The phenomenology and natural history of idiopathic lower cranial dystonia.

Pichet Termsarasab,Donald R Tanenbaum,Steven J Frucht

doi:10.1186/2054-7072-1-3

Pichet Termsarasab, Donald R Tanenbaum + Show 1 more

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https://doi.org/10.1186/2054-7072-1-3

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Abstract

BackgroundMany patients with lower cranial dystonia (LCrD) are misdiagnosed, and recognition of this condition by general practitioners and dental health professionals is limited.MethodsWe 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.ResultsPhenomenology 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.ConclusionsIdiopathic 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 materialThe online version of this article (doi:10.1186/2054-7072-1-3) contains supplementary material, which is available to authorized users.

Highlights

Many patients with lower cranial dystonia (LCrD) are misdiagnosed, and recognition of this condition by general practitioners and dental health professionals is limited
We present 41 patients with idiopathic LCrD (25 newly reported), the largest report to date of
Geste antagonistes were found in 18 patients (72%)

Summary

Introduction

Many patients with lower cranial dystonia (LCrD) are misdiagnosed, and recognition of this condition by general practitioners and dental health professionals is limited. Many patients with LCrD are misdiagnosed, and recognition of this condition by general practitioners and dental health professionals is limited, delaying appropriate diagnosis and treatment. Two hundred and twenty eight patients with lower cranial dystonia have been reported in at least 8 prior case series/reports [1,2,3,4,5,6,7,8], significant limitations in these reports include; 1) mixing of patients with tardive or other secondary forms of LCrD; 2) inclusion of patients with dystonia in other body regions such as the upper face or neck; and, 3) lack of detailed phenomenologic descriptions. We present 41 patients with idiopathic LCrD (25 newly reported), the largest report to date of idiopathic LCrD, in order to increase awareness and facilitate diagnosis and treatment of this unusual condition

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