Adult‑onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Også kjent som: Adult-onset CPEO with mitochondrial myopathy
Engelsk navn: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Engelske synonym: Adult-onset CPEO with mitochondrial myopathy


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.



Informasjon

Norsk nevromuskulært kompetansesamarbeid har kunnskap om diagnosen.

ORPHA: 329336
Klassifiseringsnivå: Disorder
ICD-10: G71.3



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