A number of hereditary conditions may cause a visceral myopathy.
Hereditary conditions associated with visceral myopathy:
(1) ACTG2 visceral myopathy
(2) other visceral myopathies (CHRM3, CHRNA3, EDNRB, EDN3, SOX10, FLNA, LMOD1, MYH11, plus others)
(3) muscular dystrophies
(4) mitochondrial myopathy
The consequences of visceral myopathy are seen in:
(1) the gastrointestinal tract
(2) the bladder
(3) the uterus
Clinical findings:
(1) megacystis
(2) megaureter
(3) chronic intestinal pseudo-obstruction (CIPO)
(4) microcolon or intestinal dilatation (megacolon, megaduodenum, etc)
(5) variable ophthalmoplegia and/or mydriasis
(6) rare prune belly syndrome
(7) malnutrition with need for parenteral nutrition
(8) uterine hypotonia
Syndromes:
(1) megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)
