RARE DISEASE
Hemifacial spasm
Hemifacial spasm
Hemifacial spasm
Synonyms: Facial hemispasm, Focal myoclonus of face
Synonyms: Facial hemispasm, Focal myoclonus of face
Synonyms: Facial hemispasm, Focal myoclonus of face
Drug discovery
1
drug
With orphan designation
Overview
Hemifacial spasm (HFS) is a movement disorder characterized by unilateral, involuntary contractions of facial muscles, typically beginning in the eyelid and progressing to the cheek and mouth [1][6][10]. Most cases stem from neurovascular compression of the facial nerve, though tumors or nerve injuries may cause secondary HFS [1][6]. Diagnosis relies on clinical evaluation and MRI to identify vascular compression [1][10]. First-line treatment involves botulinum toxin injections for symptomatic relief, while microvascular decompression surgery offers long-term resolution in eligible patients [1][8][13].
Categories: rare genetic diseases, rare neurological diseases
Research Papers
1,510 drug discovery papers about Hemifacial spasm, with 1 first-in-class and 5 next-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
1,510 drug discovery papers about Hemifacial spasm, with 1 first-in-class and 5 next-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
2026-07-29 | Comparison of botulinum toxin type A administered at different dilutions in patients with clonic hemifacial spasm
Background: This study aims to compare the motor, functional, and psychosocial clinical changes and post-procedural injection pain following administration of the same total dose of botulinum toxin type A (BoNT-A) diluted with 2 mL versus 1 mL of physiological saline (PS) in patients with hemifacial spasm (HFS). Materials and Methods: This prospective study included patients with HFS, older than 18 years, who had either not previously received BoNT-A or in whom at least six months had elapsed since the last administration. Data from 21 patients who completed both application periods were analyzed. In the first application, BoNT-A was administered diluted with 2 mL of PS (0.9% NaCl), and in the subsequent period, the same total dose was diluted with 1 mL of PS. Patients were evaluated one month after each application using the Hemifacial Spasm Score; procedural pain was assessed with a 0-10 Visual Analog Scale (VAS). Changes from baseline were calculated and the dilution methods compared using the Wilcoxon signed-rank test (<em>p</em> < 0.05). Results: The mean age was 51.62 ± 13.00 years. One month after both applications, a significant decrease from baseline was observed in the severity and frequency of contractions, disease-related complaints, functional difficulties, and all psychosocial parameters. When the changes produced by the two methods were compared, no significant difference was found in the main motor parameters; however, improvement in difficulty reading, depressive mood, avoidance of eye contact, and feeling of embarrassment was greater with the 1 mL application (<em>p</em> = 0.010, <em>p</em> = 0.002, <em>p</em> = 0.007, and <em>p</em> = 0.003, respectively). The post-procedural VAS score was 2.43 ± 2.20 with 2 mL and 0.29 ± 0.78 with 1 mL, with significantly lower injection pain in the 1 mL application (<em>p</em> < 0.001). No adverse effects were observed. Conclusion: Administration of the same total BoNT-A dose diluted with either 1 mL or 2 mL of PS provided marked improvement in the motor symptoms of HFS, with no significant difference between the two dilutions in the main motor efficacy parameters. The 1 mL application was associated with lower injection pain and greater improvement in some functional-psychosocial parameters.
2026-07-19 | Management of Slowly Progressive Facial Weakness in Patients With Benign Tumors of the Facial Nerve.
Benign facial nerve tumors have unique presentations granting distinct diagnostic and management implications. Unlike acute-onset facial paralysis, the gradual, intermittent course complicates diagnosis, treatment strategy, and timing, especially when considering potential reanimation. This study presents our institutional experience and proposes approaches to management and evaluation of patients with slowly progressive facial weakness due to benign tumors. A retrospective review included patients between August 2009 and April 2026 with slowly progressive facial weakness or hemifacial spasm due to a benign facial nerve tumor. Demographics, facial palsy history, tumor characteristics, treatment strategies, reanimation procedures, and outcomes were analyzed. Fifteen patients met inclusion criteria with a mean age of onset of 45 years. Sixty-seven percent were initially misdiagnosed. Forty-seven percent presented with synkinesis. The most common tumor type was facial nerve schwannoma (60%). Forty percent underwent complete resection, 27% received radiation, and 27% are under observation. Six patients underwent dynamic facial reanimation: proactively (before tumor extirpation) in three cases, with one undergoing both proactive and concomitant reanimation during extirpation, concomitantly with extirpation in one, and following radiation in one. All achieved recovery of motion on average 3.7 months (range 2-7) later. Two patients are currently planned for reanimation. Benign facial nerve tumors require individualized management based on functional trajectory, tumor characteristics, and patient preference. Treatment options range from observation and radiation to surgical extirpation, but due to the slowly progressive and partial nature of the facial paralysis, the reanimation strategy is guided not only by mimetic musculature viability but also by patient preference on timing. In patients with progressive weakness and anticipated nerve sacrifice during extirpation, proactive reanimation using nerve transfers, cross facial nerve grafts, and free functional muscle transfer should be considered early to establish reinnervation pathways before the denervation window closes, avoiding irreversible facial paralysis.
