Effective Treatment of Geniospasm: Case Series and Review of the Literature

Mariam Hull, Mered Parnes, Mariam Hull, Mered Parnes

Abstract

Background: Geniospasm is a rare genetic disorder characterized by paroxysmal rhythmic or irregular movements of the chin and lower lip due to repetitive contractions of the mentalis muscle. Pathophysiology is poorly understood, and optimal treatment has not been established.

Methods: Geniospasm was characterized in a series of patients after evaluation in our clinics, and a comprehensive review of all cases in the medical literature was performed.

Results: We evaluated four patients (1 female) in four families with geniospasm, aged 4 months to 9 years. Bothersome symptoms were present in one patient, who was treated with regular injections of onabotulinumtoxinA, with complete resolution of symptoms and no adverse effects. 9 patients in the literature have had similar outcomes.

Conclusions: Limited data exist with regard to the effective treatment of geniospasm. Several treatments have been used historically, with variable outcomes. Our results, together with those of prior reported cases, demonstrate benefit of the use of botulinum toxin injections for management of this condition.

Keywords: botulinum toxin; chin trembling; geniospasm; hereditary chin tremor; tongue biting.

Conflict of interest statement

The authors have no competing interests to declare.

Copyright: © 2020 The Author(s).

Figures

Figure 1
Figure 1
Tongue laceration due to nocturnal tongue biting associated with geniospasm.

