Parkinsonism and Related Disorders xxx (2014) 1e2
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Facial tremor in dystonia Roberto Erro a, b, c, *, Maria Stamelou a, d, e, Tabish A. Saifee a, Christos Ganos a, f, g, Elena Antelmi a, Bettina Balint a, Carla Cordivari b, Kailash P. Bhatia a a
Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, London, United Kingdom Department of Clinical Neurophysiology, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom c di Verona, Italy Dipartimento di Scienze Neurologiche e del Movimento, Universita d Second Department of Neurology, Kapodistrian University of Athens, Greece e Neurology Clinic, Philipps University, Marburg, Germany f University Medical Center Hamburg-Eppendorf (UKE), Neurology, Hamburg, Germany g Department of Paediatric and Adult Movement Disorders and Neuropsychiatry, Institute of Neurogenetics, University of Lübeck, Lübeck, Germany b
a r t i c l e i n f o
a b s t r a c t
Article history: Received 13 March 2014 Received in revised form 27 April 2014 Accepted 29 April 2014 Available online xxx
Background: Tremor of the upper/middle part of the face, including the perinasal region and the forehead has been very rarely described in some patients with Parkinson's disease or Essential Tremor. It has not yet been reported in patients with idiopathic dystonia. Methods: We describe here a series of 8 patients with common forms of idiopathic focal/segmental dystonia with tremor involving the upper/middle part of the face, along with demonstrative videos and electrophysiological recordings. Results: The distribution of the tremor was confined to the face in two patients, whereas in six patients tremor was also evident either in the head/lower part of the face or in their upper limbs. Electrophysiological recordings disclosed a slightly irregular tremor with a frequency at about 3e5 Hz. Conclusions: A number of patients with classical forms of dystonia can show a tremor involving the upper/middle part of the face. © 2014 Elsevier Ltd. All rights reserved.
Keywords: Facial tremor Jaw tremor Tremor of the face Dystonia Dystonic tremor
1. Introduction Facial movement disorders include tics, dystonia, hemifacial spasm, tardive dyskinesia, chorea, myorrhythmia, myoclonus, myokymia, geniospasm and tremor. Among the hyperkinesias of the face, tremor is one of the less frequent. Tremor occurring in the face usually involves the oro-mandibular region (chin, jaw and/or tongue) [1]. Classical sub-classification of tremor into resting, postural, and action tremors is difficult to apply to the face. Therefore, Silverdale and colleagues have proposed a different classification, referring, however, only to orolingual tremors [1] e.g. tremors of the jaw, tongue, pharynx, and/or lower face [1]. Tremor of the upper/middle part of the face, including the perinasal region and the forehead has escaped their classification and less than ten patients with such kind of tremor have been reported to date [2e5]. Here we describe, along with demonstrative videos and
* Corresponding author. UCL Institute of Neurology, 7 Queen Square, London WC1N 3BG, United Kingdom. Tel.: þ44 203 448 8723; fax: þ44 207 419 1860. E-mail address:
[email protected] (R. Erro).
electrophysiological recordings, a series of 8 patients with idiopathic dystonia, who have a tremor of the upper/middle part of their face. 2. Patients and methods A total of 8 patients, collected in the outpatient clinic of one of the authors (KPB) were included. Demographic and clinical characteristics, along with representative video and electrophysiological recording where available, were retrospectively collected. This study is based solely on information and investigations that are carried out as part of the routine clinical care of the patients. As such, our institution does not require ethical approval. All patients included had signed a written consent form in line with the data protection act 1998, permitting publication of their videorecordings. In this report we defined as upper/middle face the area from the forehead to the upper lip, thus excluding the jaw and the chin (lower face).
3. Results Demographic and clinical features of our patients are listed in Table 1. Of 8 patients, 7 were female. Mean age was 70.3 ± 4.9 years, and mean disease duration was 18.5 ± 14.4 years. For all patients but two (75%), the first symptom for which they sought medical attention was dystonia. The other 2 patients first became aware of their tremor and further developed dystonia. Tremor of the face
http://dx.doi.org/10.1016/j.parkreldis.2014.04.029 1353-8020/© 2014 Elsevier Ltd. All rights reserved.
Please cite this article in press as: Erro R, et al., Facial tremor in dystonia, Parkinsonism and Related Disorders (2014), http://dx.doi.org/10.1016/ j.parkreldis.2014.04.029
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R. Erro et al. / Parkinsonism and Related Disorders xxx (2014) 1e2
Table 1 Demographic and clinical features in our patients (F: female; M: male; y: years). Case, sex
Age
Age at onset (disease duration)
Follow-up
Classification of dystonia
Tremor of the upper face
Tremor of the lower face
Tremor in other body regions
1, F 2, F
69 y 74 y
Late childhood (>50) 53 y (21)
21 y 7y
Segmental (neck, arm) Segmental (jaw, vocal cords)
e Jaw
Head, arms Arms
3, F 4, F
77 y 75 y
65 y (12) 70 y (5)
6y 2y
e Chin, jaw
Arms e
5, 6, 7, 8,
62 66 69 72
40 56 61 51
Segmental (neck, arm) Segmental (neck, vocal cords, jaw, arms) Focal (neck) Segmental (neck, vocal cords) Focal (vocal cords) Focal (neck)
Upper lip, perinasal region Upper lip, perinasal region, eyebrow Upper lip Perinasal region Eyebrow Eyebrow Upper lip Eyebrow
e e Chin e
e Arms Arms e
M F F F
y y y y
y y y y
(22) (10) (7) (21)
17 6 2 16
y y y y
involved the upper part (eyebrow) in 4 patients and the middle part (perinasal region and upper lip) in 5 patients (video). In three patients, tremor was also present in the jaw, whereas 5 patients (including two of those with jaw tremor) had tremor also in their head and/or upper limbs. For four patients, electrophysiological recordings were available and disclosed a slightly irregular tremor with a frequency varying between 3 and 5 Hz. Coherence between facial and limb tremor at tremor frequency did not meet the 0.05 level of significance. Supplementary video related to this article can be found at http://dx.doi.org/10.1016/j.parkreldis.2014.04.029.
