Mitochondrial myopathy with cytochrome C oxidase deficiency, severe infantile form (Q95624): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
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. | |||
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 |
|---|---|---|---|
| default for all languages | ID_2001702410 |
||
| 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. |
