DOI: 10.1093/brain/awh262 Brain (2004), 127, 2360–2372

The syndrome of fixed dystonia: an evaluation of103 patients

Anette Schrag,1,2 Michael Trimble,2 Niall Quinn2 and Kailash Bhatia2

Correspondence to: Dr Anette Schrag, University

Department of Clinical Neurosciences, Royal Free and

University College Medical School, London NW3 2PF, UK

E-mail: a.schrag@medsch.ucl.ac.uk

1University Department of Clinical Neurosciences, Royal

Free and University College Medical School and 2Institute

of Neurology, University College London, London, UK

SummaryWe describe the clinical features of 103 patients present-ing with fixed dystonia and report the prospective assess-

ment and investigation of 41 of them. Most patients were

female (84%) and had a young age of onset [mean 29.7 (SD

13.1) years]. A peripheral injury preceded onset in 63%

and spread of dystonia to other body regions occurred in

56%. After an average follow-up of 3.3 years (overall

disease duration 8.6 years), partial (19%) or complete

(8%) remission had occurred in a minority of patients.The fixed postures affected predominantly the limbs

(90%), and rarely the neck/shoulder region (6%) or

jaw (4%). In the prospectively studied group, pain was

present in most patients and was a major complaint in

41%. Twenty percent of patients fulfilled criteria for

Complex Regional Pain Syndrome (CRPS). No consistent

investigational abnormalities were found and no patient

tested (n = 25) had a mutation in the DYT1 gene. Thirty-seven percent of patients fulfilled classification criteria

for documented or clinically established psychogenic

dystonia; 29% fulfilled DSM-IV (Diagnostic and statisticalmanual of mental disorders, 4th edition) criteria for soma-

tization disorder, which was diagnosed only after exam-

ination of the primary care records in many cases; and

24% fulfilled both sets of criteria. Ten percent of the

prospectively studied and 45% of the retrospectively stud-ied patients did not have any evidence of psychogenic

dystonia, and detailed investigation failed to reveal analternative explanation for their clinical presentation.

Detailed, semi-structured neuropsychiatric assessments

in a subgroup of 26 patients with fixed dystonia and in

a control group of 20 patients with classical dystonia

revealed dissociative (42 versus 0%, P = 0.001) and affect-

ive disorders (85 versus 50%, P = 0.01) significantly more

commonly in the fixed dystonia group. Medical and sur-

gical treatment was largely unsuccessful. However, sevenpatients who underwent multidisciplinary treatment,

including physiotherapy and psychotherapy, experienced

partial or complete remission. We conclude that fixed

dystonia usually, but not always, occurs after a peripheral

injury and overlaps with CRPS. Investigations are typic-

ally normal, but many patients fulfil strict criteria for a

somatoform disorder/psychogenic dystonia. In a propor-

tion of patients, however, no conclusive features of soma-toform disorder or psychogenic disorder can be found

and, in these patients, whether this disorder is primarily

neurological or psychiatric remains an open question.

Whilst the prognosis is overall poor, remissions do

occur, particularly in those patients who are willing and

able to undergo multidisciplinary treatment including

physiotherapy and psychotherapy, suggesting that this

type of treatment should be recommended to thesepatients.

Keywords: fixed dystonia; trauma; psychogenic; complex regional pain syndrome

Abbreviations: CRPS = complex regional pain syndrome; DSM-IV = Diagnostic and statistical manual of mental disorders,

4th edition; SCAN = Schedules of Assessment in Neuropsychiatry.

Received November 19, 2003. Revised May 10, 2004. Second revision June 2, 2004. Accepted June 4, 2004.

Advanced Access publication September 1, 2004

IntroductionDystonia is defined as abnormal muscle contractions fre-

quently holding a body part in an abnormal position, often

associated with tremor (Fahn et al., 1998). Primary or

idiopathic dystonia has no identifiable cause although it

can be due to a genetic abnormality (Bressman et al.,

1998), whereas secondary or symptomatic dystonia can result

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from numerous environmental and neurodegenerative causes

(Calne and Lang, 1988). Primary or idiopathic dystonia is

typically mobile, brought on by attempts to move (action

dystonia) and in others by specific tasks (e.g. writing); the

abnormal posture can frequently be overcome by using sen-

sory tricks (gestes antagonistes), e.g. touching the face in

torticollis. Immobile, fixed dystonic postures are not part of

the presentation of primary dystonia until the advanced stages,

and even then are uncommon (Marsden, 1976). Fixed dys-

tonic postures may, however, occur in secondary dystonia, for

example due to acquired basal ganglia lesions or neurodegen-

erative disorders such as corticobasal degeneration. They can

also occur in conditions that can resemble dystonia such as

stiff limb syndrome and abnormal postures due to a mechan-

ical cause (e.g. atlanto-axial dislocation) (Suchowersky and

Calne, 1988). A problematic group of patients develops post-

traumatic fixed dystonia (Jankovic and Van der Linden, 1988;

Tarsy, 1998), which may also be associated with complex

regional pain syndrome (CRPS; Table 1), when it has been

termed causalgia-dystonia syndrome (Bhatia et al., 1993).

The history, clinical examination and appropriate

investigations may reveal the origin of the fixed dystonic

postures in some cases. In a proportion of patients with iso-

lated fixed dystonia, however, no such cause is found and

some believe that this is a form of psychogenic condition

(Lang, 1995). There is ongoing controversy as to whether

isolated fixed dystonia with or without preceding peripheral

injury is due to an organic or psychogenic cause (Goldman

and Ahlskog, 1993; Weiner, 2001; Sa et al., 2003).

To date, only small series of cases of fixed dystonia, with or

without preceding peripheral injury, have been published and

the clinical features, associated comorbidity and risk factors

underlying this syndrome have not been delineated. We there-

fore undertook a study to describe the clinical characteristics

of a large number of patients with fixed dystonia without

evidence of basal ganglia lesions or a progressive neuro-

degenerative disorder, and to study its associated features,

risk factors and psychiatric comorbidity.

