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 has no clarifying diagnoses.

The diagnosis is coded elsewhere:

• Mitochondrial myopathies #10052