ACTG2-related disorders

Disease Overview

ACTG2-related disorders are a subset of visceral myopathy (a condition where the intestine is unable to push food through but where there is not a real intestinal obstruction) with variable involvement of the bladder and intestine. Bladder involvement can range from neonatal megacystis (a bladder with increased size) and megaureter (ureter abnormally wide) at the more severe end, to recurrent urinary tract infections and bladder dysfunction at the milder end. It includes three different conditions, megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), Prune belly sequence or syndrome and chronic intestinal pseudoobstruction (CIPO). It is caused by alterations (mutations) of the ACTG2 gene and is inherited in an autosomal dominant manner.  Affected infants (with or without evidence of intestinal malrotation) often present with feeding intolerance and findings of non-mechanical bowel obstruction that persist after successful surgical correction of malrotation. Individuals who develop manifestations of CIPO in later childhood or adulthood oftenhave episodic waxing and waning of bowel motility. They may need frequent abdominal surgeries (perhaps related to  intestinal malrotation or adhesions causing mechanical obstruction) resulting in resection of dilated segments of bowel, often becoming dependent on total parenteral nutrition.[9513]