Canavan disease (Q87886): Difference between revisions
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A doença de Canavan ou degeneração esponjosa do sistema nervoso central ou deficiência de aspartoacilase é uma degeneração neurológica autossômica recessiva. É caracterizada por hipotonia axial e macrocefalia que aparecem entre o 2º e 4º meses de vida na forma infantil e posteriormente na forma juvenil. A degeneração neurológica continua com espasticidade, opistótono, perda de contato com o mundo exterior, distúrbios do sono, cegueira e convulsões. | |||
| description / en | description / en | ||
Canavan's disease or spongy degeneration of the central nervous system or aspartoacylase deficiency is an autosomal recessive neurological degeneration characterised by axial hypotonia and macrocephaly appear between the 2nd and 4th months in infantile forms, later on in the juvenile form. Neurological degeneration continues with spasticity, opisthotonos, loss of contact with the outer world, sleep disorders, blindness, and convulsions. | |||
Revision as of 13:55, 15 August 2026
Canavan's disease or spongy degeneration of the central nervous system or aspartoacylase deficiency is an autosomal recessive neurological degeneration characterised by axial hypotonia and macrocephaly appear between the 2nd and 4th months in infantile forms, later on in the juvenile form. Neurological degeneration continues with spasticity, opisthotonos, loss of contact with the outer world, sleep disorders, blindness, and convulsions.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1576870846 |
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| English | Canavan disease |
Canavan's disease or spongy degeneration of the central nervous system or aspartoacylase deficiency is an autosomal recessive neurological degeneration characterised by axial hypotonia and macrocephaly appear between the 2nd and 4th months in infantile forms, later on in the juvenile form. Neurological degeneration continues with spasticity, opisthotonos, loss of contact with the outer world, sleep disorders, blindness, and convulsions. |
