Diagnosis of this rare disease requires an awareness of the variable presentation and a careful histological examination of full-thickness sections of bowel. [ncbi.nlm.nih.gov]

Each presented near the age of 30 with massive dilatation of the colon and without clinical evidence of small intestinal involvement. [unboundmedicine.com]

• Arachnodactyly

  […] of Familial visceral myopathy : Megacystis Hydroureter Vesicoureteral reflux Cleft palate Microcephaly Round face Broad forehead Micrognathia Low-set, posteriorly rotated ears Prominent nasal bridge Anteverted nares Narrow chest Hyperparathyroidism Arachnodactyly [familydiagnosis.com]

  Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - High nasal bridge - Hyperparathyroidy - Long hand / arachnodactyly [csbg.cnb.csic.es]

• Turkish

  Facial clefting corpus callosum agenesis * Facial dysmorphism macrocephaly myopia Dandy Walker type… … Wikipedia Mungan Syndrome — Mungan syndrome[1] is first described in 2003 by Mungan Z. et al.[2] as an autosomal recessively inherited disorder in a Turkish [translate.academic.ru]

• Low-Set Posteriorly Rotated Ears

  posteriorly rotated ears Prominent nasal bridge Anteverted nares Narrow chest Hyperparathyroidism Arachnodactyly Joint stiffness Umbilical hernia Anonychia Aganglionic megacolon Abdominal distention ... ... [familydiagnosis.com]

• Long Hands

  hand / arachnodactyly - Low set ears / posteriorly rotated ears - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Narrow rib cage [csbg.cnb.csic.es]

• Pachyonychia

  […] embryonic failure in development or from exogenous factors such as poison, trauma, or disease. adjustmen … Medical dictionary List of diseases (P) — A list of diseases in the English Wikipedia.DiseasesTOC PaPac Pal* Pachydermoperiostosis * Pachygyria * Pachyonychia [translate.academic.ru]

• Cutaneous Manifestation

  Some of these disorders such as lupus erythematosus, dermatomyositic, scleroderma, and vasculitis are defined by their cutaneous manifestations. As investigation increases our under... [wwe.geoscience.net]

• Round Face

  Back to: « Visceral myopathy Symptoms List: Familial visceral myopathy Symptoms and clinical features may include: 2 Clinical Features of Familial visceral myopathy : Megacystis Hydroureter Vesicoureteral reflux Cleft palate Microcephaly Round face Broad [familydiagnosis.com]

  face - Short bowel - Situs inversus visceralis / colon / intestine trasposition / heterotaxia - Umbilical hernia [csbg.cnb.csic.es]

• Cleft Lip and-or Palate

  lip / submucosal cleft palate / bifid uvula - Congenital cardiac anomaly / malformation / cardiopathy - Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease - High nasal bridge - Hyperparathyroidy - Long hand / arachnodactyly - Low set [csbg.cnb.csic.es]

• Dystonia

  A missense variant (R183W) in non-muscle actin (ACTB, β-actin) has been linked to a combination of malformations, sensory hearing loss, and delayed-onset generalized dystonia. [agajournals.wordpress.com]

• Incomplete Bladder Emptying

  Four patients had urinary tract involvement with dilatation of the ureters and/or incomplete bladder emptying. [ncbi.nlm.nih.gov]

Provides all the necessary tools to make a comprehensive diagnostic workup including data from ancillary techniques and molecular findings whenever appropriate. [books.google.com]

Medical treatments can provide supportive measures but no curative treatment. [ncbi.nlm.nih.gov]

Medical treatments can provide supportive measures but no curative treatment. Affiliation Journal Details This article was published in the following journal. [bioportfolio.com]

Surgical treatment in familial visceral myopathy. Ann Surg 1979; 198:306–310. 2009 Lippincott Williams & Wilkins, Inc. [journals.lww.com]

