Autosomal recessive cardiomyopathy or ophthalmoplegia

Description

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.

Index terms

Autosomal recessive cardiomyopathy or ophthalmoplegia
ARCO - [Autosomal recessive cardiomyopathy and ophthalmoplegia]

Excludes

http://id.who.int/icd/entity/1159616108 – Secondary myopathies
http://id.who.int/icd/entity/1425591047 – Myasthenia gravis or certain specified neuromuscular junction disorders

Exclusions from above levels

http://id.who.int/icd/entity/155258022 – Metabolic disorders
LD26.41 – Arthrogryposis multiplex congenita
05 – Endocrine, nutritional or metabolic diseases

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18 – Complications of pregnancy, childbirth and the puerperium
19 – Certain conditions originating in the perinatal period
22 – Injury, poisoning or certain other consequences of external causes

Sibling codes

8C73.1 – Neuropathy, ataxia, and retinitis pigmentosa
8C73.Y – Other specified mitochondrial myopathies
8C73.Z – Mitochondrial myopathies, unspecified

Foundation entity

Autosomal recessive cardiomyopathy or ophthalmoplegia – http://id.who.int/icd/entity/607844076

Part of: 8C73: Mitochondrial myopathies › 08: Diseases of the nervous system