Degraeuwe J, Van Laecke E, De Muynck M, Van Biervliet S, Vande Velde S, Van Winckel M
Department of Paediatrics, University Hospital Ghent, Belgium.
Acta Gastroenterol Belg. 2011 Mar;74(1):88-90.
Myotonic dystrophy or Steinert disease is an autosomal dominant multisystemic disorder with variable penetrance. The genetic defect is an amplified trinucleotide repeat in the 3-prime untranslated region of a proteinkinase gene on chromosome 19. Severity of symptoms increases with the number of repeats. Patients with myotonic dystrophy often present with gastrointestinal motility problems, such as intermittent diarrhoea, constipation, and also faecal incontinence. The underlying physiopathological mechanism of faecal incontinence differs from classic soiling due to faecal retention. We present a girl with congenital myotonic dystrophy and faecal incontinence due to anal sphincter atrophy; and give an overview of present knowledge on the pathophysiology of gastrointestinal problems associated with myotonic dystrophy.
强直性肌营养不良症或斯坦纳特病是一种常染色体显性多系统疾病，具有可变的外显率。基因缺陷是19号染色体上蛋白激酶基因3'非翻译区的三核苷酸重复序列扩增。症状的严重程度随重复序列数量的增加而加重。强直性肌营养不良症患者常出现胃肠动力问题，如间歇性腹泻、便秘以及大便失禁。大便失禁的潜在生理病理机制与因粪便潴留导致的经典弄脏不同。我们报告一名患有先天性强直性肌营养不良症且因肛门括约肌萎缩导致大便失禁的女孩；并概述了目前关于与强直性肌营养不良症相关的胃肠问题病理生理学的知识。
