Oculopharyngeal muscular dystrophy

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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 a soleus and adductor magnus .

Pathology

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