Oxidase Deficiency 1 Synonyms CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY Classification genetic, metabolism Phenotypes Autosomal recessive inheritance ; Basal ganglia gliosis ; Congenital onset ; Death in infancy ; Feeding [mousephenotype.org]

difficulties Hypotonia 20/12 No Proximal LL, Distal LL Yes (NGT feeds) No Yes 394 4.3 ND ND 2 13y - UK 8/52 Feeding difficulties Hypotonia 18/12 No Yes (NGT feeds) No Yes 634 3.18 ND ND 2 3 22y M UK 10/52 Feeding and Respiratory difficulties Hypotonia [ncbi.nlm.nih.gov]

Results Patients presented with subacute onset of profound hypotonia, feeding difficulties and lactic acidosis within the first months of life. Although recovery was remarkable, a mild myopathy persisted into adulthood. [jmg.bmj.com]

Encephalopathy is manifested by motor delay, mental retardation, progressive cognitive decline, seizures, and feeding difficulties. [dovepress.com]

[…] translation 15q22.31 AR LS [lxx] MTO1 614667 tRNA modification 6q13 AR Cardiomyopathy [lxxi] TRMT5 611023 mitochondrial tRNA methylation 14q23.1 AR Cardiomyopathy/exercise intolerance [lxxii] TRMT10C 615423 TRNA Methyltransferase 3q12.3 AR Hypotonia, feeding [mitomap.org]

Due To Cytochrome C Oxidase Deficiency 1 Synonyms CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY Classification genetic, metabolism Phenotypes Autosomal recessive inheritance ; Basal ganglia gliosis ; Congenital onset ; Death [mousephenotype.org]

Wetterling Summary A 42-year-old woman had a 10-year history of external ophthalmoplegia, malabsorption resulting in chronic malnutrition, muscle atrophy and polyneuropathy. Computer tomography revealed hypodensity of her cerebral white matter. [link.springer.com]

Physiotherapy and pharmacotherapy for neuromuscular concerns, appropriate feeding methods to prevent malnutrition and aspiration, and aggressive treatment of fever and infections are further important treatment parameters to hopefully improve quality [dovepress.com]

[…] of hair cells (HCs). [medworm.com]

distress Associated Genes SCO2 (Withdrawn symbols: MYP6, SCO1L ) Mouse Orthologs Sco2 Source OMIM:604377 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse [mousephenotype.org]

Distress 1 Spinal Muscular Atrophy, Diaphragmatic DSMA1 DHMN6 HMN VI HMN6 SIANRF SMARDI 604320 Genetic Test Registry Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 Neuronopathy, Distal Hereditary Motor, Jerash Type Neuropathy, Distal Hereditary [ukgtn.nhs.uk]

Most patients also show neurologic abnormalities, such as abnormal breathing pattern, nystagmus, and gyral abnormalities, consistent with encephalopathy. The disorder is usually fatal in early infancy (summary by Papadopoulou et al., 1999). [ncbi.nlm.nih.gov]

The following neurological stigmata are also frequently seen: abnormal breathing, nystagmus and gyral abnormalities. The disorder is usually fatal in early infancy. Those with mutations in the SCO2 gene, tend to have a more severe disease. [bredagenetics.com]

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. Human Molecular Genetics 22, 656-667. [mitomap.org]

[…] cardiomyopathy ; Increased CSF lactate ; Increased serum lactate ; Lactic acidosis ; Limited extraocular movements ; Muscular hypotonia ; Neuronal loss in basal ganglia ; Neuronal loss in central nervous system ; Respiratory distress Associated Genes SCO2 (Withdrawn [mousephenotype.org]

Definition A disorder characterized by hypotonia, developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, neuronal loss in basal ganglia, brainstem and spinal cord, and cytochrome c oxidase deficiency. [uniprot.org]

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 1 Synonyms CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY Classification genetic, metabolism Phenotypes Autosomal recessive inheritance ; Basal ganglia gliosis [mousephenotype.org]

Defects in Sco2 are the cause of fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) (OMIM:604377, OMIM:220110), which is characterised by hypertrophic cardiomyopathy, lactic acidosis, and gliosis. [ebi.ac.uk]

Characteristic neuropathology includes spongiform lesions with relative preservation of neurons, associated with demyelination and gliosis. 12 These lesions, often accompanied by demyelination, are seen bilaterally and symmetrically throughout the brain [dovepress.com]