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Journal of Clinical Neuroscience (2004) 11(2), 142144

0967-5868/$ - see front matter 2003 Elsevier Ltd. All rights reserved.
doi:10.1016/j.jocn.2003.05.005

Clinical study

Diagnosis and misdiagnosis of hemifacial spasm:


a clinical and video study
N.C. Tan1 MD, E.K. Tan2,3 MD, L.W. Khin4 MD
1
SingHealth Polyclinics-Pasir Ris, Singapore, 2Department of Neurology, Singapore General Hospital, Singapore, 3SingHealth Research, Singapore,
4
Clinical Trials & Epidemiology Research Unit, Ministry of Health, Singapore

Summary Early recognition of hemifacial spasm (HFS) is important as it can be effectively treated. 203 family physicians participated in a
video test on HFS. Only 9.4% (19/203) were able to diagnose HFS. 94 (46.3%) of them did not know how to manage the condition. Twenty-
two (10.8%) would use steroids as a treatment and 13 (6.4%) felt no treatment was needed. Only 27 (13.3%) indicated that botulinum toxin
could be employed to treat HFS. The year of graduation of the doctors significantly correlated with a correct diagnosis P < 0:05. The low
positive diagnostic rate (25.7%) of HFS from referrals to the movement disorder clinic corroborated findings from the video test.
2003 Elsevier Ltd. All rights reserved.

INTRODUCTION was televised to these polyclinic doctors and general practitioners.


The two patients had severe HFS (one had left, and the other right
Hemifacial spasm (HFS) is characterized by tonic clonic con-
sided symptoms) which affected their activities of daily living.
tractions of the muscles innervated by the ipsilateral facial
The participants were asked to answer a questionnaire comprising
nerve.14 HFS may rarely be bilateral, manifested by asynchro-
three questions pertaining to the diagnosis or differential diag-
nous contractions of facial muscles on each side.5 Compression of
noses, investigations and appropriate modalities of treatment for
the facial nerve by an ectatic vessel is widely recognized as the
the condition demonstrated on the video. The questions were
most common underlying etiology.612 The average prevalence
open-ended and the doctors could fill in more than one answer to
rate in an American population was determined to be 7.4 per
each question. An option dont know was available to dis-
100,000 in men and 14.5 per 100,000 in women.13 HFS appears to
courage guessing of the answer.
be more common in some Asian populations.
The settings for the screening of the videos included lunch
HFS frequently causes social embarrassment, and affects the
breaks and organized seminars for family physicians over a 6
quality of life. Facial grimacing and contortions are often thought
month period. One of the authors acted as an invigilator for all the
to be a physiologic response in individuals suffering from pain,
sessions to ensure similar conditions were applied. Anonymity
stress, and anxiety.14 Patients with HFS may present their symp-
was maintained, as participating family physicians were not re-
toms first to their family physicians. Since HFS can be effectively
quired to enter their names on the questionnaires to encourage
treated, it is important to recognize the condition early to prevent
truthful answers to the questions. The participation rate was 100%.
any unnecessary suffering. Our study aimed to examine the
The number of years after graduation from medical school was
awareness and knowledge of the diagnosis and management of
taken as a surrogate marker of the seniority of the family physi-
HFS amongst family physicians.
cians. This study received approval by the SingHealth Polyclinics
Ethics Committee.
METHODS
This was a cross-sectional study conducted in two parts:
RESULTS
Part 1: A review of the patients charts in the Movement
Disorder Clinic, Singapore General Hospital over a six month Part 1: The charts of a total of 74 consecutive patients were re-
period. Patients who were referred for compliant of involuntary viewed. The median age of the HFS patients was 53 years (range:
facial spasm and subsequently diagnosed to have HFS by a 2375) with the male: female ratio of 1:1.6. The main source of
movement disorder specialist based on widely accepted clinical referral to the Movement Disorder clinic originated from non-
criteria14 were included. Information on a standard referral form neurologist medical physicians, followed by 29.7% from the
to our clinic were reviewed and tabulated. These included the government polyclinic and 10.8% from the private family physi-
patients age, gender, age of symptom onset, treatment given, cians. The diagnosis of HFS was correctly documented in 25.7%
investigations if any, the provisional and differential diagnosis at (19/74) of all the referrals to the movement disorder clinic, out of
point of referral and the source of these referrals. which 63.2% were from the non-neurologist physicians, 15.8%
Part 2: Family physicians were randomly selected from both each from the government polyclinic and private family physi-
the government and private sectors to participate in this study. A cians respectively. The diagnosis of blepharospasm was re-
video of two patients with characteristic clinical features of HFS corded in 7 (9.5%) of referrals and 6 (8.1%) was that of a tic. 36
(48.7%) of the total referrals did not carry any diagnosis at all.
Part 2: A total of 203 family physicians participated, of
Received 9 January 2003 which 50.2% were from the government polyclinics and 49.8%
Accepted 19 May 2003 were from the private family physicians. The polyclinic doctors
Correspondence to: Eng-King Tan MD, Department of Neurology, Singapore in the study population were generally younger P < 0:0001.
General Hospital, Outram Road, Singapore 169608, Singapore. Only 9.4% (19/203) of the family physician were able to diag-
Tel.: +65-6326-5003; Fax: +65-6220-3321; nose hemifacial spasm after watching the video clip. The
E-mail: gnrtek@sgh.com.sg majority of them (67.3%) gave the wrong diagnosis. 47 (23.2%)

