Cervical dystonia: Clinical findings and associated movement disorders Joseph Jankovic, MD; Stuart Leder, MD; Dhyanne Warner, PhD, MD; and Kenneth Schwartz, PA

Article abstract-We studied 300 patients, 61% women, with mean age 49.7 years and mean duration of dystonia 7.8 years, to determine the demographic and clinical characteristics of cervical dystonia (CD) and its relationships to other movement disorders. Torticollis was present in 82%, laterocollis in 42%, retrocollis in 29%, and anterocollis in 25%; however, the majority (66%) had a combination of these abnormal postures. Scoliosis was present in 39%, local pain reported by 68%, and 32% had evidence of secondary cervical radiculopathy. In addition to CD, 16% of patients had oral dystonia, 12% mandibular dystonia, 10% hand/arm dystonia, and 10% had blepharospasm. Tremor was noted in 71% of patients; head-neck tremor was present in 60%, and tremor in other body regions was present in 32%. A family history of a movement disorder was present in 44% of the CD patients. Tardive dystonia was the cause in 6%; 11%had posttraumatic dystonia. Anticholinergic drugs provided moderate improvement in 33% of patients, but local intramuscular botulinum toxin injections relieved CD, local pain, or both in over 90% of all treated patients. NEUROLOGY 1991;41:1088-1091

Cervical dystonia (CD) is a focal dystonia characterized by sustained, involuntary contractions of the neck muscles that result in abnormal movements and postures of the head.’ The term “spasmodic torticollis” is commonly used to describe this form of dystonia. However, since it is not always spasmodic and it does not always consist of torticollis, we prefer the term “cervical dystonia“ as a generic descriptor of dystonic movements or postures involving the neck. Categorized as a focal dystonia, CD is often associated with other movement disorders, particularly tremor.*-*Although CD is a common movement disorder, the clinical features and natural history have not been fully described. The large and comprehensive database of our patients with CD is uniquely suited to address important questions regarding demographic correlates, associated neurologic disorders,family history, and effects of therapeutic interventions. The primary purpose of this study is to characterize the clinical findings in a large cohort of patients with CD and to explore possible relationships between this focal dystonia and other movement disorders. Methods. We reviewed the medical records of 321consecutive patients diagnosed in the Baylor College of Medicine Movement Disorders Clinic during the 1979-1989 period as having CD. After excluding all patients with an identifiable cause for their dystonia, such as Wilson’s disease, neurodegenerative disorders,and severe head trauma associated with evidence of brain injury, 300 patients remained in the database and constituted the study population. All patients were examined by one neurologist (J.J.),and 207 were videotaped.

Dystonic tremor of the head-neck region was defined as a tremor that increased in amplitude as the patient resisted the force of the primary contracting muscles. Essential tremor of the head-neck region was characterized by persistent head oscillation irrespective of head position. Since there was no other method that could reliably differentiate between the two types of head-neck tremor, we used these clinical criteria in assigning patients to one or the other category, or a combination. Postural tremor in the hands, voice, and trunk was classified as essential tremor. Response to therapeutic interventions was based on a combination of the patient’s and one of the investigator’s (J.J.)global impression and was rated as follows: 0 = no improvement, 1 = slight, 2 = moderate, 3 = marked, and 4 = outstanding improvement.

Results. In this population of 300 patients with CD, 92% were right-handed and the female-to-male ratio was 1.5. The average age at onset for CD was 41.8 years (range, 9 to 74); more than one-half had onset in the fourth and fifth decades (figure). The average duration of CD prior to initial evaluation was 7.8 years, and the patients were followed on the average 1.3 years (0 to 9). Pulling in the neck was the presenting symptom in over one-half (59%) of these patients; other presenting symptoms included tremor (14%),pain (17%), jerking (ll%),stiffness/tightness (7%), or a combination of any two of these symptoms (18%). Of 205 patients with adequate occupational history, 48 (23%) were unemployed because of CD-related disability. The average number of physicians consulted by the patients for neck symptoms prior to their first visit at

From the Parkinson’s Disease Center and Movement Disorders Clinic, Department of Neurology, Bayior College of Medicine, Houston, TX. Supportedin part by a grant from the Cullen Foundation. Presented in part at the 42nd annual meeting of the American Academy of Neurology, Miami Beach, FL, May 1990. Received November 30,1990. Accepted for publication in final form December 28,1990. Address correspondenceand reprint requests to Dr. Joseph Jankovic, Professor of Neurology, Department of Neurology, Baylor College of Medicine, 6550 Fannin # 1801, Houston, TX 77030. 1088 NEUROLOGY 41 July 1991

Table 1. Body parts affected by dystonia 9: PATIENTS

40

Onset (%)

Maximum (%)

30

30 -

20 -

1

2

3

4

5

6

7

DECADE OF LIFE

Figure. Distribution of age at onset in 300 patients with cervical dystonia.

