Details of Disease | DrugMAP

General Information of Disease (ID: DISGCD9O)

Disease Name	Oculopharyngodistal myopathy
Synonyms	faciooculolaryngopharyngeal myopathy with distal and respiratory involvement; oculopharyngodistal myopathy; oculopharyngeal distal myopathy; OPDM
Definition	Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown.
Disease Hierarchy	DIS7F5R0: Distal myopathy DISV66YX: Progressive muscular dystrophy DISGCD9O: Oculopharyngodistal myopathy
Disease Identifiers	MONDO ID MONDO_0025193 MESH ID C563508 UMLS CUI C1834014 MedGen ID 320250 Orphanet ID 98897 SNOMED CT ID 763829004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MYH2	TTBIL13	moderate	Biomarker	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GIPC1	OTXLVCPJ	Supportive	Autosomal dominant	[2]
PABPN1	OT3MC5SE	Definitive	Genetic Variation	[3]
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References

1	Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.Clin Genet. 2015 Dec;88(6):573-8. doi: 10.1111/cge.12552. Epub 2015 Jan 20.
2	5' UTR CGG repeat expansion in GIPC1 is associated with oculopharyngodistal myopathy. Brain. 2021 Mar 3;144(2):601-614. doi: 10.1093/brain/awaa426.
3	Autosomal recessive oculopharyngodistal myopathy: a distinct phenotypical, histological, and genetic entity.J Neurol Neurosurg Psychiatry. 2004 Oct;75(10):1499-501. doi: 10.1136/jnnp.2003.025072.