Hyperkinetic movement disorders in congenital disorders of glycosylation.
G MostileRita BaroneAlessandra NicolettiR RizzoD MartinelliL SturialeA FiumaraJ JankovicMario ZappiaPublished in: European journal of neurology (2019)
Hyperkinetic movement disorder is a key clinical feature in patients with CDG. CDG should be considered in the differential diagnosis of childhood-onset dyskinesia, especially when associated with ataxia, developmental delay, intellectual disability, autism or seizure disorder.