterson VH (1996) The prevalence of inherited neuromuscular disease in Northern Ireland.

La taille du triplet augmente de génération en génération, ce qui explique l’anticipation. La progression est maximale (de quelques centaines de triplets à plusieurs milliers) pour les couples mère-enfant, phénomène rendant compte de la transmission maternelle des formes néonatales. La détection de la mutation sur un échantillon sanguin est très utile pour dépister des sujets peu ou non symptomatiques (susceptibles de transmettre la maladie et de développer des complications de la maladie) et pour le diagnostic prénatal.

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