scholarly journals Familial visceral myopathy

2020 ◽  
Author(s):  
Keyword(s):  
Visceral Myopathy

scholarly journals ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation

2018 ◽  
Vol 27 (1) ◽  
pp. 77-83 ◽  
Author(s):  
Rebecca R. J. Collins ◽  
Bradley Barth ◽  
Stephen Megison ◽  
Cory M. Pfeifer ◽  
Luke M. Rice ◽  
...  
Keyword(s):  
Choledochal Cyst ◽  
Pyloric Stenosis ◽  
Late Onset ◽  
Smooth Muscle Actin ◽  
Hypertrophic Pyloric Stenosis ◽  
Pathogenic Mutation ◽  
Intestinal Malrotation ◽  
Intestinal Pseudoobstruction ◽  
Chronic Intestinal Pseudoobstruction ◽  
Visceral Myopathy

Primary visceral myopathy caused by a pathogenic mutation in the gene encoding the enteric smooth muscle actin gamma 2 ( ACTG2) affects gastrointestinal and genitourinary tracts and often presents as chronic intestinal pseudoobstruction. We present a case of pediatric onset chronic intestinal pseudoobstruction associated with a novel missense ACTG2 mutation c.439G>T/p.G147C. In addition to the known disease manifestations of feeding intolerance and intestinal malrotation, our patient had a late-onset hypertrophic pyloric stenosis and a late-onset choledochal cyst, the former of which has not previously been described in patients with ACTG2-associated visceral myopathy.

Visceral Myopathy: Clinical syndromes, genetics, pathophysiology, and Fall of the Cytoskeleton

2021 ◽  
Author(s):  
Sohaib Khalid Hashmi ◽  
Rachel Helen Ceron ◽  
Robert O Heuckeroth
Keyword(s):  
Smooth Muscle ◽  
Tissue Level ◽  
Cytoskeletal Proteins ◽  
Bladder Emptying ◽  
Visceral Myopathy ◽  
Crucial Component ◽  
Associated Proteins ◽  
Intestinal Pseudo Obstruction ◽  
Visceral Smooth Muscle ◽  
Contraction And Relaxation

Visceral smooth muscle is a crucial component of the walls of hollow organs like the gut, bladder, and uterus. This specialized smooth muscle has unique properties that distinguish it from other muscle types and that facilitate robust dilation and contraction. Visceral myopathies are diseases where severe visceral smooth muscle dysfunction prevents efficient movement of air and nutrients though the bowel, impairs bladder emptying, and affects normal uterine contraction and relaxation, particularly during pregnancy. Disease severity exists along a spectrum. The most debilitating defects cause highly dysfunctional bowel, reduced intrauterine colon growth (microcolon), and bladder emptying defects requiring catheterization, a condition called Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS). People with MMIHS often die early in childhood. When the bowel is the main organ affected and microcolon is absent, the condition is known as myopathic chronic intestinal pseudo-obstruction (CIPO). Visceral myopathies like MMIHS and myopathic CIPO are most commonly caused by mutations in contractile apparatus cytoskeletal proteins. Here, we review visceral myopathy-causing mutations and normal functions of these disease-associated proteins. We propose molecular, cellular, and tissue-level models that may explain clinical and histopathological features of visceral myopathy and hope these observations prompt new mechanistic studies.

Non-familial Visceral Myopathy: An Atypical Presentation Mimicking Crohnʼs Disease

2015 ◽  
Vol 110 ◽  
pp. S168
Author(s):  
Celeste P. Pizza ◽  
Kasra Adham ◽  
Douglas J. Grider ◽  
Alan Brijbassie
Keyword(s):  
Atypical Presentation ◽  
Visceral Myopathy

scholarly journals Surgical management of megaduodenum in symptomatic familial visceral myopathy

1978 ◽  
Vol 74 (5) ◽  
pp. 1003 ◽  
Author(s):  
S. Anuras ◽  
D.L. Faulk ◽  
S. Shirazi ◽  
R.W. Summers ◽  
J. Christensen
Keyword(s):  
Surgical Management ◽  
Visceral Myopathy

scholarly journals Megaduodenum due to hollow visceral myopathy successfully managed by duodenoplasty and feeding jejunostomy.

Gut ◽  
1991 ◽  
Vol 32 (3) ◽  
pp. 334-337 ◽  
Author(s):  
P I Mansell ◽  
R B Tattersall ◽  
M Balsitis ◽  
J Lowe ◽  
R C Spiller
Keyword(s):  
Feeding Jejunostomy ◽  
Visceral Myopathy

scholarly journals Myofibroblasts in hollow visceral myopathy: the origin of gastrointestinal fibrosis?

Gut ◽  
1993 ◽  
Vol 34 (7) ◽  
pp. 999-1001 ◽  
Author(s):  
J E Martin ◽  
M Benson ◽  
M Swash ◽  
V Salih ◽  
A Gray
Keyword(s):  
Visceral Myopathy

Massive gastrointestinal dilatation in a case of hereditary hollow visceral myopathy

2013 ◽  
Vol 45 (10) ◽  
pp. 866
Author(s):  
Robert J. Huang ◽  
Chohee Yun ◽  
Linda Nguyen
Keyword(s):  
Visceral Myopathy

Familial visceral myopathy

1992 ◽  
Vol 37 (3) ◽  
pp. 464-469 ◽  
Author(s):  
S. C. Jones ◽  
M. F. Dixon ◽  
D. J. Lintott ◽  
A. T. R. Axon
Keyword(s):  
Visceral Myopathy

A very rare cause of intestinal pseudoobstruction: familial visceral myopathy type IV

2000 ◽  
Vol 89 (6) ◽  
pp. 733-736 ◽  
Author(s):  
A Kansu ◽  
A Ensari ◽  
AG Kalayci ◽  
N Girgin
Keyword(s):  
Intestinal Pseudoobstruction ◽  
Type Iv ◽  
Visceral Myopathy
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