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Oculogastrointestinal muscular dystrophy

MedGen UID:
336376
Concept ID:
C1848586
Disease or Syndrome
Synonyms: Intestinal pseudoobstruction with external ophthalmoplegia; Visceral myopathy familial with external ophthalmoplegia
SNOMED CT: Oculogastrointestinal muscular dystrophy (722060007); Visceral myopathy with familial external ophthalmoplegia syndrome (722060007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Monarch Initiative: MONDO:0010181
OMIM®: 277320
Orphanet: ORPHA1876

Definition

An extremely rare autosomal recessively inherited neuromuscular disease characterised by ocular manifestations such as ptosis and diplopia followed by chronic diarrhoea, malnutrition and intestinal pseudo-obstruction. [from SNOMEDCT_US]

Clinical features

From HPO
Abdominal pain
MedGen UID:
7803
Concept ID:
C0000737
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.
Vascular dilatation
MedGen UID:
8076
Concept ID:
C0002940
Pathologic Function
Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart.
Abdominal distention
MedGen UID:
34
Concept ID:
C0000731
Finding
Distention of the abdomen.
Gastroparesis
MedGen UID:
101809
Concept ID:
C0152020
Disease or Syndrome
Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction.
Malnutrition
MedGen UID:
56429
Concept ID:
C0162429
Disease or Syndrome
A deficiency in the intake of energy and nutrients.
Boerhaave syndrome
MedGen UID:
65948
Concept ID:
C0238115
Disease or Syndrome
The occurrence of the full-thickness tear (perforation) of the wall of the esophagus.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Ophthalmoplegia
MedGen UID:
45205
Concept ID:
C0029089
Sign or Symptom
Paralysis of one or more extraocular muscles that are responsible for eye movements.
External ophthalmoplegia
MedGen UID:
57662
Concept ID:
C0162292
Disease or Syndrome
Paralysis of the external ocular muscles.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOculogastrointestinal muscular dystrophy
Follow this link to review classifications for Oculogastrointestinal muscular dystrophy in Orphanet.

Professional guidelines

PubMed

Halter J, Schüpbach W, Casali C, Elhasid R, Fay K, Hammans S, Illa I, Kappeler L, Krähenbühl S, Lehmann T, Mandel H, Marti R, Mattle H, Orchard K, Savage D, Sue CM, Valcarcel D, Gratwohl A, Hirano M
Bone Marrow Transplant 2011 Mar;46(3):330-337. Epub 2010 May 3 doi: 10.1038/bmt.2010.100. PMID: 20436523Free PMC Article
Scarpelli M, Cotelli MS, Mancuso M, Tomelleri G, Tonin P, Baronchelli C, Vielmi V, Gregorelli V, Todeschini A, Padovani A, Filosto M
Recent Pat CNS Drug Discov 2010 Nov;5(3):203-9. doi: 10.2174/157488910793362412. PMID: 20722626

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