Oculopharyngodistal myopathy

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Synonyms: 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Oculopharyngodistal myopathy?

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Advocacy Organizations

Association Aux Pas du Coeur – Côte d’ivoire

Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession to be able to make a final diagnosis and ensure continuous monitoring of patients easily.

Girls Chronically Rock

Girls Chronically Rock is a fashion brand for the disability community. The word "chronic" in its name is a reference to people living with chronic illnesses. The fashion line is a collection of apparel items for people living with disability with clothing specially designed for men and women. The company's mission is to create, motivate, encourage, inspire, and let people know that you rock and

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Clinical Trials

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