Dataset Information

The phenomenology and natural history of idiopathic lower cranial dystonia.

ABSTRACT:

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.

SUBMITTER: Termsarasab P

PROVIDER: S-EPMC4676493 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Publications

The phenomenology and natural history of idiopathic lower cranial dystonia.

Termsarasab Pichet P Tanenbaum Donald R DR Frucht Steven J SJ Frucht Steven J SJ

Journal of clinical movement disorders 20141029

<h4>Background</h4>Many patients with lower cranial dystonia (LCrD) are misdiagnosed, and recognition of this condition by general practitioners and dental health professionals is limited.<h4>Methods</h4>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.<h4>Results</h4>Phenomenology of dystonia included lower cranial and pharyngeal involvement, jaw opening and jaw closing dystonia ...[more]

PMID: 26788329

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Project description:Abstract X-linked dystonia parkinsonism is a neurodegenerative movement disorder that affects men whose mothers originate from the island of Panay, Philippines. Current evidence indicates that the most likely cause is an expansion in the TAF1 gene that may be amenable to treatment. To prepare for clinical trials of therapeutic candidates for X-linked dystonia parkinsonism, we focused on the identification of quantitative phenotypic measures that are most strongly associated with disease progression. Our main objective is to establish a comprehensive, quantitative assessment of movement dysfunction and bulbar motor impairments that are sensitive and specific to disease progression in persons with X-linked dystonia parkinsonism. These measures will set the stage for future treatment trials. We enrolled patients with X-linked dystonia parkinsonism and performed a comprehensive oromotor, speech and neurological assessment. Measurements included patient-reported questionnaires regarding daily living activities and both neurologist-rated movement scales and objective quantitative measures of bulbar function and nutritional status. Patients were followed for 18 months from the date of enrollment and evaluated every 6 months during that period. We analysed a total of 87 men: 29 were gene-positive and had symptoms at enrollment, seven were gene-positive and had no symptoms at enrollment and 51 were gene-negative. We identified measures that displayed a significant change over the study. We used principal variables analysis to identify a minimal battery of 21 measures that explains 67.3% of the variance over the course of the study. These measures included patient-reported, clinician-rated and objective quantitative outcomes that may serve as endpoints in future clinical trials. Acuna et al. analysed a total of 87 men: 36 were gene-positive and 51 were gene-negative. We identified a minimal battery of 21 measures that explains 67.3% of the variance over the course of the study and these may serve as endpoints in future clinical trials. See Haq and Brashear (https://doi.org/10.1093/braincomms/fcad125) for a scientific commentary on this article. Graphical Abstract Graphical Abstract

Dataset Information

The phenomenology and natural history of idiopathic lower cranial dystonia.

Background

Methods

Results

Conclusions

Publications

The phenomenology and natural history of idiopathic lower cranial dystonia.

Similar Datasets

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