Baylor’s Movement Disorders Clinic was 6.8 (range, 1to 75). Of 87 patients initially misdiagnosed, 37% were thought to have arthritis or other vertebral abnormalities, a psychiatric cause (24%), Parkinson’s disease (9%),temporal mandibular joint syndrome (9%),and other miscellaneous conditions (21%). The predominant muscles involved included the sternocleidomastoid (78%), trapezius (67%),splenius (57%),scalenus (8%), andplatysma (6%).There was no predilection for either the right or the left side. Torticollis (rotation in the horizontal plane) was the most common type of CD, present in 82% of all patients, laterocollis (tilt in a coronal plane toward one shoulder) was present in 42%,retrocollis (neck extension) in 29%, and anterocollis (neck flexion) in 25%.Two-thirds had a combination of these abnormal positions. Elevation of one of the shoulders was noted in 54% of patients, and 39% had scoliosis. In addition to the neck area, other body parts were frequently affected; 16%had oral, 12% facial, and 12% had mandibular dystonia (table 1). A variety of factors were found to influence CD. Exacerbation of symptoms was noted with stress in 68% of patients, activity in 35%,and fatigue in 23%.Relief of symptoms could be accomplished with sensory tricks (eg, touching occiput, chin, face) in 76% of patients, with alcohol in 13%,and relaxation in 10%.Over twothirds of all patients had pain associated with CD symptoms; 68%noted local pain, 31%had radiatingpain, and 25% noted “neck tightness” (table 2). Of 272 patients with complete information about tremor, 71%had tremor; 60%had associated head-neck tremor, and 27%had hand tremor phenomenologically identical to essential tremor. In 9.2%of patients, headneck tremor was the initial symptom of CD. In 37%,the head-neck tremor was categorized as “dystonic,” in 30%“essential,” and 8%had a combination of essential and dystonic tremor. One-third of all patients had tremor outside the head-neck region; 23%had postural (essential) hand tremor, 5%had trunk tremor, and 4% had tremor involving the voice, lips, or legs. Estimated tremor frequency ranged from 3 to 10 Hz (mean, 6.9 k 1.7), and the average tremor severity was 1.9 k 0.6 (range, 0.5 to 4). Of the 39% of CD patients with a family history of tremor, 81%had a family member with presumed essential tremor. A family history of some

Cervical Blepharospasm Oral Facial Mandibular Lingual Palatopharyngeal Spasmodic dysphonia Trunk Armband Leglfoot Respiratory

258 (86.0) 9 (3.0) 5 (1.7) 6 (2.0) 7 (2.3) 0 (0.0) 1 (0.3) 1 (0.3) 1 (0.3) 15 (5.0) 1 (0.3) 1 (0.3)

300 30 49 36 36 7 6 20 20 30 7 2

(100.0) (10.0) (16.3) (12.0) (12.0) (2.3) (2.0) (6.7) (6.7) (10.0) (2.3) (0.7)

type of movement disorder was noted in 44% of patients, 12%had a relative with CD, 8%reported another type of familial dystonia, and 32% had relatives with essential-type tremor. A total of 11% of patients had a history of neck trauma severe enough to require medical attention (but no surgery) within 1 year prior to the onset of CD. Another 6% of patients were exposed to neuroleptics within 3 months prior to the onset of CD and therefore could have had tardive dystonia. Improvement (rating 2 to 4) with medical therapy was noted in 79% of patients and worsening in 8%. Botulinum toxin injections were the most effective treatment, found to be of some benefit in over 90% of treated patients. This was followed by monoaminedepleting drugs (reserpine and tetrabenazine), anticholinergics, and benzodiazepines. Forty patients were treated surgically, with improvement reported in fifteen.