142
Hemifacial spasm 143

Table 1 Diagnosis and management given for hemifacial spasm family physicians combined. The diagnosis of blepharospasm
was recorded in 9.5% of referrals and 8.1% was that of a tic.
Number of doctors (%)
(Total 203)
However, 48.7% of the total referrals did not carry any diagnosis
at all, suggesting that the referring doctor did not know the di-
Diagnosis agnosis.
Tic 77 (37.9) In the second part of our study, we found that less than 10%
Dont know 47 (23.2) of the 203 participating doctors were able to diagnose HFS after
Bells palsy 31 (15.3)
watching a video of two patients with severe HFS. Three-quar-
Hemifacial spasm 19 (9.4)
Blepharospasm 16 (7.9) ters of them (75.3%) gave the wrong diagnosis. Interestingly,
Epilepsy 4 (2) 37.9% diagnosed tic, much higher than the 8.1% in the referral
Myasthenia gravis 4 (2) diagnosis. Bells palsy was also a common diagnosis given
Trigeminal neuralgia 4 (2) (15.3%), presumably from the facial asymmetry caused by the
Hypocalcaemia 1 (0.5)
severe facial twitching. Epilepsy, myasthenia, trigeminal neu-
Investigations ralgia and hypocalcaemia were given by 6.5% of the partici-
Dont know 94 (46.3) pants. 23.2% of them indicated that they did not know the
No need for investigation 27 (13.3)
Blood electrolytes and calcium 22 (10.8)
diagnosis. Only about one sixth of doctors recognized the rele-
CT scan brain 21 (10.3) vance of brain imaging as an investigation required for the
Electromyography 19 (9.4) condition. A substantial proportion (46.3%) was not aware of
Nerve conduction study 13 (6.4) the need of any investigation for this condition. Almost 40% of
Magnetic resonance imaging 7 (3.4)
the doctors indicated that they did not know how to manage the
Treatment condition, which was not surprising as a similar number did not
Dont know 93 (45.8) know the diagnosis and treatment. It is alarming to note that
Botulinum toxin 27 (13.3)
more than 10% would use steroids as a treatment in good faith
Steroids 22 (10.8)
Refer/contact a Neurologist for advice 19 (9.4) that the patients had Bells palsy. About 6.4% did not see the
Antiepileptic medications 15 (7.4) need for treatment despite the severity of the clinical signs. Only
(clonazepam, carbamazepine, etc.) 13.3% indicated that botulinum toxin could be employed to treat
No treatment needed 13 (6.4) HFS, Some of them (9.4%) would refer the patients to the
Benzodiazepines (e.g. diazepam) 11 (5.4)
Vitamins (e.g. vitamin B) 3 (1.5)
neurologist for management. None considered surgery as a mo-
dality of treatment.
Based on the number of years of graduation, the government
of them indicated that they did not know the diagnosis (Table 1). doctors who participated in this study were generally younger
28 (13.7%) of doctors recognized the relevance of brain imaging than the private family physicians P < 0:0001. Both groups of
as an investigation required for the condition. 7 (3.4%) indicated doctors were equally represented (about 50% each) in the study.
they would order a MRI/MRA, and 21 (10.3%) would investigate Interestingly, there was no significant difference with regards to
with CT scan. 94 (46.3%) were not aware of any investigations a correct diagnosis of HFS between government and private
required for this condition. Ninety-three (45.8%) of the partici- physicians. However, number of years after graduation of the
pants did not know how to manage the condition. 27 (13.3%) doctors was significantly correlated with a correct diagnosis,
indicated that botulinum toxin could be employed to treat HFS, which meant that the more senior the doctor, the greater the
15 (7.4%) would use anti-epileptic medication, 15 (7.4%) would likelihood he knows more about HFS. This contrasts to the
prescribe a benzodiazepine and 13 (6.4%) would treat conser- findings in a previous study on the reliability of diagnosis among
vatively, and 19 (9.4%) would refer the patient to the neurologist neurologists in the severity assessment of cranial dystonia. In this
for management. There was no significant difference in the study, investigators found that the familiarity with dystonia in-
correct diagnosis rate between government and private family fluenced reliability more than the length of experience in neu-
physicians (9.0% vs 9.5%). However, the number of years after rology.16
graduation was significantly correlated with a correct diagnosis We do not think our findings are unique to our study popula-
of HFS. tion. For instance, five patients with suspected HFS referred to a
large American movement disorder center were later diagnosed
with psychogenic facial spasm.14 Our study highlights two im-
DISCUSSION
portant aspects of diagnosing involuntary facial spasms. First, as
HFS needs to be differentiated from other causes of facial spasms, facial movements are often thought to be a physiologic response
such as facial tic, facial myokymia, blepharospasm, tardive dys- to external stimuli, general physicians who are not familiar with
kinesia, and psychogenic facial spasm.5;15 While the role of im- organic causes of involuntary facial movements may have diffi-
aging in HFS is sometimes debated, one needs to exclude an culty differentiating them from physiologic facial movements.
underlying space occupying lesion in patients with associated Second, specialists need to play a greater role in implementing
atypical features such as facial numbness and weakness. Botu- educational programmes (e.g. using videos as teaching materials)
linum toxin injection is an effective treatment for HFS.4 Hence a to increase the awareness of the common movement disorders in
correct and early diagnosis of HFS will allow institution of ap- the primary care setting. This will reduce misdiagnosis and in-
propriate treatment and prevent unnecessary suffering. This is the appropriate treatment for disorders such as HFS, which can be
first study to examine the awareness and knowledge of HFS effectively treated.
amongst family physicians.
In the first part of our study, the diagnosis of HFS was
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Journal of Clinical Neuroscience (2004) 11(2), 142144 2003 Elsevier Ltd. All rights reserved.

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