Progressive External OphthalmoplegiaSymptoms, Doctors, Treatments, Advances & More
Learn About Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time. The first sign of progressive external ophthalmoplegia is typically drooping eyelids (ptosis), which can affect one or both eyelids. As ptosis worsens, affected individuals may use the forehead muscles to try to lift the eyelids, or they may lift up their chin in order to see. Another characteristic feature of progressive external ophthalmoplegia is weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals have to turn their head to see in different directions, especially as the ophthalmoplegia worsens. People with progressive external ophthalmoplegia may also have general weakness of the muscles used for movement (myopathy), particularly those in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia).
Progressive external ophthalmoplegia is a condition caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA or mtDNA. This DNA contains genes essential for oxidative phosphorylation.
The prevalence of progressive external ophthalmoplegia is unknown.
Progressive external ophthalmoplegia can have different inheritance patterns depending on the gene involved.
MN - Neuro
Margherita Milone is a Neurologist practicing medicine in Rochester, Minnesota. Dr. Milone is rated as an Elite provider by MediFind in the treatment of Progressive External Ophthalmoplegia. She is also highly rated in 36 other conditions, according to our data. Her clinical expertise encompasses Necrotizing Myopathy (NM), Progressive External Ophthalmoplegia, Nemaline Myopathy, and Tubular Aggregate Myopathy. Dr. Milone is board certified in MN State Medical License 2003-2023.
Truhlsen Eye Institute
Richard Legge is an Ophthalmologist practicing medicine in Omaha, Nebraska. He has been practicing medicine for over 40 years. Dr. Legge is rated as a Distinguished provider by MediFind in the treatment of Progressive External Ophthalmoplegia. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Optic Neuritis, Strabismus, Choroideremia, and Horizontal Gaze Palsy with Progressive Scoliosis.
CVS Pharmacy
Robert Taylor is a primary care provider, practicing in Internal Medicine in Mattapan, Massachusetts. Dr. Taylor is rated as an Elite provider by MediFind in the treatment of Progressive External Ophthalmoplegia. He is also highly rated in 41 other conditions, according to our data. His clinical expertise encompasses Progressive External Ophthalmoplegia, MELAS Syndrome, Lactic Acidosis, Cytochrome C Oxidase Deficiency, and Tissue Biopsy.
Summary: The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.
Summary: Mitochondrial diseases are a genetically diverse group of disorders, some of which are caused by mutations or deletions in the mitochondrial DNA (mtDNA) and which display a wide range of severity and phenotypes. Despite a prevalence of roughly 1 in 8500 in the population there is no effective treatments for the majority of mitochondrial diseases beyond supportive care (Gorman 2016, Elliott 2008). ...
Published Date: May 01, 2016
Published By: National Institutes of Health