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Visceral Myopathies(VSCM)

MedGen UID:
22658
•Concept ID:
C0042781
•
Disease or Syndrome
Synonyms: Myopathy, Visceral; Visceral Myopathy
 
OMIM®: 155310

Professional guidelines

PubMed

Update on the Diagnosis and Management of Acute Colonic Pseudo-obstruction (ACPO).
Sen A, Chokshi R
Curr Gastroenterol Rep 2023 Sep;25(9):191-197. Epub 2023 Jul 24 doi: 10.1007/s11894-023-00881-w. PMID: 37486594
Pathophysiology, Diagnosis, and Management of Chronic Intestinal Pseudo-Obstruction.
Downes TJ, Cheruvu MS, Karunaratne TB, De Giorgio R, Farmer AD
J Clin Gastroenterol 2018 Jul;52(6):477-489. doi: 10.1097/MCG.0000000000001047. PMID: 29877952
A Systematic Review of the Clinical Presentation, Diagnosis, and Treatment of Small Bowel Obstruction.
Rami Reddy SR, Cappell MS
Curr Gastroenterol Rep 2017 Jun;19(6):28. doi: 10.1007/s11894-017-0566-9. PMID: 28439845

Recent clinical studies

Etiology

Intestinal pseudoobstruction caused by diffuse lymphoid infiltration of the small intestine.
McDonald GB, Schuffler MD, Kadin ME, Tytgat GN
Gastroenterology 1985 Oct;89(4):882-9. doi: 10.1016/0016-5085(85)90587-6. PMID: 4029567

Diagnosis

Expanding the genotypic spectrum of ACTG2-related visceral myopathy.
James KN, Lau M, Shayan K, Lenberg J, Mardach R, Ignacio R Jr, Halbach J, Choi L, Kumar S, Ellsworth KA
Cold Spring Harb Mol Case Stud 2021 Jun;7(3) Epub 2021 Jun 11 doi: 10.1101/mcs.a006085. PMID: 33883208Free PMC Article
Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.
Hashmi SK, Ceron RH, Heuckeroth RO
Am J Physiol Gastrointest Liver Physiol 2021 Jun 1;320(6):G919-G935. Epub 2021 Mar 17 doi: 10.1152/ajpgi.00066.2021. PMID: 33729000Free PMC Article
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.
Matera I, Bordo D, Di Duca M, Lerone M, Santamaria G, Pongiglione M, Lezo A, Diamanti A, Spagnuolo MI, Pini Prato A, Alberti D, Mattioli G, Gandullia P, Ceccherini I
Clin Genet 2021 Mar;99(3):430-436. Epub 2020 Dec 14 doi: 10.1111/cge.13895. PMID: 33294969
A Rare Case of Adult-Onset Rectosigmoid Hypoganglionosis.
Aldossary MY, Privitera A, Elzamzami O, Alturki N, Sabr K
Am J Case Rep 2018 May 14;19:557-561. doi: 10.12659/AJCR.907109. PMID: 29755106Free PMC Article
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
Moreno CA, Metze K, Lomazi EA, Bertola DR, Barbosa RH, Cosentino V, Sobreira N, Cavalcanti DP
Am J Med Genet A 2016 Nov;170(11):2965-2974. Epub 2016 Aug 2 doi: 10.1002/ajmg.a.37857. PMID: 27481187Free PMC Article

Therapy

Chronic intestinal pseudo-obstruction caused by an intestinal inflammatory myopathy: case report and review of the literature.
Dewit S, de Hertogh G, Geboes K, Tack J
Neurogastroenterol Motil 2008 Apr;20(4):343-8. Epub 2007 Nov 14 doi: 10.1111/j.1365-2982.2007.01033.x. PMID: 18004985

Prognosis

Expanding the genotypic spectrum of ACTG2-related visceral myopathy.
James KN, Lau M, Shayan K, Lenberg J, Mardach R, Ignacio R Jr, Halbach J, Choi L, Kumar S, Ellsworth KA
Cold Spring Harb Mol Case Stud 2021 Jun;7(3) Epub 2021 Jun 11 doi: 10.1101/mcs.a006085. PMID: 33883208Free PMC Article
Novel ACTG2 variants disclose allelic heterogeneity and bi-allelic inheritance in pediatric chronic intestinal pseudo-obstruction.
Matera I, Bordo D, Di Duca M, Lerone M, Santamaria G, Pongiglione M, Lezo A, Diamanti A, Spagnuolo MI, Pini Prato A, Alberti D, Mattioli G, Gandullia P, Ceccherini I
Clin Genet 2021 Mar;99(3):430-436. Epub 2020 Dec 14 doi: 10.1111/cge.13895. PMID: 33294969
Recurrent ACTG2 gene variation in African degenerative visceral leiomyopathy.
Maluleke T, Mangray H, Arnold M, Moore HA, Moore SW
Pediatr Surg Int 2019 Apr;35(4):439-442. Epub 2018 Nov 15 doi: 10.1007/s00383-018-4367-5. PMID: 30430282
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
Moreno CA, Metze K, Lomazi EA, Bertola DR, Barbosa RH, Cosentino V, Sobreira N, Cavalcanti DP
Am J Med Genet A 2016 Nov;170(11):2965-2974. Epub 2016 Aug 2 doi: 10.1002/ajmg.a.37857. PMID: 27481187Free PMC Article
The role of immunohistochemistry in idiopathic chronic intestinal pseudoobstruction (CIPO): a case-control study.
Amiot A, Cazals-Hatem D, Joly F, Lavergne-Slove A, Peuchmaur M, Bouhnik Y, Bedossa P, Messing B
Am J Surg Pathol 2009 May;33(5):749-58. doi: 10.1097/PAS.0b013e31819b381a. PMID: 19252433

Clinical prediction guides

Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.
Hashmi SK, Ceron RH, Heuckeroth RO
Am J Physiol Gastrointest Liver Physiol 2021 Jun 1;320(6):G919-G935. Epub 2021 Mar 17 doi: 10.1152/ajpgi.00066.2021. PMID: 33729000Free PMC Article
Recurrent ACTG2 gene variation in African degenerative visceral leiomyopathy.
Maluleke T, Mangray H, Arnold M, Moore HA, Moore SW
Pediatr Surg Int 2019 Apr;35(4):439-442. Epub 2018 Nov 15 doi: 10.1007/s00383-018-4367-5. PMID: 30430282
Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes.
Moreno CA, Metze K, Lomazi EA, Bertola DR, Barbosa RH, Cosentino V, Sobreira N, Cavalcanti DP
Am J Med Genet A 2016 Nov;170(11):2965-2974. Epub 2016 Aug 2 doi: 10.1002/ajmg.a.37857. PMID: 27481187Free PMC Article
The role of immunohistochemistry in idiopathic chronic intestinal pseudoobstruction (CIPO): a case-control study.
Amiot A, Cazals-Hatem D, Joly F, Lavergne-Slove A, Peuchmaur M, Bouhnik Y, Bedossa P, Messing B
Am J Surg Pathol 2009 May;33(5):749-58. doi: 10.1097/PAS.0b013e31819b381a. PMID: 19252433
Unusual variations of gastrointestinal smooth muscle abnormalities associated with chronic intestinal pseudo-obstruction.
Moore SW, Schneider JW, Kaschula RO
Pediatr Surg Int 2002 Jan;18(1):13-20. doi: 10.1007/s003830200003. PMID: 11793056

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