Oculopharyngodistal myopathy

Engelsk navn: Oculopharyngodistal myopathy
Engelske synonym: OPDM,Oculopharyngeal distal myopathy


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.

Fra Orphanet

ORPHA: 98897
Klassifiseringsnivå: Disorder
ICD-10: G71.0

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