Video Segment 1
Home video illustrating geniospasm in a child.
Figure 1
Tongue laceration due to nocturnal tongue biting associated with geniospasm.
Table 1
Illustrative cases of geniospasm newly described in this article including pertinent historical details, diagnostics, treatment, and outcome.
| PATIENT | AGE OF PRESENTATION | SEX | AGE OF ONSET | TRIGGERS | ASSOCIATED SYMPTOMS | PAST MEDICAL HISTORY | FAMILY HISTORY | DIAGNOSTIC STUDIES | TREATMENT | OUTCOME |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 9 years | M | 3.5 months | Strong Emotions | None | ADHD, Borderline IQ, Mixed receptive-expressive language disorder | None | MRI Brain Normal | OnabotulinumtoxinA – 30 U to each mentalis | Complete resolution No adverse effects |
| 2 | 7 months | M | Early infancy | None | None | Healthy | None | None | Spontaneous remission by 1 year | |
| 3 | 14 months | M | First day of life | None | Recurrent Nocturnal tongue biting | Healthy | Mother and maternal grandfather with similar symptoms and recurrent hiccups | EEG normal | None | |
| 4 | F | Young adulthood | Stress | None | Recurrent hiccups | Mother of patient 3 | None | Plan for OnabotulinumtoxinA injections | ||
| 5 | M | Young adulthood | Stress | None | Recurrent hiccups | Maternal Grandfather of patient 3 | None | None | ||
| 6 | 4 months | F | First day of life | None | None | Healthy | None | None | None |
Table 2
Geniospasm cases described in the literature including pertinent historical details, diagnostics, treatment, and outcome.
| YEAR OF PUBLICATION | AUTHOR | AGE AT PRESENTATION | SEX | AGE OF ONSET | TRIGGERS | ASSOCIATED SYMPTOMS | PAST MEDICAL HISTORY | FAMILY HISTORY | DIAGNOSTIC STUDIES | TREATMENT | OUTCOMES |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1923 | Stocks, P [3] | 18 years | M | – | Stress | None | Healthy | Two siblings, cousins, and niece with similar symptoms | None | None | |
| 1957 | Grossman, BJ [22] | 3 years | M | Infancy | Strong emotions | None | Healthy | Father, paternal uncle, paternal grandfather with similar symptoms Father, paternal uncle, and paternal grandmother with otosclerosis | None | None | |
| 1958 | Wadlington, WB [25] | 40 years | F | Early childhood | Strong emotions | None | Healthy | Father and two sisters with same symptoms and two sonsA,B with similar symptoms | EEG normal | Phenytoin 100 mg BID Hydroxyzine 30 mg BID | Some degree of Improvement Some degree of improvement No adverse effects |
| 9 years | M | 8 weeks | None | None | Healthy | SonA | None | Phenytoin 10 mg/kg/day Hydroxyzine 20 mg BID | Some degree of improvement Some degree of improvement No adverse effects | ||
| 2 years | M | 4 months | During sleep, Strong emotions | None | Healthy | SonB | None | Phenytoin 10 mg/kg/day Hydroxyzine 10 mg BID | Some degree of improvement Some degree of improvement No adverse effects | ||
| 1968 | Laurance et. al [34] | 5 years | M | Infancy | Strong emotions | Trembling impaired speech | Healthy | Maternal grandmother and maternal aunt with similar symptoms | EEG normal Needle EMG – rhythmic discharges of polyphasic complexes at 10 per second | None | |
| 6 years | M | 1 month | None | None | Bifid left kidney, strabismus | Sister, mother, maternal grandmother with similar symptoms | None | None | |||
| 1971 | Johnson et. al [8] | 13 months | M | Infancy | None | Tongue biting | Sleep myoclonus | Twin brotherC, older brother, father, paternal grandfather, and paternal uncle with similar symptoms Paternal aunt with seizures | Electrolytes, Urine organic acids, Skull films, and EEG normal | Valium | No improvement |
| 21 months | M | Infancy | None | None | Sleep myoclonus | Twin brotherC | None | None | |||
| 1984 | Fahn, S. [35] | 30 years | M | Early childhood | None | None | Healthy | SonD with similar symptoms | None | None | |
| 8 months | M | Infancy | None | None | Healthy | SonD | None | None | |||
| 1992 | Danek, A [16] | 13 years | M | Infancy | Stress | None | Somnambulism | Five other family members with similar chin movements One family member with Charcot-Marie-Tooth | Needle EMG – rhythmic polymorphic discharges in the mentalis | None | |
| 28 years | F | Early childhood | Stress, waking in the morning | None | Migraines | SonE and 10 other family members with similar symptoms | Needle EMG – rhythmic polymorphic discharges in the mentalis | None | |||
| 4 months | M | 2 weeks | Before and during breastfeeding | None | Healthy | SonE | Needle EMG – rhythmic polymorphic discharges in the mentalis | None | |||
