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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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[Encopresis revealing myotonic dystrophy in 2 children]

J Avez-Couturier1, L Michaud, J-M Cuisset

  • 1Unité de gastroentérologie, hépatologie et nutrition, clinique de pédiatrie, hôpital Jeanne-de-Flandre, CHRU de Lille, avenue Eugène-Avinée, 59037 Lille cedex, France.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|March 31, 2009
PubMed

Insights

Gastrointestinal issues are common in myotonic dystrophy and can be early signs. Prompt evaluation for encopresis in children may reveal this genetic disorder, improving management.

Area of Science:

  • Neurology
  • Gastroenterology
  • Genetics

Context:

  • Gastrointestinal (GI) symptoms are frequently observed in patients with myotonic dystrophy but often overlooked.
  • These GI manifestations can be the initial indicators of the disease, prompting diagnostic investigation.

Purpose:

  • To highlight the significance of gastrointestinal symptoms as potential early signs of myotonic dystrophy.
  • To present two pediatric cases where encopresis led to the diagnosis of myotonic dystrophy.
  • To emphasize the importance of considering myotonic dystrophy in the differential diagnosis of unexplained encopresis.

Summary:

  • This study reports two pediatric cases of myotonic dystrophy presenting with persistent encopresis unresponsive to laxative treatment.
  • Diagnosis was established through neurological examination and anorectal manometry.
  • Initiation of procainamide treatment led to improvement in the digestive symptoms.

Impact:

  • Underscores the need for a comprehensive evaluation for myotonic dystrophy in children with encopresis.
  • Recommends that physicians actively screen for upper and/or lower GI symptoms in all myotonic dystrophy patients.
  • Enhances early diagnosis and management of myotonic dystrophy by recognizing its diverse clinical presentations.

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