First Report of Geniospasm in a Five-Generation Brazilian Family: Clinical Features, Electromyography Findings and Botulinum Toxin Treatment

Objective: To better characterize oromandibular dystonia (OMD) to facilitate early diagnosis and test the hypothesis that botulinum toxin treatment alleviates symptoms, regardless of etiology, to provide guidance on treatment strategies. Methods: To better characterize this condition we utilize a three-pronged approach. First, we provide a comprehensive summary of the worlds literature encompassing 1157 cases in 27 separate manuscripts. Next, we describe the clinical features of 727 OMD subjects enrolled by the Dystonia Coalition (DC), an international multicenter database. Finally, we provide details of the treatment approach and response from two expert centers where large numbers of OMD patients are followed. Cases from expert centers were utilized to analyze whether response to botulinum toxin varied by etiology of OMD. Results: In all cohorts, typical age at onset was in the 50s and approximately 70% of cases were female. Although the literature OMD more commonly described as a focal dystonia, analysis of the DC database revealed it more commonly appears as part of a segmental dystonia. Expert center review of 173 cases revealed botulinum toxin injections improved symptom severity by more than 50% in approximately 78% of subjects. Among the patients at expert centers, analysis revealed that treatment response did not vary by etiology. Conclusions: Botulinum toxin injections are an effective treatment for OMD, regardless of etiology. By providing a more comprehensive description of OMD and the therapeutic efficacy of botulinum toxin for this type of dystonia, we hope to improve clinical recognition to aid in timely diagnosis and inform treatment strategies.

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Clinical features and treatment with botulinum toxin in blepharospasm: a 17-year experience

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2012000900003 ◽

2012 ◽

Vol 70 (9) ◽

pp. 662-666 ◽

Cited By ~ 2

Author(s):

Camila Catherine Aquino ◽

Andre C. Felício ◽

Pollyanna Celso Felipe de Castro ◽

Ricardo Araujo Oliveira ◽

Sonia Maria Cesar Azevedo Silva ◽

...

Keyword(s):

Botulinum Toxin ◽

Clinical Features ◽

Age Of Onset ◽

Smoking History ◽

Clinical Aspects ◽

Lower Face ◽

Therapeutic Outcomes ◽

History Of ◽

Botulinum Toxin Treatment ◽

The Mean

OBJECTIVE: It was to analyze clinical aspects of patients with blepharospasm, including outcomes of botulinum toxin treatment. Additionally, clinical characteristics of isolated blepharospasm were compared to those of blepharospasm plus other movement disorders. METHODS: Clinical data recorded during 17 years were reviewed. The variables included age, gender, age of onset, past medical history, head trauma, smoking history, family history of dystonia, severity, duration of botulinum toxin relief and adverse effects. RESULTS: A total of 125 patients were included and 75.2% were female. The mean age of onset was 54.3 years; 89.6% of the individuals started with contractions in eye region, and 39.2% of them spread to lower face or neck. Isolated blepharospasm group was compared with blepharospasm-plus group for demographic and clinical features, and therapeutic outcomes, without significant differences. Botulinum toxin treatment improved the severity of contractions (p=0.01) with low rate of side effects (14%). CONCLUSIONS: Both groups - isolated blepharospasm and blepharospasm-plus - shared similar results concerning epidemiology, clinical features and therapeutic response to botulinum toxin.

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