ICD-11 classes
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C73 — Mitochondrial myopathies
8C73.0 — Autosomal recessive cardiomyopathy or ophthalmoplegia
ICD-11 8C73.0 — Autosomal recessive cardiomyopathy or ophthalmoplegia
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 shows 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.
The diagnosis includes nothing.
It excludes 2 items.
- Secondary myopathies (8C80-8C8Z)
- Myasthenia gravis or certain specified neuromuscular junction disorders (8C60-8C6Z)
It has no clarifying diagnoses.
The diagnosis is coded elsewhere:
- Mitochondrial myopathies #10052