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progressive external ophthalmoplegia, autosomal dominant 1 (PEOA1)

Progressive external ophthalmoplegia of these types is often associated with widespread neurological and muscle manifestations.  The ophthalmoplegia is adult in onset and frequently combined with exercise intolerance.  Significant lens opacities may be seen in early childhood but may also not cause vision problems until early adulthood. Progressive ptosis is often an early and disabling sign.

Systemic Features
Facial muscles can be weak, generally in older individuals.  Some patients complain of dysphagia.  Sensoirneural hearing loss, dysarthria, and dysphonia are often associated.  Neurological symptoms include ataxia, sensory neuropathy, tremors, depression and symptoms of parkinsonism but these are variable.   Some patients experience rhabdomyolysis following alcohol consumption.  Dilated cardiomyopathy can be a part of the autosomal recessive form of this disease.

A possible subcategory of this disease is associated with hypogonadism evidenced by delayed sexual maturation, primary amenorrhea, early menopause and testicular atrophy.  Other features as described above may be associated.  Muscle biopsy shows ragged-red fibers with multiple mitochondrial deletions.

OTHER NAME(S): progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1

ABREVIATION(S):
PEOA1

TYPE: neurodegenerative disease, eye or vision problem

Related patway(s): DNA replication

DNAtraffic protein(s) related to disease: POLγ (POLG)

OMIM: 157640

Last modification date: July 30, 2011