Preferred Label : Oculopharyngodistal myopathy;
ICD-11 definition : Oculopharyngodistal myopathy (OPDM) is an extremely rare, adult-onset hereditary muscular
disease characterized by progressive external ocular, pharyngeal, and distal muscle
weakness and myopathological rimmed vacuole changes. The causative gene is currently
unknown; therefore, diagnosis of OPDM is based on clinical and histopathological features
and genetic exclusion of similar conditions. Moreover, variable manifestations of
this disorder are reported in terms of muscle involvement and severity.;
ICD-11 synonym : oculopharygodistal myopathy; OPDM - [oculopharygodistal myopathy];
ICD-11 acronym : OPDM;
Origin ID : 1493269618;
Currated CISMeF NLP mapping
- Validated automatic mappings to BTNT
Oculopharyngodistal myopathy (OPDM) is an extremely rare, adult-onset hereditary muscular
disease characterized by progressive external ocular, pharyngeal, and distal muscle
weakness and myopathological rimmed vacuole changes. The causative gene is currently
unknown; therefore, diagnosis of OPDM is based on clinical and histopathological features
and genetic exclusion of similar conditions. Moreover, variable manifestations of
this disorder are reported in terms of muscle involvement and severity.
