loading...| Preferred Name |
oculopharyngodistal myopathy |
| Synonyms |
oculopharyngodistal myopathy OPDM faciooculolaryngopharyngeal myopathy with distal and respiratory involvement oculopharyngeal distal myopathy |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0025193 |
| database_cross_reference |
SCTID:763829004 MESH:C563508 OMIMPS:164310 GARD:0012592 Orphanet:98897 DOID:0081296 UMLS:C1834014 |
| 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. |
| exactMatch |
http://identifiers.org/mesh/C563508 http://purl.obolibrary.org/obo/Orphanet_98897 https://omim.org/phenotypicSeries/PS164310 http://purl.obolibrary.org/obo/DOID_0081296 |
| has_exact_synonym |
oculopharyngodistal myopathy OPDM oculopharyngeal distal myopathy |
| has_related_synonym |
faciooculolaryngopharyngeal myopathy with distal and respiratory involvement |
| id |
MONDO:0025193 |
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#ordo_inheritance_inconsistent |
| label |
oculopharyngodistal myopathy |
| notation |
MONDO:0025193 |
| prefLabel |
oculopharyngodistal myopathy |
| seeAlso |
https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy |
| treeView |
http://purl.obolibrary.org/obo/MONDO_0016106 |
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0016106 |