Visceral Myopathy; Vscm

Description

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 (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 Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

Clinical Features

Top most frequent phenotypes and symptoms related to Visceral Myopathy; Vscm

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain
  • Cryptorchidism
  • Hypertension
  • Peripheral neuropathy
  • Fever
  • Skeletal muscle atrophy

And another 60 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Visceral Myopathy; Vscm Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome, infantile visceral myopathy, mmih, megaduodenum and/or megacystis, pseudoobstruction, idiopathic intestinal, berdon syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Visceral Myopathy; Vscm Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Visceral Myopathy (ACTG2).

By Center for Human Genetics, Inc (United States).

ACTG2
Specificity
100 %
Genes
100 %
Intestinal Pseudo-Obstruction (ACTG2).

By Center for Human Genetics, Inc (United States).

ACTG2
Specificity
100 %
Genes
100 %
ACTG2 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ACTG2
Specificity
100 %
Genes
100 %
Centronuclear visceral (sequence analysis of ACTG2 gene).

By CGC Genetics (Portugal).

ACTG2
Specificity
100 %
Genes
100 %
ACTG2.

By MGZ Medical Genetics Center (Germany).

ACTG2
Specificity
100 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Mitochondrial Diseases.

By MGZ Medical Genetics Center (Germany).

BCS1L, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC19A2, SLC22A5, SLC25A12, SLC25A3, SLC25A4, SLC6A8, SPG7, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TIMM8A , (...)

View the complete list with 148 more genes
Specificity
1 %
Genes
100 %
Visceral myopathy.

By Centogene AG - the Rare Disease Company (Germany).

ACTG2
Specificity
100 %
Genes
100 %

We have 5 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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