Discussion. Since we are a referral center, our patients may be more severe and perhaps more atypical as compared with the general population of CD patients. The clinical characteristics of our patients, however, are probably similar to those seen in CD patients in other movement disorders clinics. The age at onset in our patients, primarily in the fourth and fifth decades, is similar to that reported in other Our observation that women outnumber men at a ratio of three to two is consistent with most, but not all,9J2J4studies. Variable presentation and poor recognition of the full clinical spectrum are probably the main reasons why CD is often misdiagnosed. In the early stages, patients and physicians may attribute the symptoms to “wry neck” or simple “neck strain.’’ The patients frequently complain of uncomfortable “pulling” or “drawing” in the neck, experienced at onset by 59% of our patients and during the course of the illness in 68%. This is usually associated with or followed by involuntary clonic (spasmodic) or tonic turning (82%),tilting (42%),extending (29%),or flexing (25%)movements of the neck. The majority of our patients, however, had a combination of these abnormal postures. In a third of the patients, dystonia affected extra-nuchal areas (table 1). The frequent association with other dystonias is July 1991NEUROLOGY 41 1089

Table 2. Associated disorders

because tremor of the head precedes the onset of dystonia, the tremor may be an initial manifestation of focal dystonia. However, postural tremor pheSymptom No. 70 nomenologically (and pharmacologically) identical to Pain 203 67.7 essential tremor was present in our CD patients not 139 68.5 Local only in anatomic areas affected by dystonia, but also in 64 31.5 Radicular areas without clinically evident dystonia. Furthermore, Tremor* 194 71.3 there was an unexpectedly high frequency of tremor in 164 60.3 Head-neck tremor* relatives of patients with dystonia. Our study, thereLimb/trunk/voice tremor* 88 32.3 fore, provides evidence that familial essential tremor is Psychiatric disorders 58 19.3 frequently associated with dystonia and that the two 18 65.5 Depression disorders may be pathogenically related. 12 20.7 Anxiety The frequent occurence of essential tremor in family 7 12.1 Bipolar 2 3.4 Personality disorder members of patients with CD (one-third of our patients) suggests not only a link between CD and familial * Based on 272 patients who had complete information about tremor. essential tremor, but also provides support for the important role of genetic factors in the pathogenesis of CD. While the majority of our patients had a sporadic form of CD, 9% had relatives with CD and an additional probably the strongest evidence that torticollis represents a form of focal dystonia. 7%had family members with other forms of dystonia. A Most patients report deterioration during the initial total of 132 (44%)patients had a family history of some disorder. 5 years, and then thasymptoms tend to s t a b i l i ~ e . ~ J ~ Jmovement ~ In addition to primary (idiopathic or familial) CD, Although spontaneous remissions may occur in up to a quarter of patients, particularly in the young and within approximately 15% of our patients may have had secthe first year after onset, the symptoms eventually recur ondary forms of CD. In 11% of all patients, CD develin nearly all.8-14Because of the retrospective nature of oped within 1year after trauma to the neck. Although acute neck extension-flexion (whiplash) injuries are our study, it was difficult to determine the frequency of common, only few are followed by CD.19This sequela, spontaneous remissions. However, none of our patients remitted without some therapeutic intervention. With however, may develop in genetically or otherwise preprogression of the disorder, complications such as condisposed individuals.20 Causal relationship between cervical cord or root injury and subsequent CD may be tractures, radiculopathies, and myelopathy may deve10p.l~ difficult to establish with certainty; it is possible, howAlthough we did not formally perform personality ever, that at least some patients thought to have “idioscreening, in contrast to some earlier studies, we found pathic” CD have trauma-induced CD. Trauma is no evidence that CD was of psychogenic origin or that increasingly becoming recognized as an important the “basic personality pattern was a b n ~ r m a l . ”In~ twoAnother possible cause of dystonias other than CD.20-22 thirds of the patients, stress appeared to exacerbate the cause of secondary CD, seen in 6% of our patients, is tardive d y ~ t o n i a .While ~ ~ , ~dystonia ~ in patients previdystonia, and many reported that other factors such as ously treated with neuroleptics is often attributed to the activity and fatigue worsened symptoms. Three quardopamine receptor blocking effect of the drug, as in ters of patients used sensory tricks to ameliorate CD, posttraumatic dystonia, cause and effect is not always while alcohol and relaxation techniques were reported to relieve symptoms for others. Nearly all patients reeasy to establish. port resolution of their spasms during sleep, but in some With the exception of genetic predisposition and a the abnormal postures persist, possibly because of assopossible role of trauma and drugs, no other clues as to ciated secondary c o n t r a c t ~ r e s . * ~ + ~ ~ the underlying pathogenesis of CD have emerged from The frequent association of dystonia with tremor has this study. In one case of CD studied at autopsy, no been recognized, but not systematically studied. Our .~~ brain or spinal cord pathology was d e m ~ n s t r a t e d A finding that head-neck tremor is associated with CD in functional, genetically determined, abnormality in the 60% of cases and that 32% of CD patients have postural basal ganglia has been suggested as the underlying tremor in other body parts provides strong support for mechanism for CD and other types of dystonia in most some genetic or physiologic relationship between CD patients.1p26Studies of the vestibuloocular reflex and and essential tremor. Tremor was previously reported vestibular symptoms have suggested that the brainstem in 26 of 30 with CD2 and in 33 of 100 patients with or other sensory-motor mechanisms controlling head cranial-cervical d y ~ t o n i a Conversely, .~ dystonia has posture may also play a role in the pathogenesis of CD.2728 been reported in 12%to 47% of patients with essential t r e m ~ r .There ~ . ~ are many reasons for this wide variWith the advent of effective therapy, specifically ability in frequency of associated tremor such as a lack botulinum toxin i n j e c t i ~ n s , ~the ~ - ~natural l course of of agreement on the definition of essential tremor. If CD has been dramatically altered. Of the various treatessential tremor is defined as a “monosymptomatic” ments, botulinum toxin clearly provided the most benedisorder, then postural tremor seen in patients with fit. The majority of our patients, however, were also dystonia cannot be, according to this definition, classitreated with some oral medications prior to botulinum fied as “essential.” Rivest and Marsdenla proposed that, toxin. It was difficult to determine retrospectively 1090 NEUROLOGY 41 July 1991

