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
(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.
(1) inclusion body myositis
To read more or access our algorithms and calculators, please log in or register.