Megaduodenum and/or megacystis

Common Name(s)

Megaduodenum and/or megacystis

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death ({17:Lehtonen et al., 2012}). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by {39:Wangler et al., 2014}). Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia ({277320}). Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome ({100100}) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Megaduodenum and/or megacystis" for support, advocacy or research.

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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