Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
ORPHA:329336· ICD-10 G71.3
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.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Mitochondrial inheritance
- Age of onset
- Adult