A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare.

Synonyms: Oculopharyngeal distal myopathy OPDM

This is just here as a test because I lose it

Term information

database cross reference
hasDbXref

ICD-10:G71.0
OMIM:164310
UMLS:C1834014

notation

ORPHA:98897