Mitochondrial myopathy with cytochrome C oxidase deficiency, severe infantile form (Q95624): Difference between revisions
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Miopatia por deficiência de citocromo c oxidase que se apresenta logo após o nascimento com fraqueza generalizada grave, dificuldade respiratória e acidose láctica. Crianças com miopatia infantil fatal têm um curso implacável em declive e morrem de insuficiência respiratória antes de 1 ano de idade. Embora o coração, o fígado e o cérebro sejam clinicamente poupados, muitos pacientes têm doença renal com glicosúria, fosfatúria e aminoacidúria generalizada (síndrome de De Toni-Fanconi). A análise de linhagem sugere transmissão autossômica recessiva. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Cytochrome c oxidase deficiency myopathy presenting soon after birth with severe generalised weakness, respiratory distress, and lactic acidosis. Children with fatal infantile myopathy have a relentlessly downhill course and die of respiratory failure before 1 year of age. Although heart, liver, and brain are clinically spared, many patients have renal disease with glycosuria, phosphaturia, and generalised aminoaciduria (De Toni-Fanconi syndrome). Pedigree analysis suggests autosomal recessive transmission. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/2001702410 / rank | |||||||||||||||
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CID11:ID_2001702410 | |||||||||||||||
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dki-india-ID_2001702410 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
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Latest revision as of 11:26, 16 August 2026
Cytochrome c oxidase deficiency myopathy presenting soon after birth with severe generalised weakness, respiratory distress, and lactic acidosis. Children with fatal infantile myopathy have a relentlessly downhill course and die of respiratory failure before 1 year of age. Although heart, liver, and brain are clinically spared, many patients have renal disease with glycosuria, phosphaturia, and generalised aminoaciduria (De Toni-Fanconi syndrome). Pedigree analysis suggests autosomal recessive transmission.
| Language | Label | Description | Also known as |
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| default for all languages | ID_2001702410 |
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| English | Mitochondrial myopathy with cytochrome C oxidase deficiency, severe infantile form |
Cytochrome c oxidase deficiency myopathy presenting soon after birth with severe generalised weakness, respiratory distress, and lactic acidosis. Children with fatal infantile myopathy have a relentlessly downhill course and die of respiratory failure before 1 year of age. Although heart, liver, and brain are clinically spared, many patients have renal disease with glycosuria, phosphaturia, and generalised aminoaciduria (De Toni-Fanconi syndrome). Pedigree analysis suggests autosomal recessive transmission. |
Statements
CID11:ID_2001702410
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dki-india-ID_2001702410
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Concluído
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15 August 2026
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