The Many Faces of Hemifacial Spasm: Differential Diagnosis of Unilateral Facial Spasms

Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA.
Movement Disorders (Impact Factor: 5.68). 08/2011; 26(9):1582-92. DOI: 10.1002/mds.23692
Source: PubMed


Hemifacial spasm is defined as unilateral, involuntary, irregular clonic or tonic movement of muscles innervated by the seventh cranial nerve. Most frequently attributed to vascular loop compression at the root exit zone of the facial nerve, there are many other etiologies of unilateral facial movements that must be considered in the differential diagnosis of hemifacial spasm. The primary purpose of this review is to draw attention to the marked heterogeneity of unilateral facial spasms and to focus on clinical characteristics of mimickers of hemifacial spasm and on atypical presentations of nonvascular cases. In addition to a comprehensive review of the literature on hemifacial spasm, medical records and videos of consecutive patients referred to the Movement Disorders Clinic at Baylor College of Medicine for hemifacial spasm between 2000 and 2010 were reviewed, and videos of illustrative cases were edited. Among 215 patients referred for evaluation of hemifacial spasm, 133 (62%) were classified as primary or idiopathic hemifacial spasm (presumably caused by vascular compression of the ipsilateral facial nerve), and 4 (2%) had hereditary hemifacial spasm. Secondary causes were found in 40 patients (19%) and included Bell's palsy (n=23, 11%), facial nerve injury (n=13, 6%), demyelination (n=2), and brain vascular insults (n=2). There were an additional 38 patients (18%) with hemifacial spasm mimickers classified as psychogenic, tics, dystonia, myoclonus, and hemimasticatory spasm. We concluded that although most cases of hemifacial spasm are idiopathic and probably caused by vascular compression of the facial nerve, other etiologies should be considered in the differential diagnosis, particularly if there are atypical features.

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    • "Hemifacial spasm (HFS) due to vascular loop compression of the seventh cranial nerve at the root exit zone at the cerebellopontine angle has been well documented [1]. HFS is characterized by unilateral clonic twitching, initially affecting the orbicularis oculi muscle then progressing to the paranasal and perioral muscles [2]. "
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    ABSTRACT: We report an unusual case of facial pain and swelling caused by compression of the facial and vestibulocochlear cranial nerves due to the tortuous course of a branch of the posterior inferior cerebellar artery. Although anterior inferior cerebellar artery compression has been well documented in the literature, compression caused by the posterior inferior cerebellar artery is rare. This case provided a diagnostic dilemma, requiring expertise from a number of specialties, and proved to be a learning point to clinicians from a variety of backgrounds. We describe the case in detail and discuss the differential diagnoses. A 57-year-old Caucasian woman with a background of mild connective tissue disease presented to our rheumatologist with intermittent left-sided facial pain and swelling, accompanied by hearing loss in her left ear. An autoimmune screen was negative and a Schirmer's test was normal. Her erythrocyte sedimentation rate was 6mm/h (normal range: 1 to 20mm/h) and her immunoglobulin G and A levels were mildly elevated. A vascular loop protocol magnetic resonance imaging scan showed a loop of her posterior inferior cerebellar artery taking a long course around the seventh and eighth cranial nerves into the meatus and back, resulting in compression of her seventh and eighth cranial nerves. Our patient underwent microvascular decompression, after which her symptoms completely resolved. Hemifacial spasm is characterized by unilateral clonic twitching, although our patient presented with more unusual symptoms of pain and swelling. Onset of symptoms is mostly in middle age and women are more commonly affected. Differential diagnoses include trigeminal neuralgia, temporomandibular joint dysfunction, salivary gland pathology and migrainous headache. Botulinum toxin injection is recognized as an effective treatment option for primary hemifacial spasm. Microvascular decompression is a relatively safe procedure with a high success rate. Although a rare pathology, posterior inferior cerebellar artery compression causing facial pain, swelling and hearing loss should be considered as a differential diagnosis in similar cases.
    Full-text · Article · Mar 2014 · Journal of Medical Case Reports
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    • "Other genetic susceptibilities, such as increased excitability of the brainstem or vulnerability to minor cranial nerve damage, may play a key role in the development of HFS. Unfortunately, to the best of current knowledge, there is no known genetic factor associated with HFS7,22). "
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    ABSTRACT: The purpose of this study was to evaluate the characteristics and surgical outcomes of familial hemifacial spasm (HFS) and to discuss the role of genetic susceptibility. Between 2001 and 2011, 20 familial HFS patients with ten different pedigrees visited our hospital. The data from comprehensive evaluation of these patients, including clinical, radiological and electrophysiological data and surgical outcomes were reviewed to characterize familial HFS and to compare the characteristics between familial HFS and sporadic HFS. According to the family tree, the inheritance pattern was difficult to define clearly using these data. Radiologic findings suggested that the vertebral artery (VA) was a more frequent offender in familial HFS than in sporadic cases (35.0% vs. 10.0%, p<0.001). Chi-square test showed that there were no correlation between VA tortuosity and underlying morbidity such as diabetes or hypertension (p=0.391). Eighteen out of 19 patients who underwent microvascular decompression showed no residual spasm. Other features of familial HFS overlap with sporadic cases. These findings suggest that certain genetic susceptibilities rather than hypertension or diabetes may influence vascular tortuosity and HFS development. In this study, familial HFS seems not so different from sporadic cases. Authors thought familial HFS could have heterogeneous etiology. Further study of familial HFS including clinical, anatomic, genetic, and molecular information may help identify a gene or trait that can provide insight into the mechanisms of sporadic and familial HFS.
    Full-text · Article · Jan 2013 · Journal of Korean Neurosurgical Society
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    • "Hemifacial spasm (HFS) is a neuromuscular disorder characterized by frequent, involuntary facial muscle contractions that cause physical discomfort and embarrassment, and impair the life quality . Although there are many different etiologies such as Bell's palsy, facial nerve injury, demyelinating lesions and hereditary [18], it's generally accepted that the major etiology of hemifacial spasm is vascular compression of the seventh cranial nerve (the facial nerve, Fig. 1A) at its root exit zone (REZ) [2] [6]. The compression is caused by offending vessels, such as the anterior inferior cerebellar artery, posterior inferior cerebellar artery, and Abbreviations: AMR, abnormal muscle response; ZLR, Z-L response; ECA, external carotid artery; EMG, electromyogram; HFS, hemifacial spasm; MVD, microvascular decompression; REZ, root exit zone. "
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    ABSTRACT: The pathophysiologic basis of hemifacial spasm is abnormal cross-transmission between facial nerve fibers. The author hypothesized that the demyelinated facial nerve fibers were connected with the sympathetic nerve fibers on the offending artery wall, and thus the latter function as a bridge in the cross-transmission circuit. This hypothesis was tested using a rat model of hemifacial spasm. A facial muscle response was recorded while the offending artery wall was electrically stimulated. The nerve fibers on the offending artery wall were blocked with lidocaine, or the superior cervical ganglion, which innervates the offending artery, was resected, and meanwhile the abnormal muscle response was monitored and analyzed. A waveform was recorded from the facial muscle when the offending artery wall was stimulated, named as "Z-L response". The latency of Z-L response was different from that of abnormal muscle response. When the nerve fibers on the offending artery wall were blocked by lidocaine, the abnormal muscle response disappeared gradually and recovered in 2h. The abnormal muscle response disappeared permanently after the sympathetic ganglion was resected. Our findings indicate that cross-transmission between the facial nerve fibers is bridged by the nerve fibers on the offending artery wall, probably sympathetic nerve fibers.
    Preview · Article · Apr 2012 · Neuroscience Letters
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