|infantiele spinocerebellaire ataxie (aandoening)|
infantiele spinocerebellaire ataxie
Infantile onset spinocerebellar ataxia
Ophthalmoplegia, hypotonia, ataxia, hypoacusis, athetosis syndrome
A hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described in Finnish families. Some patients show intellectual deficit. Epilepsy is a late manifestation and seizures may be life threatening. Caused by mutations in the C10orf2 gene (10q24) encoding the mitochondrial helicase Twinkle. The c.1523A>G (p.Y508C) causative mutation has been postulated to be a founder mutation. The mutations lead to mtDNA depletion in the brain and the liver but not in the muscle. Inherited in an autosomal recessive manner.
|referentieset met complexe 'mapping' naar ICD-10|
|Advice||ALWAYS G11.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION|
|Correlation||SNOMED CT source code to target map code correlation not specified|