Methods

PatientsThe clinical information on all patients with fixed dystonia who had

been seen previously by the authors (or the late Professor David

Marsden) was extracted from their medical records. Fixed dystonia

was defined as immobile dystonic postures that did not return to the

neutral position at rest; patients with fixed dystonia due to an iden-

tifiable cause or fixed dystonia in the context of advanced generalized

dystonia or parkinsonism were excluded. Eighty-eight patients seen

between 1981 and 1999 were identified. Of these we chose to contact

46 patients who had been seen more recently (1989–1999), 31 of

whom (67%) agreed to be reviewed. Three of these 31 were subse-

quently not able to participate and another reported the symptoms

had resolved spontaneously. We also saw another 15 patients with

fixed dystonia between 1999 and 2002, of whom 14 agreed to parti-

cipate. Thus, from the overall group of 103 patients whose records we

reviewed (retrospective group), we were able to study 41 subjects

personally for the purpose of this study (henceforth called the pro-

spective group; Fig. 1). Twenty-seven patients who participated in

the prospective part of the study were also invited to participate in a

neuropsychiatric evaluation, which only one patient refused. There

was no difference between participants and non-participants with

regard to gender, age or disease duration.

Twenty patients with classical, mobile dystonia matched for

degree of disability (according to overall clinical judgement and

to the Functional Disability score (Jahanshahi and Marsden, 1990)

(Table 2) were recruited as controls, and also underwent neuropsy-

chiatric assessment. Seven of these had dystonia due to a brain injury

or stroke in the basal ganglia, six due to perinatal injury, three had

childhood onset generalized dystonia due to a mutation in the DYT1

gene, and four had classical cervical dystonia (Fig. 1).

Table 1 Diagnostic criteria for complex regional painsyndrome (IASP/CRPS; Stanton-Hicks et al., 1995)

CRPS type I (reflex sympathetic dystrophy)1. Type I is a syndrome that develops after an initiating

noxious event.2. Spontaneous pain or allodynia/hyperalgesia occurs, which

is not limited to the territory of a single peripheral nerve,and is disproportionate to the inciting event.

3. There is or has been evidence of edema, changes inskin blood flow abnormality or abnormal sudomotoractivity in the region of pain since the inciting event.

4. This diagnosis is excluded by the existence ofconditions that would otherwise account for the degree ofpain and dysfunction.

CRPS type II (causalgia)

1. Type II is a syndrome that develops after a nerve injury.Spontaneous pain or allodynia/hyperalgesia occurs,which is not necessarily limited to the territory of theinjured nerve.

2. There is or has been evidence of edema, changes inskin blood flow abnormality or abnormal sudomotoractivity in the region of pain since the inciting event.

3. This diagnosis is excluded by the existence of conditions thatwould otherwise account for the degree of pain anddysfunction.

Prospective sample Retrospective samplen=41 n=62

Overall samplen=103

Group with StandardisedNeuropsychiatric Assessment

Fixed dystonia Classical dystonian=26 n=20

Fig. 1 Patient samples and study design

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AssessmentFor the prospective assessments, all 41 patients underwent a neuro-

logical examination and semi-structured interview that assessed clin-

ical features, precipitating events, potential risk factors, evolution,

treatment responses and clinical course. Standard investigations for

secondary dystonia (Calne and Lang, 1988) were normal in all

patients; 18 patients had additionally undergone CSF examination,

and genetic tests for mutations in the DYT1 gene were performed in

25 patients. MRI of the brain and spine, nerve conduction studies and

electromyography were performed in all prospectively studied

patients; somatosensory evoked potentials in 22 patients; central

motor conduction time to affected muscles in eight patients; and

in three patients with stimulus-sensitive movements cutaneomu-

scular reflexes were examined.

In 26 patients, a neuropsychiatric assessment was performed by a

neurologist with several years training in neuropsychiatry (A.S.)

using the Schedules of Assessment in Neuropsychiatry (SCAN;

Aboraya et al., 1998). SCAN is a computer-based, comprehensive

and validated psychiatric assessment tool (Brugha et al., 1999),

which is administered by a clinically trained interviewer and includes

a section on medically unexplained symptoms. All symptoms that

gave rise to multiple consultations with doctors, self-medication

and/or change of lifestyle that were not fully explained by any detect-

able organic pathology following appropriate investigations were

recorded. The primary care records were examined in 17 patients

who gave consent; these were used to confirm the results from the

SCAN interview section on medically unexplained symptoms. Six-

teen patients also agreed to be tested using the Structured Assessment

of Personality Disorder. This is a standardized telephone interview,

validated in patients with psychiatric disorders (Pilgrim et al., 1993),

conducted with a person named by the subject who has known them

for at least 5 years. The subjects’ consent was obtained according to

the Declaration of Helsinki and the study was approved by the Joint

Research Ethics Committee of the National Hospital for Neurology

and Neurosurgery and the Institute of Neurology.

Diagnostic criteriaAll psychiatric diagnoses were made according to the Diagnostic and

statistical manual of mental disorders, 4th edition (DSM-IV;

American Psychiatric Association, 1994). Thus, a diagnosis of soma-

tization disorder was based on the DSM-IV criteria of somatization

disorder, which requires a history of at least eight unexplained symp-

toms in four or more body systems with onset before the age of

30 years. A diagnosis of psychogenic dystonia was made according

to the criteria of Fahn and Williams (1988), which classify dystonia

as psychogenic based on degree of certainty into: (i) documented; (ii)

clinically established; (iii) probable; and (iv) possible (Table 3). As

only the first two categories provide a clinically useful degree of

diagnostic certainty, they have been combined to one category of

‘clinically definite’ (Williams et al., 1995). Fixed dystonic postures

are considered incongruent with typical primary dystonia and can be

seen in patients with unequivocal psychogenic dystonia. However, in

order to avoid a circular argument (i.e. a priori presumption of a

diagnosis of psychogenic dystonia), we excluded fixed dystonia and

related pain or sensory symptoms as prima facie evidence of

psychogenic dystonia or somatoform disorder.