[1]. In our series, the majority of patients presented with additional chin/jaw tremor and also tremor affecting the head and/or the upper limbs. However, in at least 2 patients (25%), tremor of the upper/middle part of the face was isolated. Facial tremor appeared to be a late feature during the course of the disease in our patients. However, in a minority, it was the first symptom for which they sought medical care. We wish to highlight that a number of patients with classical forms of dystonia can show a tremor involving the upper/middle part of the face and, therefore, a suspicion of dystonia should be raised when dealing with a patient with facial tremor, with or without other signs.
4. Discussion
Financial disclosures
Here we report a series of 8 patients with a clinical diagnosis of idiopathic dystonia and with tremor of the upper/middle part of their face. Tremor involving such regions of the face has been very rarely described. Jacome has reported one patient with tremor when smiling and for whom an etiological diagnosis could not be reached [2]. Similarly, Schwingenschuh described two patients with tremor of their face on smiling. One patient additionally suffered from Parkinson's disease, whereas the other had isolated tremor [3]. Regards forehead tremor, one patient diagnosed with Essential Tremor (ET) has been reported [4]. Interestingly, the combination of irregular tremor, low tremor frequency, and co-contraction of antagonistic muscle groups with mixed short and long duration bursts on electrophysiology led the authors to conclude that the forehead tremor was dystonic [4]. A further 4 patients with ET and forehead tremor have been described. However, all these patients had features which render their ET diagnosis very questionable such as prominence of head and rest tremor with possible dystonic movements of the forehead in one, intention tremor with head tremor in another, complete absence of limb tremor with onset of voice tremor and ‘oromandibular movements’ in yet another and finally a jerky tremor in the case presented with a video [5]. In patients with ET, facial tremor is in fact quite uncommon. In a series of 350 patients with ET seen at a tertiary referral clinic, sites of tremor included the jaw in about 7% of cases, and the face in only 2.9% [6]. On the other hand, in a population-based study of 175 ET cases in Papua New Guinea, the authors specifically reported that muscles of the upper face (frontalis and periorbital muscles) were not involved in any cases [7]. To our knowledge, tremor of the upper/middle part of the face has never been described in patients with idiopathic dystonia. In our patients, the clinical diagnosis of dystonia was reached according to established clinical criteria [8] and the electrophysiological features of the tremor were also consistent with this diagnosis. Patients with dystonia can commonly have tremor affecting their head [9] but only a minority have tremor of the jaw
MS receives academic research support from the Kapodistrian University of Athens reference: KA 70/3/11679 and the European Union (MIS 377206), and travel and speaker honoraria from Actelion Pharmaceuticals. CG: Academic research support: Deutsche Forschungsgemeinschaft (MU1692/2-1 and GA 2031/1-1) and European Science Foundation; Commercial research support: travel grants by Actelion Pharmaceuticals, Ipsen, Pharm Allergan and Merz Pharmaceuticals. KPB receives royalties from publication of Oxford Specialist Handbook of Parkinson's Disease and Other Movement Disorders (Oxford University Press, 2008) and of Marsden's Book of Movement Disorders (Oxford University Press, 2012). He received funding for travel from GlaxoSmithKline, Orion Corporation, Ipsen, and Merz Pharmaceuticals. All other authors have no disclosures. References [1] Silverdale MA, Schneider SA, Bhatia KP, Lang AE. The spectrum of orolingual tremorda proposed classification system. Mov Disord 2008 Jan 30;23(2): 159e67. [2] Jacome DE, Yanez GF. Tremors of the smile. J Neurol Neurosurg Psychiatry 1987 Apr;50(4):489e90. [3] Schwingenschuh P, Cordivari C, Czerny J, Esposito M, Bhatia KP. Tremor on smiling. Mov Disord 2009 Jul 30;24(10):1542e5. [4] Piboolnurak P, Pullman SL, Louis ED. Unusual forehead tremor in a patient with essential tremor. Mov Disord 2004 Jul;19(7):842e4. n-Bayarri J, Campdelacreu J, Calopa M, Jauma S, Bau L, Povedano M, et al. [5] Gasco Unusual forehead tremor in four patients with essential tremor. Case Rep Neurol Med; 2012:278140. http://dx.doi.org/10.1155/2012/278140. [6] Lou JS, Jankovic J. Essential tremor: clinical correlates in 350 patients. Neurology 1991;41(Pt 1):234e8. [7] Hornabrook RW, Nagurney JT. Essential tremor in Papua, New Guinea. Brain 1976;99:659e67. [8] Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, et al. Phenomenology and classification of dystonia: a consensus update. Mov Disord 2013 Jun 15;28(7):863e73. [9] Erro R, Rubio-Agusti I, Saifee TA, Cordivari C, Ganos C, Batla A, et al. Rest and other types of tremor in adult-onset primary dystonia. J Neurol Neurosurg Psychiatry; 2013. http://dx.doi.org/10.1136/jnnp-2013-305876.
Please cite this article in press as: Erro R, et al., Facial tremor in dystonia, Parkinsonism and Related Disorders (2014), http://dx.doi.org/10.1016/ j.parkreldis.2014.04.029
