Objective: To present a case of geniospasm in a child successfully treated with botulinum toxin injections and to review previously reported cases in the literature with emphasis on prior treatments.

Background: Geniospasm is a rare, hereditary or sporadic genetic disorder characterized by paroxysms of rhythmic movements of the chin and lower lip caused by involuntary contractions of the mentalis muscle. It was first described in 1894, and since that time it has been reported in only 40 families worldwide. The inherited form follows an autosomal dominant pattern, and may be associated with a locus on chromosome 9q13-21. Treatments have ranged from faradic current and UV light to sedatives, anticonvulsants, beta blockers, botulinum toxin, and surgery, with varied results.

Method: A 9 year-old male with ADHD, borderline IQ, and mixed receptive-expressive language disorder presented to clinic for evaluation of episodic chin quivering, seen on home video and consistent with geniospasm. Episodes were noted first at 3.5 months of age and would persist for 30 minutes to 1 hour, more with excitement or anxiety, and becoming more frequent with time. Family history revealed no history of similar movements. Treatment with onabotulinumtoxinA was initiated. A literature survey of geniospasm was performed on PubMed.

Results: With injection of 30 units of onabotulinumtoxinA to each mentalis muscle every 3 months, the patient had complete resolution of the events, with no adverse effects.

Conclusion: Geniospasm is a relatively rare movement disorder, with few reported cases. Several medications have been tried historically. In this and other reported cases, botulinum toxin injections provided resolution of symptoms.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/optimal-treatment-of-geniospasm-a-case-report-and-review-of-the-literature/