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
