Oculopharyngeal muscular dystrophy

Last revised by David Luong on 27 Jul 2021

Oculopharyngeal muscular dystrophy is rare form of muscular dystrophy characterized by ptosis and swallowing difficulties due to selective involvement of the muscles of the eyelid and pharynx. It can also affect other muscles such as the soleus and adductor magnus 1.


It is thought to be caused by an abnormal expansion of GCN triplets within the PABPN1 gene.

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