Visceral myopathy

Definition:

Visceral myopathy (VSCM) is a rare inherited form of myopathic pseudo-obstruction. It is characterized by impaired functions of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe abdominal pain, malnutrition, and even death. VSCM is most commonly caused by mutations in contractile apparatus cytoskeletal proteins.

References:

[1]. Heli J Lehtonen, et al. Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy. Gastroenterology. 2012 Dec;143(6):1482-1491.e3. [Content Brief]

[2]. Sohaib Khalid Hashmi, et al. Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton. Am J Physiol Gastrointest Liver Physiol. 2021 Jun 1;320(6):G919-G935. [Content Brief]

[3]. Weilai Dong, et al. Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing. Clin Genet. 2019 Nov;96(5):473-477. [Content Brief]

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