Orphanet: Ophtalmoplegie externe progressive chronique de l adulte avec myopathie mitochondriale

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Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Disease definition

A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases.

ORPHA:329336

Classification level: Disorder

Synonym(s):
- Adult-onset CPEO with mitochondrial myopathy
Prevalence: Unknown
Inheritance: Autosomal dominant or Mitochondrial inheritance
Age of onset: Adult
ICD-10: G71.3
OMIM: 616479
UMLS: -
MeSH: -
GARD: -
MedDRA: -

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Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

ORPHA:329336

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