adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy is 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.
MONDO:0009637
inborn mitochondrial myopathy
is_a
MONDO:0016387
mitochondrial oxidative phosphorylation disorder
is_a
adult-onset CPEO with mitochondrial myopathy
exact
SPBC336.06c