The extensive involvement of small and large bowel in at least two family members is unusual in the autosomal dominant form of the disease, but their course has so far been favorable, lending further evidence to the impression that prognosis is good. [ncbi.nlm.nih.gov]

Prognosis - Familial visceral myopathy Not supplied. Treatment - Familial visceral myopathy Not supplied. Resources - Familial visceral myopathy Not supplied. [checkorphan.org]

Our family's history supports the impression that the dominant form of the disease usually has a good prognosis, although in fact it can he very variable, even in members of the same family. [docslide.com.br]

Prognosis for hollow visceral myopathy is poorer in the neonatal period than in childhood or adulthood. 7 Gastrointestinal involvement seems to be the limiting factor in prognosis of such children as parentral nutrition with its associated complications [jpma.org.pk]

Kaschula ] - Department of Pathology, Red Cross Childrens Hospital, University of Cape Town, Rondebosch, South Africa, South Africa خلاصه مقاله: â ‚Degenerative leiomyopathy (DL) is a distinctive form of acquired degenerative visceral myopathy of uncertain etiology [scipers.com]

[…] intestinal obstruction without mechanical obstruction Usually a small bowel disorder but can occur anywhere in GI tract Ogilvie's syndrome (acute colonic pseudo-obstruction): abrupt onset of abdominal distension ( Radiol Med (Torino) 2005;109:370 ) Etiology [pathologyoutlines.com]

Visceral myopathy is rare pathological condition of gastrointestinal tract with uncertain clinical presentation and unknown etiology. It often presents with symptoms of chronic intestinal pseudoobstruction of colon. [hindawi.com]

The second major group of CIPO etiologies includes visceral myopathies ( Table III ). [scielo.isciii.es]

The etiology of POLIP/MNGIE syndrome appears therefore to be due to a mitochondrial cytopathy secondary to thymidine phosphorylase gene mutation(s). [em-consulte.com]

Familial hollow visceral myopathy - Hereditary hollow visceral myopathy - Megaduodenum and/or megacystis Classification (Orphanet): - Rare gastroenterologic disease - Rare genetic disease Classification (ICD10): - Diseases of the digestive system - Epidemiological [csbg.cnb.csic.es]

This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept. [bioportfolio.com]

These investigators provided an overview of the current knowledge about epidemiology, clinical features, and pathophysiology of IMNM, as well as treatment strategies. [aetna.com]

However, the understanding of pathophysiological mechanisms and treatment strategies still requires further investigation. [aetna.com]

Motility Investigations These studies are performed in order to assess the GI motility and to define the underlying pathophysiologic process; in pediatrics they form the hallmark of diagnosis. [abdominalkey.com]

We then used the X-ray crystal structure of the chicken ACTG2 (PDB ID: P63270) to further predict the pathophysiological significance of the variant at a protein level. [nature.com]

[…] symptoms * Urinary retention * Vomiting * Constipation * Diarrhea * Abdominal pain * Dilated ureter * Reduced abdominal muscles Causes - Familial visceral myopathy * Abdominal pain * Asymptomatic * Constipation * Diarrhea * Urinary retention * Vomiting Prevention [checkorphan.org]

TPN format is typically changed depending on loss/gain of weight and bloodwork results, and is specially formulated to meet each individual patient's needs. [14] Use of octreotide has been described. [15] [16] Cannabis has long been known to limit or prevent [en.wikipedia.org]

The renal prognosis is generally good, provided that careful, active evaluation and management of the poorly dynamic bladder are performed to ensure adequate bladder emptying and to prevent urinary tract infection [ 187 ]. [abdominalkey.com]

Lack of signal in the sample prevented a mitochondrial DNA study from being performed. The patient was again admitted two months later because of pain after food ingestion, which was relieved by cisapride. [scielo.isciii.es]

In a pilot study, these researchers studied the causes of statin-induced muscle side effects in patients in an attempt to identify biological markers useful to prevent and counteract statin-induced muscle damage. [aetna.com]