Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome (disorder) | | MEPAN syndrome | | Autosomal recessive childhood-onset dystonia DYT29 type Mitochondrial enoyl coenzyme A reductase protein-associated neurodegeneration syndrome DYT29 - dystonia 29 Childhood-onset generalized dystonia, optic atrophy syndrome
| | A rare genetic neurological disorder with characteristics of childhood-onset dystonia with distinctive MRI changes in the basal ganglia and optic atrophy developing either immediately or within a few years after the appearance of dystonia. Additional symptoms include chorea and other movement disorders, dysarthria or nystagmus among others. Motor disability progresses gradually, while cognitive function is relatively spared. |
| Id | 1236805005 | Status | Primitive |
ICD-10 complex map reference set | Target | E88.8 | Rule | TRUE | Advice | ALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | Correlation | SNOMED CT source code to target map code correlation not specified |
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