8C73.0 Autosomal recessive cardiomyopathy or ophthalmoplegia
International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01
Autosomal recessive cardiomyopathy and ophthalmoplegia is a childhood-onset disease characterised by progressive external ophthalmoplegia, mild facial and proximal limb weakness, and severe cardiomyopathy. Muscle biopsies show ragged-red and cytochrome C oxidase-negative fibres; the activities of several complexes in the electron-transport chain are decreased. The combination of progressive external ophthalmoplegia, cardiomyopathy, and multiple mtDNA deletions is thought to be due to a defect of communication between the nuclear and mitochondrial genomes.
exclusions
- Secondary myopathies (8C80-8C8Z)
- Myasthenia gravis or certain specified neuromuscular junction disorders (8C60-8C6Z)
synonyms
- Autosomal recessive cardiomyopathy or ophthalmoplegia
- ARCO - [Autosomal recessive cardiomyopathy and ophthalmoplegia]
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