Oculopharyngodistal myopathy

Orpha code: 98897OMIM code: 618940

Definicja

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.

Disease data
Klasyfikacja

Disease

Synonimy
OPDM
Miopatia oczno-gardłowa dystalna
OPDM
Oculopharyngeal distal myopathy
Kod ORPHA
98897
Kod OMIM
618940
Kod ICD10
G71.0
Kod ICD11
-

No additional description.

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