Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.
Véronique HumbertclaudeBenjamin KramsErika NogueNicolas NagotDaniel AnnequinBarbara TourniaireElisabeth Tournier-LasserveFlorence RiantAgathe Roubertienull nullPublished in: Developmental medicine and child neurology (2018)
Patients with benign paroxysmal torticollis (BPT), benign paroxysmal vertigo (BPV), and benign tonic upward gaze (BTU) have an increased risk of psychomotor delay. These patients also have an increased risk of abnormal neurological examination and cognitive dysfunction. Gene mutations, especially in CACNA1A, were identified in 21% of the families. BPT, BTU, and BPV should not be regarded as benign. BPT, BTU, and BPV should be considered as part of the spectrum of a neurodevelopmental disorder.