2026-06-02 | Eye spasm/Eye twitching: Mg Supplementation and Stress-Reduction in Treating Eyelid Myokymia, Psychosomatic of Anxiety: of Eye Twitching Among High-Stress, Hemifacial Spasm,Blepharospasm
Eyelid twitching and involuntary facial muscle spasms have become common neuromuscular disorders due to stress, anxiety, sleeplessness, prolonged computer usage, exhaustion, and other external factors. The purpose of this review is to discuss various neurophysiological, psychosomatic, environmental, and medical aspects of eye twitching disorders such as eyelid myokymia, hemifacial spasm, and blepharospasm in highly stressed people. Human research demonstrates that chronic stress along with dysfunction in the autonomic nervous system plays an important role in neuromuscular hyperactivity and ocular muscle spasms. Magnesium is discussed in this review as an important nutrient for nerve signaling, muscle relaxation, and neurotransmitter function. Therefore, magnesium intake in combination with stress management methods like meditation, yoga, and sleep may help alleviate the symptoms of eyelid twitches. Neurological complications like hemifacial spasm and blepharospasm generally require the intervention of drugs, neurological procedures like botulinum toxin injection therapy, anticonvulsants, and microvascular decompression surgery. The review also touches upon the effects of prolonged muscular spasm within the eye muscles on emotions, occupation, and quality of life from a psychosocial perspective. While previous human-based studies have shed light on various clinical aspects of the subject, there remain certain issues like small sample size, variation in therapeutic protocols, and absence of longitudinal studies that underscore the need for further clinical research.
2026-04-27 | Hemifacial spasm: a nodal, stretch-mediated paradigm beyond neurovascular compression.
Hemifacial spasm (HFS) has traditionally been interpreted as a neurovascular compression syndrome, in which arterial contact at the root exit zone induces focal demyelination and hyperexcitability of the facial nerve. Although this framework underpins the clinical success of microvascular decompression (MVD), multiple consistent observations remain difficult to reconcile with a purely compression-based mechanism, including the high prevalence of neurovascular contact in asymptomatic individuals, the rapid and reproducible reversibility of symptoms after surgery, and the limited and inconsistent morphological evidence for demyelination. This review integrates clinical, electrophysiological, anatomical, and biomechanical findings to re-examine the pathophysiology of HFS, with particular focus on the transitional zone at the central-peripheral myelin interface. Structural discontinuity and elastic mismatch at the transitional zone increase susceptibility to mechanical perturbation, identifying the transitional node of Ranvier as a critical site of vulnerability. I propose a revised framework-Stretched Cranial Nerve Syndrome (SCNS)-in which HFS reflects mechanically induced, reversible nodal dysfunction arising from chronic stretch and altered neurovascular geometry. This framework provides a coherent and internally consistent explanation for observations insufficiently accounted for by compression-based models, offering a more integrative mechanistic understanding of HFS.
2026-03-30 | Adverse effects of botulinum therapy in facial and neck muscles for aesthetic and neurological indications and recommendations for their prevention. Possibilities of using ultrasound navigation
Objective. To evaluate the effectiveness of ultrasound navigation to minimize adverse effects during botulinum therapy in facial muscles for aesthetic and neurological reasons. Material and methods. The analysis has been carried out on the frequency and nature of adverse effects during injections of botulinum toxin type A into the upper, middle and lower thirds of the face in patients with neurological diseases (blepharospasm, hemifacial spasm, bruxism, migraine, etc.) and for aesthetic reasons (correction of hyperkinetic facial folds). The effectiveness of ultrasound imaging methods, a comparative analysis of injection techniques, and the evaluation of the effectiveness of the drug Relatox have been assessed. Results. The overall incidence of adverse effects with the standard botulinum toxin type A injection technique is 16-18%, and decreases to 5-10% when using ultrasound navigation. In the upper third of the face, the most common complications are ptosis (15%), diplopia (8%), and dry eye (6.5%). The use of injection monitoring reduces the risk of ptosis from 25-30% to 10-15% (p<0.001) due to precise penetration into the pretarsal part of the m. orbicularis oculi. In the middle and lower third of the face, the use of ultrasound navigation minimizes the development of smile asymmetry, dysphagia, and paradoxical bulging of the masticatory muscle. The drug Relatox demonstrates high efficacy (87-92%) in the correction of migraines, facial pain and hyperkinetic wrinkles with a frequency of 3-5%. Conclusion. Ultrasound navigation significantly improves the accuracy of botulinum toxin type A administration, reduces the risk of developing adverse effects, and improves treatment outcomes. The integration of the ultrasound method into clinical practice is recommended for neurological and aesthetic procedures.
