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Oculogastrointestinal muscular dystrophy

General Information (adopted from Orphanet):

Synonyms, Signs:	INTESTINAL PSEUDOOBSTRUCTION WITH EXTERNAL OPHTHALMOPLEGIA MUSCULAR DYSTROPHY, OCULOGASTROINTESTINAL Visceral myopathy - familial external ophthalmoplegia
Number of Symptoms	29
OrphanetNr:	1876
OMIM Id:	277320
ICD-10:	G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence:	1 family [Orphanet]
Inheritance:	Autosomal recessive [Orphanet]
Age of onset:	Childhood [Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases:

Congenital intestinal motility disorder
-Rare gastroenterologic disease
-Rare genetic disease
Ptosis
-Rare eye disease
-Rare genetic disease

Symptom Information: Sort by abundance

	Symptom Information	Symptom	Abundance	DB Freq
1	(HPO:0000508)	Ptosis	Very frequent [Orphanet]	459 / 7739
2	(HPO:0000544)	External ophthalmoplegia		40 / 7739
3	(HPO:0000602)	Ophthalmoplegia		56 / 7739
4	(HPO:0000597)	Ophthalmoparesis	Very frequent [Orphanet]	71 / 7739
5	(HPO:0009830)	Peripheral neuropathy		206 / 7739
6	(HPO:0005203)	Spontaneous esophageal perforation		2 / 7739
7	(HPO:0002250)	Abnormality of the large intestine	Very frequent [Orphanet]	32 / 7739
8	(HPO:0003270)	Abdominal distention		46 / 7739
9	(HPO:0004395)	Malnutrition		12 / 7739
10	(HPO:0002578)	Gastroparesis		11 / 7739
11	(HPO:0002592)	Gastric ulcer	Very frequent [Orphanet]	39 / 7739
12	(HPO:0002027)	Abdominal pain		184 / 7739
13	(HPO:0002024)	Malabsorption	Very frequent [Orphanet]	142 / 7739
14	(HPO:0004326)	Cachexia	Very frequent [Orphanet]	71 / 7739
15	(HPO:0001633)	Abnormality of the mitral valve	Occasional [Orphanet]	69 / 7739
16	(HPO:0001939)	Abnormality of metabolism/homeostasis		328 / 7739
17	(HPO:0003198)	Myopathy	Very frequent [Orphanet]	151 / 7739
18	(HPO:0003202)	Skeletal muscle atrophy	Very frequent [Orphanet]	281 / 7739
19	(OMIM)	Severe primary myopathy of the smooth muscles of the stomach and intestine with intact myenteric plexuses and vagus nerves		1 / 7739
20	(OMIM)	Progressive intestinal pseudoobstruction		1 / 7739
21	(OMIM)	Jejunal fibrosis and degeneration		1 / 7739
22	(OMIM)	Demyelinating and axonal neuropathy and focal spongiform degeneration of the posterior columns		1 / 7739
23	(OMIM)	Myopathic skeletal muscle changes		1 / 7739
24	(HPO:0000007)	Autosomal recessive inheritance		2538 / 7739
25	(OMIM)	Multiple diverticula		1 / 7739
26	(OMIM)	Poor esophageal motility		1 / 7739
27	(MedDRA:10017753)	Gastric atony		1 / 7739
28	(OMIM)	Diffuse abdominal pain		1 / 7739
29	(OMIM)	Small bowel dilatation		1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol	Variation	Clinical significance	Reference

Additional Information:

Clinical Description OMIM

Ionasescu (1983) and Anuras et al. (1983) described a 'new' disorder in 1 male and 3 females in 3 sibships of an inbred kindred of German extraction. The disorder was characterized by ptosis, ophthalmoplegia, and progressive intestinal pseudoobstruction ... Ionasescu (1983) and Anuras et al. (1983) described a 'new' disorder in 1 male and 3 females in 3 sibships of an inbred kindred of German extraction. The disorder was characterized by ptosis, ophthalmoplegia, and progressive intestinal pseudoobstruction leading to malnutrition and death before age 30 years. Autopsy in 2 cases showed severe primary myopathy of the smooth muscles of the stomach and intestine with intact myenteric plexuses and vagus nerves. The proposita had myopathic changes in skeletal muscles but also involvement of the peripheral nerves and central nervous system characterized by demyelinating and axonal neuropathy and focal spongiform degeneration of the posterior columns. In a previously published abstract, Ionasescu et al. (1981) stated that the father of the proposita had ptosis and died of spontaneous rupture of the esophagus. He had a brother who clearly was affected; if the information is correct and he was indeed affected, this may be an example of pseudodominance. The pedigree is otherwise strongly indicative of autosomal recessive inheritance because 2 of the 3 affected sibships had consanguineous parents. Anuras et al. (1983) described the 3 patients who were products of consanguineous marriages. They had gastric atony, dilatation of the entire small bowel, and multiple diverticula throughout. The jejunum showed fibrosis and degeneration, mainly of the longitudinal muscle layer. Two of the 3 patients also had ptosis and external ophthalmoplegia. There was a suggestion that asymptomatic heterozygotes may be identified by abnormalities on jejunal manometry. Ionasescu et al. (1984) described a second family in which 3 sisters with unaffected, nonconsanguineous parents seemed to have the same disorder, which, however, had its onset at about age 50 and pursued a mild course. Ptosis, chronic diarrhea, abdominal distention, and diffuse abdominal pains were the manifestations. Motility of the lower esophagus was impaired. The duodenum and jejunum were dilated with jejunal diverticulosis. Mild to moderate proximal muscle weakness and atrophy correlated with histologic changes. Since the parents were dead, it may be impossible to be certain that one of them was not affected. This disorder has similarities to oculopharyngeal muscular dystrophy (164300), of which an autosomal recessive form has been suggested. Alstead et al. (1988) observed 11 cases of autonomic visceral myopathy with degeneration of the muscularis mucosae in 3 separate sibships of an inbred kindred from Iraq. Patients presented with recurrent intestinal obstruction in childhood or adolescence; 8 of the 11 died before the age of 30. Jatzko et al. (1997) described visceral myopathy with associated chylous ascites in a 66-year-old woman and her 67-year-old brother. Jatzko et al. (1997) speculated that the patients may have had constriction or destruction of the intramuscular lymphatic vessels in the intestinal wall, leading to an increase of pressure and linkage, resulting in chylous ascites and chylous pleural effusion. The male patient had a 20-year-old daughter who was diagnosed sonographically to have asymptomatic ascites. Thus, this may be an autosomal dominant form of this disorder; see 155310.

Symptoms & Signs

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