which drugs were most effective, but reserpine, trihexyphenidyl, and alprazolam appeared to be particularly beneficial. LaP2 has reviewed the effects of pharmacotherapy on CD. Besides pharmacologic therapy, specially constructed cervical braces helped some patients to maintain a desired position and to serve as a substitute for a “geste-antagonistique,” “counSome patients also terpressure,” or “sensory found various muscle relaxation techniques and sensory feedback therapy Forty eventually required surgery, consisting of selective cervical rhizotomy with or without myotomy. While 10% of the patients noted worsening after the surgery, 38%experienced a noticeable improvement in the ability to control their head position or a reduction in their pain. We believe that this largest series of CD patients provides data that can be useful not only in characterizing the clinical features of this frequently disabling disorder, but also in formulating hypotheses about the mechanisms of CD. Any theory about the pathogenesis of idiopathic CD must take into account the middle age at onset, female preponderance, variable progression, association with tremor, the frequent family history of tremor and dystonia, and the variable response to pharmacologic treatments.

Addendum. A series of 266 patients with cervical dystonia has been reported since the submission of our paper.35 The clinical characteristics of those patients are nearly identical to those noted in our series: mean age at onset 41 years (70% between 30 and 59 years), 1.9 :1 female preponderance, 75% occurrence of pain, and 23% occurrence of hand tremor. In contrast to the 60% prevalence of head tremor in our series, that Columbia University group noted head tremor in only 28%, considered as “dystonic tremor.” Since head tremor is frequently present in patients with essential tremor, it is possible that some of the patients with head tremor in the setting of cervical dystonia also have “essential tremor” of their head. Because dystonic and essential head tremor are sometimes difficult to differentiate, we agree with the authors that genetic linkage studies may be ultimately needed to clarify the relationship between dystonia and tremor.

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Cervical dystonia: Clinical findings and associated movement disorders Joseph Jankovic, Stuart Leder, Dhyanne Warner, et al. Neurology 1991;41;1088 DOI 10.1212/WNL.41.7.1088 This information is current as of July 1, 1991 Updated Information & Services

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Neurology ® is the official journal of the American Academy of Neurology. Published continuously since 1951, it is now a weekly with 48 issues per year. Copyright © 1991 by the American Academy of Neurology. All rights reserved. Print ISSN: 0028-3878. Online ISSN: 1526-632X.

Cervical dystonia: clinical findings and associated movement disorders.

We studied 300 patients, 61% women, with mean age 49.7 years and mean duration of dystonia 7.8 years, to determine the demographic and clinical charac...
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