References

    1. Massaro D. Ventisei casi di geniospasmo attraverso cinque geneazioni:contributo clinico allo studio dell’eredità fisiopatologica. I Pisani (Palermo). 1894; 1: 47–56.
    1. Massaro D. Vingt-six cas de génio-spasme en cinq générations. Rev Neurol. 1894; 2: 534.
    1. Stocks, P. Facial spasm inherited through four generations. Biometrika. 1923; 14(3): 311–315. DOI: 10.1093/biomet/14.3-4.311
    1. Papapetropoulos S, Singer C. Sporadic geniospasm (chin trembling): report of a case. Movement Disorders. 2007; 22(3): 434 DOI: 10.1002/mds.21239
    1. Mahmoudi M, Kothare SV. Tongue biting: a case of sporadic geniospasm during sleep. Journal of Clinical Sleep Medicine. 2014; 10(12): 1339–1340. DOI: 10.5664/jcsm.4294
    1. Akiyama T, Miyahara H, Waki K, Katsuhiro Kobayashi HY. A Japanese case of hereditary chin trembling responsive to arotinolol. Parkinsonism and Related Disorders. 2016; 29: 133–134. DOI: 10.1016/j.parkreldis.2016.04.021
    1. Bakar M, Zarifoglu M, Bora I, Turan F, Sen C, Ogul E. Treatment of hereditary trembling chin with Botulinum toxin. Movement Disorder Society. 1998; 13(5): 845–850. DOI: 10.1002/mds.870130516
    1. Johnson LF, Kinsbourne M, Renuart AW. Hereditary chin-trembling with nocturnal myoclonus and tongue biting in dizygous twins. Develop. Med. Child Neurol. 1971; 13: 726–729. DOI: 10.1111/j.1469-8749.1971.tb08344.x
    1. Goraya JS, Virdi V, Parmar V. Recurrent nocturnal tongue biting in a child with hereditary chin trembling. Journal of Child Neurology. 2006; 21(11): 985–987. DOI: 10.1177/08830738060210111101
    1. Kharraz B, Reilich P, Noachtar S, Danek A. An episode of geniospasm in sleep: toward new insights into pathophysiology. Movement Disorders. 2008; 23(2): 274–305. DOI: 10.1002/mds.21722
    1. Frey E. Ein streng dominant erbliches Kinnmuskelzittern (Beitrag zur Erforschung der menschlichen Affektäu- ßerungen). Dtsch Z Nervenheilk. 1930; 115: 9–26. DOI: 10.1007/BF02196788
    1. Diaz S, Scorticati MC, Micheli F. Hereditary chin tremor/myoclonus: a report from Latin America. Movement Disorders. 1999; 14(1): 180–181. DOI: 10.1002/1531-8257(199901)14:1<180::AID-MDS1039>;2-L
    1. Ehm GH, Kim HJ, Jeon BS. Hereditary geniospasm in a Korean family. Parkinsonism and Related Disorders. 2015; 21: 665–666. DOI: 10.1016/j.parkreldis.2015.03.017
    1. Soland VL, Bhatia KP, Sheean GL, Marsden CD. Hereditary geniospasm: two new families. Movement Disorders. 1996; 11(6): 744–761. DOI: 10.1002/mds.870110626
    1. Hur MS, Kim HJ, Choi BY, Hu KS, Kim HJ, Lee KS. Morphology of the mentalis muscle and its relationship with the orbicularis oris and incisivus labii inferioris muscles. J Craniofac Surg. 2013. March; 24(2): 602–4. DOI: 10.1097/SCS.0b013e318267bcc5
    1. Danek, A. Geniospasm: hereditary chin trembling. Movement Disorders. 1992; 8(3): 335–338. DOI: 10.1002/mds.870080314
    1. Jarman PR, Wood NW, Davis MT, Davis PV, Bhatia KP, Marsden CD, Davis MB. Hereditary geniospasm: linkage to chromosome 9q13-q21 and evidence for genetic heterogeneity. Am. J. Human Genetics. 1997; 61: 928–933. DOI: 10.1086/514883
    1. Chalaupka FD, Bartholini F, Mandich G, Turro M. Two new families with hereditary essential chin myoclonus: clinical features, neurophysiological findings and treatment. Neurol. Sci. 2006; 27: 97–103. DOI: 10.1007/s10072-006-0607-x
    1. Goldsmith, JB. The inheritance of facial spasm and the effect of a modifying factor associated with high temper. Journal of Heredity. 1927; 18(4): 185–187. DOI: 10.1093/oxfordjournals.jhered.a102839
    1. Aggarwal A, Warren JE, Warren JD, Thompson PD. Facial reflex hyperexcitability in geniospasm suggests a brainstem origin. Movement Disorders. 2009; 24(5): 783–790. DOI: 10.1002/mds.22454
    1. Loi D, Provini F, Vetrugno R, D’Angelo R, Zaniboni A, Montagna P. Sleep-related faciomandibular myoclonus: A sleep-related movement disorder different from bruxism. Movement Disorders. 2007; 22(12): 1819–1822. DOI: 10.1002/mds.21661
    1. Grossman, BJ. Trembling of the chin – an inheritable dominant character. Pediatrics. 1957; 19: 453–455.
    1. Alsager DE, Bowen P, Bamforth JS. Trembling chin – a report of this inheritable dominant character in a four-generation Canadian family. Clinical Genetics. 1991; 40: 186–189. DOI: 10.1111/j.1399-0004.1991.tb03074.x
    1. Erer S, Jankovic J. Hereditary chin tremor in Parkinson’s disease. Clinical Neurology and Neurosurgery. 2007; 109: 784–785. DOI: 10.1016/j.clineuro.2007.05.020
    1. Wadlington WB. Familial Trembling of Chin. Journal of Pediatrics. 1958; 53(3): 316–321. DOI: 10.1016/S0022-3476(58)80218-8
    1. Gordon K, Cadera W, Hinton G. Successful treatment of hereditary trembling chin with botulinum toxin. J. Child Neurol. 1992; 7: 154–156. DOI: 10.1177/088307389300800208
    1. Schantz EJ, Johnson EA. Properties and use of botulinum toxin and other microbial neurotoxins in medicine. Microbiol Rev. 1992; 56: 80–99. DOI: 10.1128/MMBR.56.1.80-99.1992
    1. Blasi J, et al. Botulinum neurotoxin A selectively cleaves the synaptic protein SNAP-25. Nature. 1993; 365(6442): 160–3. DOI: 10.1038/365160a0
    1. Scott AB. Botulinum toxin injection of eye muscles to correct strabismus. Trans Am Ophthalmol Soc. 1981; 79: 734–770.
    1. Jankovic J. Botulinum toxin: State of the art. Mov Disord. 2017; 32(8): 1131–1138. DOI: 10.1002/mds.27072
    1. Destee A, Cassim F, Defebvre L, Guieu JD. Hereditary chin trembling or hereditary chin myoclonus. Journal of Neurology, Neurosurgery, and Psychiatry. 1997; 63: 804–807. DOI: 10.1136/jnnp.63.6.804
    1. Grimes DA, Han F, Bulman D, Nicolson ML, Suchowersky O. Hereditary chin trembling: a new family with exclusion of the chromosome 9q13-q21 locus. Movement Disorders. 2002; 17(6): 1390–1392. DOI: 10.1002/mds.10275
    1. Jain P, Sharma S, Aneja S. Hereditary Chin-trembling. Indian Pediatrics. 2015; 52: 720 DOI: 10.1007/s13312-015-0706-y
    1. Laurance BM, Matthews WB, Diggle JH. Hereditary quivering of the chin. Arch. Dis. Childhood. 1968; 43: 249–251. DOI: 10.1136/adc.43.228.249
    1. Fahn S. Atypical tremors, rare tremors and unclassified tremors Movement Disorders: Tremor. 1984; 431–443. London: Macmillan Press; DOI: 10.1007/978-1-349-06757-2_33
    1. Devetag Chalaupka F, Bartholini F, Mandich G, Turro M. Two new families with hereditary essential chin myoclonus: clinical features, neurophysiological findings and treatment. Neurol Sci. 2006; 27: 97–103. DOI: 10.1007/s10072-006-0607-x
    1. Macerollo, A, et al. Abnormalities of Masseteric Inhibitory Reflex in Hereditary Geniospasm: Evidence for a Brainstem Myoclonus. Movement Disorders Clinical Practice. 2014; 2(1): 49–52. DOI: 10.1002/mdc3.12097

Source: PubMed

Sponsors and Collaborators

Medical Conditions

Drug Interventions

3
Subscribe