| 1992 | Gordon et. al [26] | 28 years | M | 2 weeks | Strong emotions | None | Healthy | BrotherF, father*, and several paternal uncles with similar symptoms | None | 5 units botulinum toxin (Oculinum, Allergan) to each mentalis muscle q2–3 months | Complete resolution of symptoms for 2–3 months following each injection No adverse effects |
| 8 years | M | Infancy | None | None | Healthy | BrotherF | None | 5 units botulinum toxin (Oculinum, Allergan) to each mentalis muscle q2–3 months | Complete resolution of symptoms for 2–3 months following each injection No adverse effects | ||
| 1996 | Soland et. al [14] | 31 years | M | 4 years | During sleep, Strong emotions | Trembling impaired speech, drinking, and sleep | Action tremor | 16 family members with similar symptoms | CBC, peripheral smear, serum copper and ceruloplasmin normal EMG – during quivering showed motor units of normal morphology firing asynchronously | Variety of medications (unspecified) Botulinum toxin injection (Dysport 60 units) into mentalis on each side | No improvement Complete resolution of symptoms within one week of injections No adverse effects |
| 38 years | F | Early childhood | Stress, strong emotions | None | Healthy | Sister with nocturnal episodes and tongue biting, 11 other family members with similar chin movements | None | Self resolved by late twenties | |||
| 1997 | Destee et. al [31] | 35 years | M | Infancy | Stress | None | Healthy | DaughterG, Brother, motherH, nephewI, and five cousins with similar symptoms | EEG normal Surface EMG – Sometimes bursts discharged in rhythmically but most often discharge frequency was irregular | None | |
| 4 years | F | Infancy | During sleep | None | Healthy | DaughterG | None | None | |||
| 62 years | F | Infancy | Stress | None | Healthy | MotherH | None | Self resolved with time | Occasionally felt shivering of the chin when stressed that was not visible | ||
| 11 years | M | Infancy | None | Trembling impaired speech | Healthy | NephewI | None | None | |||
| 1998 | Bakar et. al [7] | 28 years | M | Birth | Strong emotions | None | Healthy | Mother and maternal grandmother with similar symptoms | None | Sedatives and anticonvulsants Botulinum toxin(Botox) injections (25 units) in each mentalis and mylohyoid q4–5 months | Unsatisfactory results Complete resolution of symptoms within two days of injections and lasting 5 months Adverse effects – abnormal appearance of mouth with corners depressing lower lip and center of lower lip elevated which lasted 30–45 days and resolved. Subsequent injection volumes reduced equal dose. No further adverse effects |
| 1999 | Diaz et. al [12] | 63 years | F | Early childhood | Stress, gazing at flying objects | None | Healthy | 28 family members with similar symptoms | Blood count, serum and urine copper, ceruloplasmin normal Surface EMG over mentalis – synchrony of motor unit firing without evidence of denervation Needle EMG – bursts of motor units of normal morphology firing pseudo-rhythmically throughout the muscle at 7–8 Hz | None | |
| 2002 | Grimes et. al [32] | 15 years | M | Infancy | Fatigue, stress | None | Healthy | Numerous other family members with similar symptoms | Evaluated for changes on the chromosome 9q13-q21 locus through sequencing analysis-Negative | 2.5 to 5 units botulinum toxin type A to each mentalis muscle q3–4 months | Complete resolution of symptoms No adverse effects |
| 2006 | Devetag et. al [36] | 16 years | M | Infancy | Anxiety, stress, tapping the chin | None | Healthy | Brother, grandmother, cousin, paternal aunt with similar symptoms | EEG, Median and trigeminal SEPs normal EMG – arrhythmic spontaneous activity from the mentalis muscle increased after tapping the muscle and disappeared during sleep | Clonazepam Botulinum toxin (Botox, Allergan) 5 units to each mentalis muscle q3–4 months | No improvement Complete resolution of symptoms No adverse effects |
| 2006 | Goraya et. al [9] | 13 months | M | Infancy | During Sleep | Tongue biting during sleep | Healthy | Father with similar symptoms | EEG normal | Carbamazepine 100 mg BID Clonazepam 0.5 mg BID | No improvement Mild improvement |
| 2007 | Erer, S and Jankovic, J [24] | 74 years | M | Early childhood | Stress | None | Parkinson’s disease | Two younger brothers with similar symptoms | None | Clonazepam 2 mg BID Bromocriptine 2.5 mg TID Carbidopa/levodopa 25/100 TID | No improvement No improvement No improvement |
