Oculopharyngeal Muscular Dystrophy is a rare type of muscular dystrophy with a late adult onset.


Inheritance: autosomal dominant


Genetic locus: 14q11.2-q13


Population affected: French-Canadian


Clinical features:

(1) The onset is during adulthood, typically after 40 years of age.

(2) The patient presents with progressive ptosis (oculo) and dysphagia (pharyngeal).

(3) Mild proximal weakness may occur late.


A muscle biopsy will show rimmed vacuoles.


Differential diagnosis:

(1) inclusion body myositis

(2) myasthenia


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