Progressive external ophthalmoplegia (PEO) is a progressive weakness of the external muscles of the eye resulting in blepharoptosis and ophthalmoparesis. Often other muscles are involved resulting in dysphagia and a variable neck and limb muscle weakness. Most sporadic PEO cases have an acquired genetic disease with a heteroplasmic large deletion of mitochondrial DNA (mtDNA) in muscle. In familial PEO, several modes of inheritance occur. Patients may have a nuclear gene defect that predisposes to the accumulation of mtDNA deletions. Recently, mutations in such nuclear genes have been discovered. Some mutations are dominant (PEOA) and others recessive.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Strabismus or ocular motility disorders
9C82 Disorders of extraocular muscles
H01118 Progressive external ophthalmoplegia
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06509 DNA replication
H01118 Progressive external ophthalmoplegia
nt06504 Base excision repair
H01118 Progressive external ophthalmoplegia
Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.
Ronchi D, Di Fonzo A, Lin W, Bordoni A, Liu C, Fassone E, Pagliarani S, Rizzuti M, Zheng L, Filosto M, Ferro MT, Ranieri M, Magri F, Peverelli L, Li H, Yuan YC, Corti S, Sciacco M, Moggio M, Bresolin N, Shen B, Comi GP
Title
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability.
