Progressive oculomotor paralysis that starts with the external muscless before the internal muscles become involved. Cardinal symptoms are progressive, bilateral ptosis and dysphagia. Occasionally associated with weakness of facial, extraocular, and limb-girdle muscles. Dysphagia precedes the ptosis by an interval of a month or years. All patients share a common ethnic background (six pedigrees of hereditary oculophraryngeal syndrome families have been reported). A few sporadic cases also reported. Equal sex distribution; onset from infancy to fifth decade; insidious onset and slow progression.
First described as progressive ophthalmoplegia in a demonstration before the Berlin medizinische Gesellschaft on september 2, 1966.
- A. F. W. E. von Graefe:
Demonstration in der Berliner medizinische Gesellschaft vom 2.9.1866.
Berliner klinische Wochenschrift, 1868, 5: 127.