2026-07-29 | Comparison of botulinum toxin type A administered at different dilutions in patients with clonic hemifacial spasm
Background: This study aims to compare the motor, functional, and psychosocial clinical changes and post-procedural injection pain following administration of the same total dose of botulinum toxin type A (BoNT-A) diluted with 2 mL versus 1 mL of physiological saline (PS) in patients with hemifacial spasm (HFS). Materials and Methods: This prospective study included patients with HFS, older than 18 years, who had either not previously received BoNT-A or in whom at least six months had elapsed since the last administration. Data from 21 patients who completed both application periods were analyzed. In the first application, BoNT-A was administered diluted with 2 mL of PS (0.9% NaCl), and in the subsequent period, the same total dose was diluted with 1 mL of PS. Patients were evaluated one month after each application using the Hemifacial Spasm Score; procedural pain was assessed with a 0-10 Visual Analog Scale (VAS). Changes from baseline were calculated and the dilution methods compared using the Wilcoxon signed-rank test (<em>p</em> < 0.05). Results: The mean age was 51.62 ± 13.00 years. One month after both applications, a significant decrease from baseline was observed in the severity and frequency of contractions, disease-related complaints, functional difficulties, and all psychosocial parameters. When the changes produced by the two methods were compared, no significant difference was found in the main motor parameters; however, improvement in difficulty reading, depressive mood, avoidance of eye contact, and feeling of embarrassment was greater with the 1 mL application (<em>p</em> = 0.010, <em>p</em> = 0.002, <em>p</em> = 0.007, and <em>p</em> = 0.003, respectively). The post-procedural VAS score was 2.43 ± 2.20 with 2 mL and 0.29 ± 0.78 with 1 mL, with significantly lower injection pain in the 1 mL application (<em>p</em> < 0.001). No adverse effects were observed. Conclusion: Administration of the same total BoNT-A dose diluted with either 1 mL or 2 mL of PS provided marked improvement in the motor symptoms of HFS, with no significant difference between the two dilutions in the main motor efficacy parameters. The 1 mL application was associated with lower injection pain and greater improvement in some functional-psychosocial parameters.
2026-07-19 | Management of Slowly Progressive Facial Weakness in Patients With Benign Tumors of the Facial Nerve.
Benign facial nerve tumors have unique presentations granting distinct diagnostic and management implications. Unlike acute-onset facial paralysis, the gradual, intermittent course complicates diagnosis, treatment strategy, and timing, especially when considering potential reanimation. This study presents our institutional experience and proposes approaches to management and evaluation of patients with slowly progressive facial weakness due to benign tumors. A retrospective review included patients between August 2009 and April 2026 with slowly progressive facial weakness or hemifacial spasm due to a benign facial nerve tumor. Demographics, facial palsy history, tumor characteristics, treatment strategies, reanimation procedures, and outcomes were analyzed. Fifteen patients met inclusion criteria with a mean age of onset of 45 years. Sixty-seven percent were initially misdiagnosed. Forty-seven percent presented with synkinesis. The most common tumor type was facial nerve schwannoma (60%). Forty percent underwent complete resection, 27% received radiation, and 27% are under observation. Six patients underwent dynamic facial reanimation: proactively (before tumor extirpation) in three cases, with one undergoing both proactive and concomitant reanimation during extirpation, concomitantly with extirpation in one, and following radiation in one. All achieved recovery of motion on average 3.7 months (range 2-7) later. Two patients are currently planned for reanimation. Benign facial nerve tumors require individualized management based on functional trajectory, tumor characteristics, and patient preference. Treatment options range from observation and radiation to surgical extirpation, but due to the slowly progressive and partial nature of the facial paralysis, the reanimation strategy is guided not only by mimetic musculature viability but also by patient preference on timing. In patients with progressive weakness and anticipated nerve sacrifice during extirpation, proactive reanimation using nerve transfers, cross facial nerve grafts, and free functional muscle transfer should be considered early to establish reinnervation pathways before the denervation window closes, avoiding irreversible facial paralysis.
