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Canavanovej choroba
Č. záznamu d017825 Dátum 06.06.2025 Typ M - MESH Tematický termín Canavanovej choroba MDT C10.228.140.163.100.362.375C10.228.140.695.625.375C10.314.400.375C10.574.500.300C16.320.400.150C16.320.565.189.362.375C18.452.132.100.362.375C18.452.648.189.362.375 Poznámka A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71) 
predmetové heslo
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