Statistical analysisThe majority of data are reported as percentages of the overall total

sample of 103 patients or of the subgroups of 41 prospectively or

62 retrospectively assessed patients, as appropriate. Comparisons

between categorical data were made using x2 or Fisher’s Exact test

(if numbers were small); continuous data were compared using

t-tests if the data were parametric, and Mann–Whitney tests, if

the data were non-parametric.

Table 2 Characteristics of patients with typical dystonia and fixed dystonia who underwent neuropsychiatric assessments

Fixed dystonia Dystonia controls P-value

Female/male 20/6 14/6 nsMean age in years (SD) 39.8 (11.8) 46.3 (14.8) nsMean disease duration before first seen in years (SD) 5.0 (3.2) 14.7 (17.3) 0.008Mean follow-up in years (SD) 4.9 (3.3) 4.9 (3.7) nsMean disability score* (range 0–108) 57.6 (15.7) 51.2 (13.6) nsFamily history of movementdisorder or CRPS type II

7 (27%) 4 (20%) ns

Peripheral or back/neck injury preceding onset 21 (81%) 1 (5%) <0.001Previous episodes of movement disorder 6 (23%) 0 0.03

*As measured by the Functional Disability Scale (Jahanshahi and Marsden, 1990). ns = not significant.

Table 3 Diagnostic criteria for psychogenic dystonia(Fahn and Williams, 1988)

Degree ofdiagnostic certainty

Criteria

Documented* Persistent relief by psychotherapy,suggestion or placebo, or observedwithout the movement disorderwhen ‘unobserved’

Clinically established* Incongruent with classical dystoniaor inconsistent plus otherpsychogenic signs, multiplesomatizations or obvious psychiatricdisturbances

Probable Incongruent or inconsistent ORpsychogenic signs or multiplesomatizations

Possible Evidence of emotional disturbance

*As only the first two categories provide a clinically useful degreeof diagnostic certainty, they have been combined to ‘clinicallydefinite’ (Williams et al., 1995).

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ResultsAmong the total 103 patients, 41 were studied prospectively

and 62 retrospectively. Their demographic and clinical char-

acteristics were comparable (Table 4). Most patients had

already had symptoms for several years before they were

first assessed at our hospital.

Demographics and potential risk factorsIn the prospective group, 83% of patients were female and

mean age of onset was 30.5 (SD 13) years (Table 4). Only

three patients (7%) had onset after the age of 50 years, but

onset in teenage years was not uncommon (seven patients;

17%). No patient reported the use of dopamine receptor block-

ers before onset. Nine (22%) reported a possible family his-

tory of a movement disorder and one of complex regional pain

syndrome (Table 5B; this table is available as supplementary

material at Brain Online). However, none of the 25 patients

tested was positive for the DYT1 mutation. Eight prospect-

ively studied patients (20%) reported a previous episode of a

movement disorder and 17 patients (41%) reported previous

disturbance of the affected limb (Table 5B).

In the retrospective group, the demographic distribution

was similar with 85% female patients with an average age

of onset of 29.2 (SD 13) years. Only five patients (8%) had

developed symptoms after the age of 50 years, but 18 patients

(29%) had onset before age 20 with the youngest at 11 years.

Precipitating eventIn the prospectively studied fixed dystonia group, the onset of

dystonia occurred after an injury in 28 (68%), significantly

more than the 5% in the dystonia control group (P < 0.0001).

The injuries were mainly of soft tissues, but limb overuse,

fractures and operations (mainly for existing pain) were also

reported (Table 5A). Deterioration of dystonia after a further

injury, vigorous manipulation or operation was reported by

ten patients—even if no injury had occurred before the onset

(n = 4). In 15% of patients, dystonia first started or deterio-

rated markedly during or after immobilization in a plaster

cast. In no patient treated with immobilization in a plaster

cast did this result in a lasting improvement of symptoms.

Other symptoms prior to onset included abscesses or sensory

symptoms in the affected limb, back pain or an asthma attack

(Table 5A). A psychological stressor, psychotherapeutic treat-

ment or a severe psychiatric illness with clear temporal rela-

tionship to the onset of dystonia was reported in five patients,

two of whom also reported an injury before onset. In four

patients (10%), no precipitating event could be identified

(Table 5A).

In the retrospectively analysed group, the pattern of injuries

was similar, with injury before onset in 60% (including two

whiplash and one mild head-injury; Table 4), flu-like illness

in two, Bell’s palsy in one, focal paraesthesiae in three,

spontaneous pain in six (including one with a radiculopathy),

psychological trauma in one, and no precipitating event in

19% of patients. In 8% of these patients, dystonia first started

or deteriorated markedly during or after immobilization in a

plaster cast.

Characteristics of dystoniaIn the prospective group, the right side was involved in 51% at

the onset, the left in 44% and both sides in some patients (5%).

The distal limb was more commonly affected (n = 40, 98%)

than the proximal limb (n = 8, 20%), and one patient had fixed

dystonia of the shoulder (Table 4). The dystonia typically

Table 4 Clinical features of the prospectively (n = 41)and retrospectively (n = 62) studied patients and thecombined sample

Prospectivelystudiedpatients

Retrospectivelystudiedpatients

Allpatients

Female 34 (83%) 53 (85%) 87 (84%)Mean age ofonset in yrs (SD)

30.5 (13.0) 29.2 (13.2) 29.7 (13.1)

Mean disease durationbefore first seen(years)

5.2 (3.9) 5.3 (4.7) 5.3 (4.3)

Mean follow-up(years)

3.9 (3.7) 2.9 (2.8) 3.3 (3.7)

OnsetArm(s) 31 (76%) 35 (56%) 66 (64%)Leg(s) 6 (14%) 18 (29%) 24 (23%)Arm(s) and leg(s) 3 (7%) 0 3 (3%)Neck/shoulder 1 (2%) 5 (8%) 6 (6%)Jaw 0 4 (6%) 4 (4%)Right 21 (51%) 24 (39%) 45 (44%)Left 18 (44%) 23 (37%) 41 (40%)Both 2 (5%) 7 (11%) 9 (9%)Axial 0 8 (13%) 8 (8%)

SpreadNone 16 (39%) 30 (48%) 45 (44%)Same limb only 0 7 (11%) 7 (7%)Contralateral limb 6 (15%) 2 (3%) 8 (8%)Ipsilateral limb 5 (12%) 5 (8%) 10 (10%)Generalized 14 (34%) 18 (29%) 32 (31%)

Peripheral orback/neck injurypreceding onset

28 (68%) 37 (60%) 65 (63%)

Features of CRPS 18 (44%) 24 (39%) 42 (41%)Immobilization inplaster precedingdeterioration

6 (15%) 5 (8%) 11 (11%)

Clear history ofsomatization disorder

12 (29%) 11 (18%) 23 (22%)

Psychological stressoror significantpsychiatric disorderat onset

4 (10%) 6 (10%) 10 (10%)

Psychogenic signspresent onexamination

19 (46%) 15 (24%) 34 (33%)

Remission 19 (46%) 10 (16%) 29 (28%)Partial 14 (34%) 6 (10%) 20 (19%)Complete 4 (10%) 4 (6%) 8 (8%)

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Table

5A

Clinicalfeaturesof41prospectively

studiedpatients

withfixeddystonia

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Table

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developed subacutely over days or weeks (Table 5b). The

maximum delay to onset of dystonia in one patient was

1 year. Typically, in initial stages, it had still been possible

to return the limb to the neutral position but soon afterwards

the limb would become fixed and painful to attempt to return

to the neutral position. In 61%, dystonia spread further;

whereby spread could occur to more proximal parts of the

same limb, the contralateral limb, an ipsilateral limb, the neck

or the dystonia could become generalized (Tables 5A and B).

The most common pattern of abnormal posture in the arms

was flexion of the fingers at the metacarpophalangal or inter-

phalangeal joints. Typically, digits 4 and 5 were more affected

than digits 2 and 3, and the thumb was least affected or not

affected. In the legs inversion and plantar-flexion of the foot

and curling of toes were most common (Figs 2 and 3), but

other postures occurred. No patient had a geste antagoniste,

and dystonia was never action-induced. No patient displayed

overflow dystonia in other limbs when attempting to move the

affected body part. Eight patients had had manipulation under

general anaesthesia: two had persistent contractures but the

remaining six had a full range of motion.

In the retrospective sample, the pattern of distribution was

similar, but four patients had non-mechanical jaw occlusion

and deviation. In only half of these patients, who had been

followed for a shorter period, spread of the dystonia beyond

the site of onset had occurred.

Associated featuresOther movement disorders seen or reported in the prospective

sample included additional painful spasms (n = 26, 63%),

tremor in the affected (n = 10, 24%) or other body parts

(n = 6, 15%), and reported involuntary jerks (n = 4, 10%).

When seen, the tremor was often irregular and jerky, and had

clear features of psychogenic tremor (entrainment, distract-

ibility, variable amplitude and frequency) in four patients

(10%). Six patients had additional movement disorders

(15%, Table 5B). All patients had severely restricted range

of movement. Weakness in the affected limb was seen in 18

(44%), but power in the affected limb was often difficult to

test due to the fixed posture associated with spasms and pain.

In 10 patients (24%), there was clear ‘give-way’ weakness

and, typically, there was increased tone on passive move-

ments in muscles that could not be moved actively

(Table 5B). Secondary wasting was, perhaps surprisingly,

uncommon (17%). Reflexes were normal or only slightly

increased and symmetrical, and the plantar responses were

flexor in all patients. Infections secondary to abnormal hand

position were a problem in some patients, particularly those

whose fingers pressed into their palms. One patient had devel-

oped severe recurrent infections of the affected leg.

Continuous pain at rest was a feature in all but three pro-

spectively studied patients, and a major component in 41%.

Features of CRPS—including allodynia/hyperpathia, trophic

or sudomotor changes, and temperature or colour changes—

were seen in 18 (44%), but only eight patients (20%) fulfilled

criteria for CRPS (Stanton-Hicks et al., 1995) (Tables 1 and

5). Hypoaesthesia was present in 25 patients (61%), mostly

not in a dermatomal or peripheral nerve distribution; however,

one patient had a mild residual median and ulnar nerve neuro-

pathy following previous carpal tunnel decompression and

ulnar release operation before the onset of dystonia, and

one patient had a longstanding radiculopathy (with onset

many years before dystonia).

In the records of the retrospective group, similar clinical

findings had been noted with no additional features. One

patient had experienced severe recurrent infections in one

leg, which led to severe gangrene eventually necessitating

amputation. There had been some suggestion that these severe

infections were due to self-inflicted injuries.

InvestigationsIn the prospectively studied patients, abnormalities were seen

on brain or spine imaging in five patients—a small temporal

Fig. 2 Patient with fixed dystonic posture of the hand

Fig. 3 Patient with fixed dystonic posture of the leg

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meningioma, a small temporal pole cavity, a left frontal focal

dysplasia, a small middle cerebellar peduncle lesion and a

small lumbar spina bifida occulta. None of these findings was

felt to be causative for the dystonia. CSF examinations (n =

18) did not reveal any abnormality in any patient. Routine

EMG studies revealed active contraction in affected muscles,

although this was minimal in the patients with contractures,

and as electrical silence could be achieved, there was no

continuous motor unit activity. Nerve conduction studies

were normal in all but the two patients previously mentioned.

Somatosensory evoked potentials (n = 22), central motor con-

duction time (n = 8) and cutaneomuscular reflexes (n = 3) were

normal in all patients in whom these were tested. Radiographs

revealed local osteoporosis compatible with a diagnosis of

CRPS in 50% of those in whom it was performed (n = 10).

None of the 25 fixed dystonia patients tested was positive for

the DYT1 mutation.

No additional abnormalities were detected in the patients

studied retrospectively.

Prevalence of psychiatric disorders in fixeddystonia and dystonia controlsTwenty-six prospectively studied patients with fixed dystonia

and 20 patients with classic dystonia underwent structured and

detailed neuropsychiatric evaluation using the SCAN inter-

view. The groups did not differ with regard to gender ratio,

age or degree of disability, but patients in the dystonia control

group had had longer disease duration (Table 2).

Psychiatric comorbidityAmong those who underwent the detailed SCAN interviews, a

higher rate of affective disorders since the onset of dystonia

was found in the fixed dystonia group compared with the

control group (50 verus 15%, P = 0.01; Table 6). Furthermore,

11 patients (42%) with fixed dystonia but none in the control

group reported dissociative symptoms according to DSM-IV

criteria (Table 6).

Conversion or somatoform disorderClear evidence for conversion with a history of psychological

distress or psychiatric disorder at the onset of the dystonia was

found in two of the 26 patients with fixed dystonia who under-

went the SCAN interviews (8%), and in five patients in the

overall prospective group of 41 patients with fixed dystonia

(12%). In addition, nine of the 41 patients with fixed dystonia

(22%), but no patient with typical dystonia, reported a history

of sexual trauma (P = 0.02).

A DSM-IV diagnosis of somatization disorder was made in

29% of the 41 patients in the prospective fixed dystonia group,

in 38.5% of the 26 who underwent structured and detailed

SCAN interviews, and in 41% of the 17 whose general prac-

tice notes were examined (Table 6). This diagnosis had

been previously made in only two patients with fixed dystonia.

In the remainder, the diagnosis was made only after the

interview and examination of previous general practice

notes (83% of the 12 patients in whom this diagnosis was

made). Among the 20 control patients, this diagnosis was

made in only one patient, who also suffered from a general-

ized anxiety disorder (5%, P = 0.01), and in none of the

control patients whose general practice notes were available

(P = 0.005).

Psychogenic dystoniaIn the prospective group, 10 patients (24%) fulfilled criteria

for ‘documented’ psychogenic dystonia, and five (12%) for

‘clinically established’ psychogenic dystonia. In four patients

(10%), there was no suggestion of a psychogenic movement

disorder (Tables 5B and 6).

In the retrospective sample who had not had structured

assessments and examination of their primary care notes,

there was a higher percentage of patients with no evidence

of psychogenic dystonia (P < 0.0001; Table 7).

Factitious disorder and litigationIn the prospective fixed dystonia group, a suspicion of

factitious origin was raised in one patient with recurrent

abscesses. We did not find convincing evidence for malinger-

ing in any patient, but secret video-surveillance was not

used in our study. However, in one patient, a lawsuit

was settled for a low sum on the advice of the patient’s

solicitor after he had viewed a secret video-recording record-

ing obtained by the defence (Patient 26). Litigation concern-

ing an initial injury was reported on direct questioning by six

patients (15%) and no patient in the control group (not sig-

nificant). The clinical characteristics of these patients did not

differ from those not reporting litigation other than reporting

more colour and temperature changes (both P <0.05). How-

ever, we did not seek to confirm litigation status by outside

sources. All patients in the fixed dystonia group were on

disability allowances and no patient received significant

insurance payouts (by self-report).

In the retrospective group, there was suspicion in one

patient of factitious origin of non-healing abscesses leading

to leg amputation following gangrene.

Prognosis and treatmentThe progression over time varied widely (Table 4).

In the prospective group, one third did not deteriorate

further after initial progression over the first weeks or

months. However, in others the dystonia spread to involve

the whole limb, spread contralaterally or ipsilaterally,

or became generalized—often within a short period

(Table 4). In six patients (15%), dystonia deteriorated

and other problems occurred such as urinary dysfunction or

medically unexplained symptoms (Table 5B). In four

patients (10%), the course fluctuated with relapses, often

associated with a deterioration in their psychological

state. Nineteen patients (46%) experienced remissions

(Tables 5A and B).

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In the retrospective sample, the dystonia remained focal in

a higher percentage (60%; Table 4) and 10 patients had

remission of symptoms (16%); however, follow-up was

shorter in this patient group (Table 5A).

Treatments included a plethora of drugs, surgical treatments

and non-drug treatments, often in multiple combinations.

Significant, lasting improvement was seen in the prospective

group following a multidisciplinary inpatient treatment

combining cognitive behavioural therapy, physiotherapy,

occupational therapy and psychotherapy in seven out of the

seven patients who underwent this treatment. Marked

improvement was also seen with a combination of physio-

therapy and suggestion, and oral mexiletine, each in one

patient (Table 5A). Improvement was also reported following

botulinum toxin injections in eight patients, but the response

ranged from no or transient improvement, to almost complete

remission (when combined with positive suggestion). One

patient, who had already improved considerably following

a change of relationship, underwent bilateral tibial nerve

neurolysis with complete remission of symptoms. Another

patient who underwent subtalar fusion, however, experienced

further deterioration of symptoms. Partial relief of dystonia

was reported by a few patients on benzodiazepines (n = 4),

baclofen (n = 3), dopaminergic drugs (n = 2), anticholinergics

(n = 2) and self-medicated cannabis (n = 2). Opiates

Table 6 Rate of psychopathology in fixed dystonia and dystonia controls according to DSM-IV criteria in patientsassessed using the SCAN interview

Diagnoses since onset of dystonia Lifetime diagnoses

Dystonia controls Fixed dystonia Dystonia controls Fixed dystonia

n 20 26 20 26General anxiety disorder 5 (25.0%) 6 (23.1%) 6 (30%) 6 (23.1%)Panic disorder 0 2 (7.7%) 1 (5.0%) 4 (15.4%)Specific phobia 0 0 0 1 (3.8%)Agoraphobia 0 2 (7.7%) 0 2 (7.7%)Social phobia 0 0 0 0Obsessional-compulsive disorder 0 2 (7.7%) 1 (5.0%) 2 (7.7%)Post-traumatic stress disorder 0 2 (7.7%) 0 4 (15.4%)Anxiety disorder not otherwise specified (NOS) 3 (15.0) 3 (11.5%) 3 (15.0%) 5 (19.2%)Any anxiety disorder 8 (40.0%) 11 (42.3%) 0 (45.0%) 15 (57.7%)Bipolar disorder 0 0 0 0Single episode of major depression 0 3 (11.5%) 4 (20.0%) 9 (34.6)Recurrent episodes of major depression 0 4 (15.4%) 0 4 (15.4%)Depression NOS 3 (15.0) 6 (23.1%) 7 (35.0%) 12 (46.2%)Mild drug-induced hypomania 0 0 4 (20.0) 4 (15.4%)Dysthymia 0 1 (3.8%) 0 1 (3.8%)Any affective disorder1 3 (15.0%)* 13 (50.0%) 10 (50%)* 22 (84.6%)Eating disorder 0 4 (15.4%) 2 (10.0%) 9 (34.6%)Alcohol misuse disorder 1 (5.0%) 0 2 (10.0%) 2 (7.7%)Substance abuse disorder 0 0 0 1 (3.8%)Psychosis 0 0 0 0Somatization disorder

in the overall group (n = 41) 1 (5%)* 12 (29%)among those assessed using the SCAN (n = 26) 1 (5%)* 10 (38.5%)among those whose GP notes were examined (n = 17) 0** 7 (41%)

Conversion disorder 0 2 (7.7%)Any dissociative disorder 0*** 11 (42.3%)

dissociative amnesia 0* 8 (30.8%)dissociative fugue 0 1 (3.8%)dissociative identity disorder 0 0depersonalization disorder 0 0dissociation not otherwise specified 0* 7 (26.9%)

Personality disorder2 0 3 (19%)

*P < 0.05; **P < 0.005; ***P < 0.001; 1Excluding drug-induced changes, 2Among the patients agreeing to the Structured Assessment ofPersonality (Pilgrim et al., 1993); GP = general practice

Table 7 Number of patients fulfilling criteria forpsychogenic dystonia (Fahn and Williams, 1988)

Prospectivesample

Retrospectivesample

P-value

n = 41 n = 62

Documented* 10 (24%) 0Clinically established* 5 (12%) 10 (16%)Probable 20 (49%) 20 (32%)Possible 2 (5%) 4 (6%)No suggestion ofpsychogenic dystonia

4 (10%) 28 (45%) <0.0001

*Combined to ‘clinically definite’

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(n = 5), antiepileptic drugs (n = 1) and neuroleptics (n = 1)

resulted in partial pain relief. Antidepressants were effective

for the treatment of pain or depression in two patients and

transcutaneous electrical nerve stimulation (TENS) was help-

ful in a further two. Although two of five patients experienced

temporary relief of their pain following sympathectomy or

sympathetic blocks, this was not sustained and two patients

experienced permanent side effects including urinary dys-

function and sensory loss. Two patients derived significant

improvement of pain from a spinal cord stimulator. Many

patients, however, were on a large number of drugs particu-

larly for pain including high doses of opiates, benzhexol,

baclofen, and benzodiazepines, and attempts to reduce opiates

were generally unsuccessful.

In the retrospective sample, the response to treatments was

similar, but in four patients surgical procedures including

tendon resection or transplantation, division of motor nerves

and selective denervations were performed with improvement

of dystonia and pain for limited periods of time. Arthrodesis to

stabilize fixed foot dystonia led to initial improvement in two

patients, but spread to other body parts occurred in both

patients.

DiscussionClinical aspectsFixed dystonia is an uncommon, but severely disabling con-

dition, that usually affects young people, predominantly

young women. The pattern of muscle groups involved varies

widely, but limb onset is most frequent and, while the con-

dition remains focal in a proportion of cases, spread to other

muscle groups occurs in the majority. Pain is present in most

patients and the abnormal posture may be accompanied by a

variety of other movement disorders, sensory disturbances

and features of CRPS. The overall prognosis is poor, but

remissions can occur either with treatment or spontaneously.

Fixed dystonia differs from typical dystonia in a variety

of ways, including the fixed posture at rest, the distribu-

tion and age at onset, the rate of progression and spread,

the lack of characteristic features such as sensory tricks

and action-specificity, the presence of associated features

and the lack of response to traditional treatment for dystonia

(see Bhatia et al., 1993). Other disorders including neurode-

generative conditions like corticobasal degeneration or stiff

person syndrome can sometimes present with a fixed dystonic

posture, but lack of other typical features of these conditions

and normal investigations such as the absence of anti-GAD

(glutamic acid decarboxylase) antibodies and continuous

motor unit activity on EMG exclude these diagnoses in this

cohort. However, we found considerable overlap of fixed

dystonia with somatoform disorders/psychogenic dystonia.

In this discussion, we will attempt to analyse the overlap

of the syndrome of fixed dystonia with post-traumatic

dystonia and CRPS, and somatoform and psychogenic

disorders.

Overlap with post-traumatic dystonia and CRPSFixed dystonia most commonly occurs (or exacerbates) after

a minor peripheral trauma, including operations or immobi-

lization in a plaster cast, and these cases have been termed

‘post-traumatic dystonia’ in the past (Jankovic and Van der

Linden C., 1988; Tarsy, 1998). However, fixed dystonia may

also occur spontaneously without obvious precipitating fac-

tors or in association with a psychological stressor, suggesting

that this may play a role in the aetiology of this condition at

least in some patients. There is also considerable overlap of

fixed dystonia with CRPS (for a review see Schott, 2001).

Fixed dystonic postures are one of the movement disorders

associated with CRPS, and the combination of dystonia with

CRPS has been termed the causalgia-dystonia syndrome

(Bhatia et al., 1993). The features of some of the patients

in our series resemble those previously reported in dystonia

with CRPS; these include age of onset, female preponderance,

weakness, spasms, occasional tremor or myoclonus, difficulty

initiating movement, pain and sensory disturbances

(Schwartzman and Kerrigan, 1990; Veldman et al., 1993;

Birklein et al., 2000; van Hilten et al., 2001). Not all patients

with fixed dystonia, however, had features of CRPS and, in

many cases, whilst some features of CRPS were present

(hyperaesthesia, colour change or coldness of the limb),

these were not sufficient to fulfil the full criteria for CRPS

(Stanton-Hicks et al., 1995). Only two patients had abnorm-

alities on nerve conduction studies, with a clear temporal

relationship to onset of symptoms suggesting CRPS type II

(CRPS with nerve injury) in only one. Nevertheless, there

appeared to be significant overlap between these conditions

in at least some of these patients.

Mechanism/pathophysiologyThe mechanism by which dystonia may be related to

post-traumatic movement disorders and CRPS is poorly

understood. Although reports about effectiveness of sym-

pathectomies in CRPS have suggested that this condition

is mediated through the sympathetic nervous system, this

view has recently been called into question (Schott, 1995;

Baron et al., 1999). Inflammation has also been reported to be

involved in the development of CRPS following injury, at

least in the early stages (Birklein et al., 2001). Other peri-

pheral mechanisms such as sensitization of peripheral

nociceptors, or ectopic or ephaptic transmission of nerve

impulses, have been suggested as a possible mechanism of

CRPS and post-traumatic movement disorders (Jankovic,

1994; Schott, 1986b, 2001). However, spread to ipsilateral,

axial, and contralateral muscles may occur in fixed dystonia,

as in CRPS and post-traumatic dystonia. This suggests that, at

least in these cases, such peripheral mechanisms are unlikely

to explain the development of abnormal movements after

injury. Impairment of interneuronal circuits at the spinal or

brainstem level and central synaptic reorganization analogous

to that following amputation have been suggested as possible

mechanisms that may lead to such sequelae even after a minor

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peripheral injury (van Hilten et al., 2001). However, none of

these mechanisms can explain the occurrence of dystonia or

CRPS in the absence of an injury. It is well known that a

variety of systemic or central causes—including pregnancy

and CNS disorders such as stroke or multiple sclerosis

(Greene et al., 1990; Butler et al., 2000; Schott, 2001)—

can lead to CRPS, and that other reported causes of CRPS

with abnormal movements also include somatoform disorders

and even malingering (Kurlan et al., 1997; Verdugo and

Ochoa, 2000). Verdugo and Ochoa (2000) found that none

of 58 patients fulfilling criteria for CRPS with abnormal

movements had evidence of structural nerve, spinal cord

or intracranial damage; all their patients exhibited non-

organic signs and, in some cases, malingering was documen-

ted. They concluded that abnormal movements in CRPS indi-

cate a somatoform or malingering origin. However, others

have reported conflicting results (Birklein et al., 2000) and

have disputed an association between CRPS and psycholo-

gical disorders (Lynch, 1992; Ciccone et al., 1997). The

finding of abnormalities of reciprocal inhibition of H-reflexes,

usually seen in typical dystonia (Koelman et al., 1999; van de

Beek et al., 2002a,b), abnormal stretch reflexes (van Hilten

et al., 2001; van de Beek et al., 2002b), a high prevalence

of HLA-DR 13 (van Hilten et al., 2000b) in dystonia asso-

ciated with CRPS, and changes in contralateral thalamic per-

fusion on 123iodine-labelled single photon emission computed

tomography (SPECT) imaging in cases of CRPS (Fukumoto

et al., 1999) have been interpreted as evidence for an organic

aetiology in dystonia in CRPS. However, whether these cen-

tral or peripheral changes are primary or secondary to the

clinical abnormalities remains a matter of dispute, and the

finding of a HLA-DR 13 association has yet to be replicated

in other studies. In addition, functional neuroimaging can

demonstrate changes in both classic dystonia and somatoform

disorders (Vuilleumier et al., 2001; Hakala et al., 2002) and,

at present, this technique has not been useful in allowing an

aetiological classification of this disorder.

Overlap with somatoform and psychogenicdisordersIn this study, we have examined whether patients with fixed

dystonia (with or without CRPS) have a psychogenic disorder

after alternative secondary causes were excluded. The results

show that a substantial proportion of patients with fixed dys-

tonia clearly fulfil criteria for a psychogenic dystonia (37%) or

somatization disorder (29%). Although fixed dystonia some-

times developed in patients in whom a diagnosis of somatiza-

tion disorder had already been made, a history of somatization

was often unrecognized and, in many cases, only became

evident after examination of primary care records. What is

now recognized as classical dystonia has often been misdiag-

nosed as a psychiatric disorder in the past (Eldridge et al.,

1969). In this study, we were therefore careful not to wrongly

attribute fixed dystonia to a psychiatric cause or malingering,

and diagnosed somatoform disorder only if full DSM-IV

criteria for somatization disorder, the most severe type of

somatoform disorder, were met. There may have been addi-

tional patients who did not fulfil the full criteria for somatiza-

tion disorder but, nevertheless, may have had a somatoform

disorder. In addition, whilst five patients fulfilled criteria for

conversion disorder, it is possible that others, in whom a psy-

chological stressor was not identified, may have been missed.

In this context, it is relevant that the rate of dissociative dis-

orders, which has been reported to be higher in conversion

disorders (Spitzer et al., 1999), was significantly higher in the

group of patients with fixed dystonia than in the control group.

Thus, the percentage of patients with fixed dystonia due to a

somatoform or conversion disorder is likely to be an under-

estimate (29 and 12% in this study). In addition, a proportion of

patients (37%) fulfilled the criteria for clinically definite psy-

chogenic dystonia (Fahn and Williams, 1988). However, this

figure is again likely to be an underestimate for two reasons.

First, one of the core feature of psychogenic movement dis-

order, distractibility, is less likely to be seen in patients with a

psychogenic dystonia, as it is easier to maintain an unchanged

posture when attention is diverted than to maintain for ex-

ample psychogenic tremor. Secondly, in order to avoid a cir-

cular argument, we excluded fixed dystonic postures, pain or

non-anatomical sensory loss from the diagnostic features

‘incongruent with organic dystonia’. Fixed dystonic postures

are, nevertheless, commonly seen in psychogenic dystonia

(Fahn and Williams, 1988; Lang, 1995; Lees, 2002) and the

syndrome shares other characteristics of psychogenic dystonia

such as onset in the lower limbs and spread to other body parts

in an adult, female preponderance, young age of onset, lack of

sensory tricks and overflow-dystonia, unresponsiveness to

appropriate medications and non-anatomical sensory impair-

ment (Fahn and Williams, 1988; Lang, 1995; Mailis et al.,

2000; Lees, 2002). Thus, we believe that our estimates of

somatoform disorder or psychogenic disorder are likely to

be conservative and that a considerable proportion of patients

with fixed dystonia develop this disorder in the context of a

somatoform illness. This is supported to some extent by the

considerable improvement experienced by the small number

of patients who underwent multidisciplinary treatment includ-

ing psychotherapy. This therapeutic success, which is similar

to that reported in psychogenic movement disorders by

Williams et al. (1995), compares favourably with the other-

wise poor prognosis of this condition.

Features of CRPS were seen both in patients fulfilling cri-

teria for somatoform illness or psychogenic dystonia and

those who did not (Table 5A). One patient with CRPS lost

the abnormal limb posture as well as the associated features of

CRPS when she became manic after a suicide attempt with

opiates, at which time a number of psychological conflicts

were uncovered. This is in keeping with the reports of CRPS

in conversion disorder (Verdugo and Ochoa, 2000) or mal-

ingering (Kurlan et al., 1997), and suggests that the presence

of CRPS is not an unequivocal indicator of organicity.

In this study, there remains a proportion of cases (10% in

the prospective and 45% in the retrospective sample) in whom

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there is no suggestion of a psychogenic disorder and in whom

the diagnosis remains unclear. It is notable that this number

was significantly smaller in the prospective group: as it was

possible to study these patients in more detail, the figure of

10% may be more accurate. In these patients, there was no

conclusive reason to suggest a psychiatric disorder. Whilst

there was a history of previous, but transient, movement dis-

order and a positive family history in a quarter of the pro-

spectively studied patients, these did not occur in a consistent

pattern and it is therefore difficult to postulate a single phy-

siological or genetic cause for these findings. Mutations in the

DYT1 gene were excluded in all patients tested, but as focal

dystonia is not usually associated with this mutation (Jarman

et al., 1999), an, as yet unidentified, genetic predisposition

cannot be excluded. In addition, the possibility that a propor-

tion of these patients have an autoimmune disorder related to

stiff limb syndrome, as suggest by van Hilten et al. (2000b),

cannot be excluded. However, it is also possible that these

patients have an, as yet unrecognized, psychiatric disorder—

although not fulfilling the strict diagnostic criteria we used. At

present, this question cannot be answered and, until further

evidence emerges, the aetiology of the disorder in a propor-

tion of these cases remains unclear.

Outcome and treatmentGiven the poor overall outcome of this patient group, it is

noteworthy that the best outcome was seen in patients who

underwent multidisciplinary treatment which incorporated

rehabilitation with physiotherapy and occupational therapy,

as well as psychotherapy and psychiatric treatment as approp-

riate. Whilst we recognize that availability of such intensive

treatment is limited and that only some patients will be willing

and suitable for such treatment, this appeared to be the most

successful therapeutic approach in this patient group. Pharma-

cological treatment was largely unsuccessful and invasive

procedures, including lumbar spinal blocks and sympathecto-

mies, did not provide sustained benefit in any patient and

resulted in further problems in some. Despite the reported

benefit of sympathectomies for CRPS, particularly early in

the course of the syndrome (Schwartzman et al., 1997), the

findings of this study are in agreement with previous reports

that sympathectomies have not been demonstrated to produce

convincing benefit in CRPS (Verdugo and Ochoa, 1994;

Schott, 2001). On current evidence, we therefore conclude

that such procedures should be avoided in fixed dystonia. In

addition, we found that immobilization in a plaster cast, which

has been reported to be beneficial for some patients with

occupational dystonia (Priori et al., 2001) and was a proce-

dure applied to some patients in this study, did not result in

benefit to any patient and was associated with the onset or

deterioration of dystonia in a proportion of patients. Tibial

nerve neurolysis resulted in improvement in one patient, but a

placebo response cannot be excluded as this patient had

reported previous improvement of dystonia following change

of a relationship and there was evidence for the presence of a

somatoform disorder. Other operative orthopaedic procedures

resulted in further deterioration of dystonia in three patients;

in one patient, amputation had become inevitable due to gang-

rene, but did not prevent the progression to the contralateral

side. Finally, addiction to high doses of opiates, but also to

anticholinergics or baclofen, was not uncommon, and poly-

pharmacy was frequent. We conclude that management of this

condition should therefore remain conservative and that non-

medical treatment such as physiotherapy and pain manage-

ment techniques and, if possible, multidisciplinary treatment

incorporating psychotherapy, should be offered to these

patients. Botulinum toxin, anticholinergics, baclofen and

benzodiazepines may be tried, but should only be used on

a long-term basis if there is evidence of definite benefit. We

have no experience with the use of corticosteroids in patients

with pseudoinflammatory changes, or biphosphonates in those

with osteoporosis (Schott, 2001), or intrathecal baclofen (van

Hilten et al., 2000a) in fixed dystonia.

ConclusionsFixed dystonia often follows peripheral trauma and, in some

cases, has features overlapping with those of CRPS. Whilst an

underlying basal ganglia, spinal cord or peripheral neuro-

logical abnormality needs to be excluded, careful evaluation

often reveals evidence of a somatoform disorder or psycho-

genic dystonia. Thus we believe that, once a primary or sec-

ondary cause has been excluded, patients with fixed dystonia

should be screened for a psychiatric or somatoform illness,

and a diagnosis of psychogenic dystonia should be consid-

ered. In a minority of patients, however, no features of somato-

form disorder or psychogenic disorder can be found, and

whether their disorder is primarily neurological or psychiatric

remains unclear. Whilst the prognosis in this condition overall

is poor, a multidisciplinary treatment approach including

physiotherapy and psychotherapy appears to produce con-

siderable improvement in some patients.

AcknowledgementsWe are grateful to the patients for their participation in the

study and to our colleagues for referring these patients. We

also wish to thank Dr Geoffrey Schott and Dr Jonathan Schott

for their helpful comments on the final version of this paper.

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