2026-06-02 | Eye spasm/Eye twitching: Mg Supplementation and Stress-Reduction in Treating Eyelid Myokymia, Psychosomatic of Anxiety: of Eye Twitching Among High-Stress, Hemifacial Spasm,Blepharospasm
Eyelid twitching and involuntary facial muscle spasms have become common neuromuscular disorders due to stress, anxiety, sleeplessness, prolonged computer usage, exhaustion, and other external factors. The purpose of this review is to discuss various neurophysiological, psychosomatic, environmental, and medical aspects of eye twitching disorders such as eyelid myokymia, hemifacial spasm, and blepharospasm in highly stressed people. Human research demonstrates that chronic stress along with dysfunction in the autonomic nervous system plays an important role in neuromuscular hyperactivity and ocular muscle spasms. Magnesium is discussed in this review as an important nutrient for nerve signaling, muscle relaxation, and neurotransmitter function. Therefore, magnesium intake in combination with stress management methods like meditation, yoga, and sleep may help alleviate the symptoms of eyelid twitches. Neurological complications like hemifacial spasm and blepharospasm generally require the intervention of drugs, neurological procedures like botulinum toxin injection therapy, anticonvulsants, and microvascular decompression surgery. The review also touches upon the effects of prolonged muscular spasm within the eye muscles on emotions, occupation, and quality of life from a psychosocial perspective. While previous human-based studies have shed light on various clinical aspects of the subject, there remain certain issues like small sample size, variation in therapeutic protocols, and absence of longitudinal studies that underscore the need for further clinical research.
2026-04-27 | Hemifacial spasm: a nodal, stretch-mediated paradigm beyond neurovascular compression.
Hemifacial spasm (HFS) has traditionally been interpreted as a neurovascular compression syndrome, in which arterial contact at the root exit zone induces focal demyelination and hyperexcitability of the facial nerve. Although this framework underpins the clinical success of microvascular decompression (MVD), multiple consistent observations remain difficult to reconcile with a purely compression-based mechanism, including the high prevalence of neurovascular contact in asymptomatic individuals, the rapid and reproducible reversibility of symptoms after surgery, and the limited and inconsistent morphological evidence for demyelination. This review integrates clinical, electrophysiological, anatomical, and biomechanical findings to re-examine the pathophysiology of HFS, with particular focus on the transitional zone at the central-peripheral myelin interface. Structural discontinuity and elastic mismatch at the transitional zone increase susceptibility to mechanical perturbation, identifying the transitional node of Ranvier as a critical site of vulnerability. I propose a revised framework-Stretched Cranial Nerve Syndrome (SCNS)-in which HFS reflects mechanically induced, reversible nodal dysfunction arising from chronic stretch and altered neurovascular geometry. This framework provides a coherent and internally consistent explanation for observations insufficiently accounted for by compression-based models, offering a more integrative mechanistic understanding of HFS.
2026-03-30 | Adverse effects of botulinum therapy in facial and neck muscles for aesthetic and neurological indications and recommendations for their prevention. Possibilities of using ultrasound navigation
Objective. To evaluate the effectiveness of ultrasound navigation to minimize adverse effects during botulinum therapy in facial muscles for aesthetic and neurological reasons. Material and methods. The analysis has been carried out on the frequency and nature of adverse effects during injections of botulinum toxin type A into the upper, middle and lower thirds of the face in patients with neurological diseases (blepharospasm, hemifacial spasm, bruxism, migraine, etc.) and for aesthetic reasons (correction of hyperkinetic facial folds). The effectiveness of ultrasound imaging methods, a comparative analysis of injection techniques, and the evaluation of the effectiveness of the drug Relatox have been assessed. Results. The overall incidence of adverse effects with the standard botulinum toxin type A injection technique is 16-18%, and decreases to 5-10% when using ultrasound navigation. In the upper third of the face, the most common complications are ptosis (15%), diplopia (8%), and dry eye (6.5%). The use of injection monitoring reduces the risk of ptosis from 25-30% to 10-15% (p<0.001) due to precise penetration into the pretarsal part of the m. orbicularis oculi. In the middle and lower third of the face, the use of ultrasound navigation minimizes the development of smile asymmetry, dysphagia, and paradoxical bulging of the masticatory muscle. The drug Relatox demonstrates high efficacy (87-92%) in the correction of migraines, facial pain and hyperkinetic wrinkles with a frequency of 3-5%. Conclusion. Ultrasound navigation significantly improves the accuracy of botulinum toxin type A administration, reduces the risk of developing adverse effects, and improves treatment outcomes. The integration of the ultrasound method into clinical practice is recommended for neurological and aesthetic procedures.
Access all drug discovery papers and probability of success in trials forecasts:
Access all drug discovery papers and probability of success in trials forecasts:
Drug Discovery Landscape
1 orphan drug designation for Hemifacial spasm.
1 orphan drug designation for Hemifacial spasm.
Drug | Therapy type | Regulator | Orphan designation | Approval | Sponsor |
|---|---|---|---|---|---|
incobotulinumtoxinA | proteins | FDA | 2022-11-28 | — | Merz Pharmaceuticals, LLC |
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