| 2007 | Papapetropolous, S and Singer, C [4]. | 15 years | F | Infancy | Feeding, Strong emotions Temper-ature changes | Impaired eating and drinking | Healthy | No family history of abnormal movements | CT/MRI brain, EEG normal | 25 units botulinum toxin type A to each mentalis muscle q 9 months | 95% improvement in symptoms No adverse effects |
| 2008 | Kharraz et. al [10] | 70 years | M | Early childhood | Strong emotions, physical stress | None | Healthy | Two daughtersJ,K with similar symptoms | EMG/NCS – no evidence of myopathic or neuropathic changes. Bilateral synchronous activity exclusively restricted to mentalis. Normal nerve conduction velocities to the chin. | Decreased in frequency with age | |
| 44 years | F | Early childhood | Strong emotions, physical stress | None | Healthy | DaughterJ | EMG/NCS as above | None | |||
| 43 years | F | Early childhood | Strong emotions, physical stress | None | Healthy | DaughterK | EMG/NCS as above Sleep study – chin trembling during sleep phase 2 | None | |||
| 2009 | Aggarwal et. al [20] | 42 years | M | Childhood | None | None | Healthy | Six family members with similar chin movements | EMG/NCS – spontaneous arrhythmic discharges of normal motor units in both mentalis muscle, no peripheral facial nerve hyperexcitability/denervation, presence of bilateral facial nuclear hyperexcitability demonstrated by spread of facial reflex response | Medications (not specified) Left lower peripheral facial nerve surgery 30 units botulinum toxin (Botox, Allergan) to each mentalis q8-10 months) | No improvement No improvement Complete resolution of symptoms No adverse effects |
| 2014 | Mahmoudi, M and Kothare, SV [5] | 17 years | M | 12 years | Sleep | Tongue biting | Healthy | No family history of abnormal movements | CT/MRI brain normal Sleep study captured periods of tremor of chin and lower lip during sleep | Clonazepam 0.5 mg at bedtime | No improvement No adverse effects |
| 2014 | Macerollo, A et. al [37] | 68 years | M | Early childhood | Strong emotions, concentration | None | Healthy | DaughterL with similar symptoms | None | None | |
| 37 years | F | Early childhood | Strong emotions, concentration | None | Healthy | DaughterL | None | None | |||
| 32 years | F | Early childhood | Strong emotions, concentration | None | Healthy | Several family members with similar symptoms | None | None | |||
| 2015 | Ehm et. al [13] | 40 years | F | Early childhood | Strong emotions | None | Healthy | Six family members with similar symptoms | None | Clonazepam 0.5 mg TID Carbamazepine 100 mg TID | Modest improvement Modest improvement No adverse effects |
| 2015 | Jain et. al [33] | 5 years | F | Early infancy | None | None | Healthy | Father with similar symptoms | EEG normal Neuroimaging normal | None | |
| 2016 | Akiyama et. al [6] | 9 years | F | 1 week | None | None | Healthy | MotherM with similar symptoms | Electrolytes and thyroid studies normal CT/MRI normal EEG normal EMG – repetitive bursts of muscle activity that decreased during stage 1 sleep and disappeared during stage 2 sleep | Arotinolol (peripherally acting beta blocker with weak alpha blockade) 2.5 mg titrated to 7.5 mg BID | Significant reduction with 2–3 days of symptom free days per week |
| 36 years | F | Early childhood | Stress | Impaired sleep | Healthy | MotherM | None | None | Noted improvement with alcohol | ||
| 2020 | This article | 9 years | M | 3.5 months | Strong emotions | None | ADHD, borderline IQ, mixed receptive-expressive language disorder | None | MRI brain normal | OnabotulinumtoxinA – 30 U to each mentalis | Complete resolution, no adverse effects |
| 7 months | M | Early infancy | None | None | Healthy | None | None | Spontaneous remission by 1 year | |||
| 14 months | M | First day of life | None | Nocturnal tongue biting | Healthy | MotherN and maternal grandfatherO with similar symptoms and recurrent hiccups | EEG normal | None | |||
| F | Young adulthood | Stress | None | Recurrent hiccups | MotherN | None | Plan for OnabotulinumtoxinA injections | ||||
| M | Young adulthood | Stress | None | Recurrent hiccups | Maternal GrandfatherO | None | None | ||||
| 4 months | F | First day of life | None | None | Healthy | None | None | None |
[i] * Father was also injected with 5 units botulinum toxin (Oculinum, Allergan) to each mentalis muscle interdose interval 2–3 months with complete resolution of symptoms and no adverse effects.