Oculopharyngeal dystrophy: clinicopathological study of an Australian family

A family is presented in which 12 members over 3 generations have been affected by oculopharyngeal dystrophy. The clinical features of 7 affected members are described. All developed ptosis in middle age and dysphagia later in the clinical course. Four had mild bilateral facial weakness and mild proximal weakness. Extra-ocular movements were normal in all. A deltoid muscle biopsy from a 71-year-old affected male showed nonspecific myopathic features (random variation in muscle fibre size and atrophy of type 2A and 2B fibres). The skeletal muscles and striated musculature of the pharynx and upper oesophagus of a 75-year-old affected female examined at postmortem showed histological myopathic changes (loss of muscle fibres, variation in size of fibres with scattered small angular and rounded 'giant' muscle fibres, proliferation and central migration of sarcolemmal nuclei, increase in fat and fibrous tissue and occasional fibres undergoing segmental degeneration). This appearance was consistent with a muscular dystrophy of chronic type. Detailed neuropathological examination of the brain stem nuclei was normal. The spinal cord showed an unusual hydromyelia affecting C7 to T4 segments.