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Background  Many patients with lower cranial dystonia (LCrD) are misdiagnosed, and recognition of this condition by general practitioners and dental health professionals is limited.    Methods  We define the phenomenology and natural history of idiopathic LCrD, presenting in 41 patients with the disorder, the largest series of these patients reported to date.    Results  Phenomenology of dystonia included lower cranial and pharyngeal involvement, jaw opening and jaw closing dystonia, and tongue dystonia. Of 25 newly described patients, 72% (18) were female, average age at onset was 56 years, and delay before correct diagnosis was 3.8 years (0-25 years, median 2 years). Eleven patients (44%) reported a precipitating event, the most common of which was recent dental work. Geste antagonistes were found in 18 patients (72%). Response to treatment was mixed, indicating an unmet therapeutic need.    Conclusions  Idiopathic LCrD is often missed and institution of effective therapy is often delayed. The clinical features and natural history of LCrD are similar to other forms of focal dystonia.    Electronic supplementary material  The online version of this article (doi:10.1186/2054-7072-1-3) contains supplementary material, which is available to authorized users.

The phenomenology and natural history of idiopathic lower cranial dystonia