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Faecal incontinence due to atrophy of the anal sphincter in myotonic dystrophy: a case report

JELLE DEGRAEUWE UGent, Erik Van Laecke UGent, Martine De Muynck UGent, Stephanie Van Biervliet UGent, SASKIA VANDE VELDE UGent and Myriam Van Winckel UGent (2011) ACTA GASTRO-ENTEROLOGICA BELGICA. 74(1). p.88-90
abstract
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. Abbreviations DM1: Myotonic Dystrophy type 1 DMPK: Dystrophia Myotonica Protein Kinase
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
faecal incontinence, myotonic dystrophy type 1, GASTROINTESTINAL-TRACT, MUSCULAR-DYSTROPHY, SYMPTOMS
journal title
ACTA GASTRO-ENTEROLOGICA BELGICA
Acta Gastro-Enterol. Belg.
volume
74
issue
1
pages
88 - 90
Web of Science type
Article
Web of Science id
000290242900014
JCR category
GASTROENTEROLOGY & HEPATOLOGY
JCR impact factor
0.638 (2011)
JCR rank
69/73 (2011)
JCR quartile
4 (2011)
ISSN
0001-5644
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
1166734
handle
http://hdl.handle.net/1854/LU-1166734
date created
2011-02-23 13:16:58
date last changed
2015-06-17 09:27:12
@article{1166734,
  abstract     = {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.  
Abbreviations
DM1: Myotonic Dystrophy type 1
DMPK: Dystrophia Myotonica Protein Kinase},
  author       = {DEGRAEUWE, JELLE and Van Laecke, Erik and De Muynck, Martine and Van Biervliet, Stephanie and VANDE VELDE, SASKIA and Van Winckel, Myriam},
  issn         = {0001-5644},
  journal      = {ACTA GASTRO-ENTEROLOGICA BELGICA},
  keyword      = {faecal incontinence,myotonic dystrophy type 1,GASTROINTESTINAL-TRACT,MUSCULAR-DYSTROPHY,SYMPTOMS},
  language     = {eng},
  number       = {1},
  pages        = {88--90},
  title        = {Faecal incontinence due to atrophy of the anal sphincter in myotonic dystrophy: a case report},
  volume       = {74},
  year         = {2011},
}

Chicago
DEGRAEUWE, JELLE, Erik Van Laecke, Martine De Muynck, Stephanie Van Biervliet, Saskia Vande Velde, and Myriam Van Winckel. 2011. “Faecal Incontinence Due to Atrophy of the Anal Sphincter in Myotonic Dystrophy: a Case Report.” Acta Gastro-enterologica Belgica 74 (1): 88–90.
APA
DEGRAEUWE, J., Van Laecke, E., De Muynck, M., Van Biervliet, S., Vande Velde, S., & Van Winckel, M. (2011). Faecal incontinence due to atrophy of the anal sphincter in myotonic dystrophy: a case report. ACTA GASTRO-ENTEROLOGICA BELGICA, 74(1), 88–90.
Vancouver
1.
DEGRAEUWE J, Van Laecke E, De Muynck M, Van Biervliet S, Vande Velde S, Van Winckel M. Faecal incontinence due to atrophy of the anal sphincter in myotonic dystrophy: a case report. ACTA GASTRO-ENTEROLOGICA BELGICA. 2011;74(1):88–90.
MLA
DEGRAEUWE, JELLE, Erik Van Laecke, Martine De Muynck, et al. “Faecal Incontinence Due to Atrophy of the Anal Sphincter in Myotonic Dystrophy: a Case Report.” ACTA GASTRO-ENTEROLOGICA BELGICA 74.1 (2011): 88–90. Print.