Catalog

Progressive external ophthalmoplegia, autosomal recessive

No MMS code

Link to WHO Definition

Progressive external ophthalmoplegia, autosomal recessive – http://id.who.int/icd/entity/1440469708

Autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions is caused by homozygous or compound heterozygous mutation in the nuclear-encoded DNA polymerase-gamma gene (POLG; 174763) on chromosome 15q25, or by homozygous or compound heterozygous mutation in the RNASEH1 gene (604123) on chromosome 2p25. Recessive mutation in the POLG gene can also cause sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO; 607459), which shows overlapping features. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Autosomal recessive inheritance is usually more severe than dominant.