P.63Chronic progressive external ophthalmoplegia (CPEO) and CPEO-plus cohort of 54 patients from the Netherlands

Chronic progressive ophthalmoplegia (CPEO) is a mitochondrial disease. It is part of a spectrum of mitochondrial DNA deletion disorders. In CPEO, by definition, the eye muscles are affected, causing eye movement deficits and ptosis. Phenotypes with further neurologic involvement are often described as CPEO-plus. Other phenotypes within the spectrum are well defined, such as Sensory Ataxia, Neuropathy, Dysarthria and Ophthalmoplegia (SANDO)-syndrome or Kearns-Sayre syndrome. In the future, well defined diagnostic criteria are essential for clinical trials.

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: R. Schoenaker, E. Kamsteeg, R. Rodenburg, B. Van Engelen, M. Jansen, C. Saris Source Type: research