autosomal dominant progressive external ophthalmoplegia

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autosomal dominant progressive external ophthalmoplegia

An autosomal dominant condition that was once thought to be a distinct clinical entity, which is now recognised as part of the polymerase-gamma (POLG)-related disorder spectrum. AdPEO is characterised by generalised myopathy and variable sensorineural hearing loss, axonal neuropathy, ataxia, depression, Parkinsonism, hypogonadism and cataracts.