Catalog

Progressive external ophthalmoplegia, autosomal dominant

No MMS code

Link to WHO Definition

Progressive external ophthalmoplegia, autosomal dominant – http://id.who.int/icd/entity/739314501

Progressive external ophthalmoplegia is characterised by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe.