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Sensory gestes (SG) are a pathognomonic sign of dystonia, which can be detected in up to two thirds of patients with cervical dystonia (CD). They reduce dystonia severity markedly but transiently. We report a patient whose CD substantially worsened with sensory input to the back of the head and neck in different body postures, a phenomomen recently termed "reverse" sensory geste (rSG) in craniocervical dystonia. In a cohort of CD outpatients, screening for "reverse" effects of SG on dystonia yielded a prevalence of 12.8% (n = 6/47). The most frequent rSG pattern was increased dystonic activity in a supine, resting position while trying to fall asleep. The response to rSG persisted throughout the course of the disease arguing for an impairment of central integration of neck proprioception. Assessment of rSG should be included in the routine examination of CD patients, since BTX treatment may have to beadjusted accordingly to be efficacious.

The objective of this work was to establish the existence and incidence of possible delayed-onset dystonia in a cohort of infants with diagnosed perinatal asphyxial hypoxic-ischemic encephalopathy (HIE). This prospective study comprised 103 survivors of perinatal asphyxial HIE, who were regularly followed and neurologically examined in the course of 7 to 13 years after birth (median 10 years). Neurological outcome at the end of the follow-up period was normal in 87 (84.5%) patients, while in 7 (6.8%) only mild neurological signs were detected (behavioral disturbances in 3, clumsiness in 2, and hypotonia in 1 patient). Severe cerebral palsy was diagnosed in nine patients (8.7%). Only one patient was diagnosed with possible delayed-onset segmental dystonia. At the age of 4 years he developed cervical dystonia with spread to one arm in the course of 1.5 years (segmental dystonia) and then stabilized. Other known causes of dystonia, including a DYT1 mutation, were excluded. Our preliminary data suggest that over the course of at least 7 years after birth, approximately 1% of infants who survived perinatal asphyxial HIE would develop delayed-onset dystonia., (2007 Movement Disorder Society)

We studied a case series of 9 patients with posttraumatic cervical dystonia, in whom involuntary muscle spasms and abnormal head postures occurred within 7 days after cervical injury. Patients were examined, treated with botulinum toxin as necessary, and were followed up to 5 years. Based on our observations of these cases, we propose that complex regional pain syndrome (CRPS) could represent a variant of posttraumatic cervical dystonia that may develop over time after the initiation of dystonia., (2004 Movement Disorder Society.)

The development of abnormal posturing of the neck or shoulder after local injury has been termed posttraumatic cervical dystonia (PTCD). Certain features seem to distinguish a unique subgroup of patients with this disorder from those with features more akin to typical idiopathic cervical dystonia, such as onset and maximum disability that occurs very quickly after injury, severe pain and a fixed abnormal posture. In an attempt to clarify the nature of this syndrome further, we evaluated 16 such patients (8 men, 8 women). Motor vehicle accident and work-related injuries were common precipitants, with posturing usually developing shortly after trauma, and little progression occurring after the first week. A characteristic, painful, fixed head tilt and shoulder elevation were present in all but one patient, who had a painless elevated shoulder and painful contralateral shoulder depression, as well as nondermatomal sensory loss in 14 patients. Additional abnormalities included dystonic posturing in a limb (2 patients) or jaw (1 patient), limb tremor (3 patients) and "give-way" limb weakness (8 patients). The tremor and the jaw dystonia demonstrated features suggestive of a psychogenic movement disorder, most commonly distractibility. Litigation or compensation was present in all 16 patients. Intravenous sodium amytal improved the posture, pain or both in 13 of 13 patients; in 7 of 13 the sensory deficit either markedly improved or normalized. General anesthesia demonstrated full range of motion in all 5 patients assessed. Psychological evaluations suggested that psychological conflict, stress, or both were being expressed via somatic channels in 11 of 12 tested patients. Our results suggest an important role of psychological factors in the etiology or maintenance of abnormal posture, pain and associated disability of these patients. The role of central factors triggered in psychologically vulnerable individuals after physical trauma is discussed. We propose that the disorder be referred to as "posttraumatic painful torticollis" rather than characterize it as a form of dystonia until further information on its pathogenesis is forthcoming., (Copyright 2003 Movement Disorder Society)

We tested the hypothesis that structural lesions of the central nervous system (CNS) associated with cervical dystonia more commonly involve the cerebellum and its primary afferent pathways than basal ganglia structures. Cervical dystonia is the most common focal dystonia, the majority of cases are idiopathic, and only a small percentage of patients have a family history of dystonia or other movement disorders. Pathophysiological mechanisms operative in solely or predominantly appendicular dystonias such as writer's cramp and Oppenheim's dystonia, respectively, may not be directly applicable to axial dystonias. The localization of structural lesions of the CNS associated with secondary cervical dystonia may provide some insight into the neural structures potentially involved in primary cervical dystonia. The National Library of Medicine Gateway (from 1960) and a clinical database maintained by the senior author (from 1999) were searched for cases of secondary cervical dystonia associated with structural lesions of the CNS. Search terms included one or more of the following: dystonia, torticollis, cervical, secondary, and symptomatic. Lesion localization and type, patient age, patient gender, head position, occurrence of sensory tricks, and associated neurological findings were tabulated for each case. Structural lesions associated with cervical dystonia were most commonly localized to the brainstem and cerebellum. The remaining cases were equally divided between the cervical spinal cord and basal ganglia. Although inconsistent, head rotation tended to be contralateral to lesion localization. Additional neurological abnormalities were present in the majority of patients with secondary cervical dystonia. The relative paucity of basal ganglia pathology and concentration of lesions in the brainstem, cerebellum, and cervical spinal cord in patients with secondary cervical dystonia suggests that dysfunction of cerebellar afferent pathways may be important to the pathophysiology of primary cervical dystonia., (Copyright 2002 Movement Disorder Society)

Complex movement disorders (CMD; including tremor, dystonias, choreoatheosis, and myoclonus) following infarcts in the posterior and posterolateral thalamic nuclei have been reported. This case of a 59-year-old man who developed CMD following bilateral paramedian and bilateral cerebellar infarcts illustrates the lack of anatomic specificity and the diverse pathophysiology which may underlie CMD., (Copyright 2001 Movement Disorder Society.)

Unlabelled: There is little agreement on which outcome measures to use to express the efficacy of treatments for cervical dystonia. We analyzed change scores on various scales of 64 new patients with cervical dystonia before and after repeated injections with botulinum toxin., Method: The association between change in impairment (Tsui), and change in pain (TWSTRS-Pain) and functional health (TWSTRS-D, MOS-20) was expressed in percentages of variance explained. Effect sizes of the outcome measures from patients who continued botulinum treatment and dropouts were compared. Performance of outcome measures to distinguish patients who continued treatment and dropouts was analyzed with ROC curves and areas under the curve (AUC)., Results: Impairments explained < or =7% of the score variance in functional health. There were no differences between the effect sizes of impairment and pain of patients who continued treatment and dropouts (p > 0.60). This suggests a poor reflection of the treatment efficacy by these outcome measures. Conversely, there were significant differences between the effect sizes of the functional status scales of the patients who continued treatment and the dropouts (p < or = 0.01). ROC curve analysis showed that the disability, handicap, and global disease burden scale accurately distinguished between the two groups (AUCs > 0.80). Impairments showed no discriminative accuracy (AUC = 0.46)., Conclusion: Neurologic impairments have a small impact on the functional health of cervical dystonia patients. Disability, handicap, and a global measure of disease burden were the most suitable outcome parameters to express the clinical efficacy of botulinum therapy.

Patients with truncal extension dystonia, manifested by involuntary back arching, often associated with pain and severe motor disability, have not consistently responded to pharmacologic agents. We evaluated 4 women and 1 man (mean age, 41.8 years; dystonia duration, 9.8 years) with severe idiopathic (2 patients) or tardive (3 patients) truncal and cervical dystonia. Using electromyographic guidance, we injected botulinum toxin into the paravertebral muscles of the lumbar region in four to six sites using 25-50 U per site. We reevaluated patients 2-4 weeks after injection. The mean dose of botulinum toxin into back muscles was 210 U (range, 150-300 U). By blinded videotape evaluation, objective improvement was found in three patients with a mean truncal dystonia score improving by 37%. Patient evaluation showed improvement in movement ranging from 20-80% (mean, 46%) after botulinum toxin. In all patients with pain as a result of dystonia, there was substantial improvement. None of the patients worsened and no adverse effects occurred. Botulinum toxin injections offer a potent new treatment for truncal dystonia.

Cervical dystonia was associated with posterior fossa tumors in three patients. The onset of dystonia paralleled the appearance of other focal neurologic signs. All patients had extraaxial tumors located in the cerebellopontine angle that were removed via suboccipital approaches. The tumors were identified as schwannomas arising from the glossopharyngeal nerve and from the vagus/accessory nerves; and a meningioma. Postoperatively, the cervical dystonia improved markedly during a period of 8 years in one patient, and it remitted completely within 1 year in another patient. In the third patient, cervical dystonia persisted. The combination of the clinical findings and the temporal relationship of their appearance suggest a causal association between the posterior fossa tumors and cervical dystonia in three cases. Possible pathogenic mechanisms are reviewed.

A patient with the clinical picture of Steele-Richardson-Olszewski syndrome and an unusual intermittent neck twisting is reported. He had virtually no voluntary ocular movements and only very slow, low-amplitude voluntary head movements. However, in response to optokinetic or vestibular stimulation, he developed full eye deviations in the direction of the slow phase of the expected nystagmus. No quick phases were observed, and the deviation outlasted the duration of the vestibular stimuli because of defective saccades. The head also turned fully during these stimuli, quicker than on attempted voluntary movements, and remained deviated similarly to the eyes. This suggests that the neck deviations in this patient were due to a disinhibited vestibulo-collic reflex and a disturbed head position resetting mechanism. Neck electromyographic responses in response to whole-body rotation indicated that the vestibulocollic reflex responsible for the torticollis in this patient had a short latency of approximately 30 ms.

We report a patient with a progressive motor disorder dominated by pyramidal signs in all four extremities and cervical dystonia in the form of torticollis, who had imaging features of cervical cord tumor on magnetic resonance imaging (MRI) scanning. Ependymoma was the final diagnosis by histology. Cervical dystonia presenting as a manifestation of an identified focal central nervous system (CNS) lesion is infrequent. We believe our patient to be the first adult example of cervical cord tumor giving rise to cervical dystonia. Adding this entity to the list of differential diagnosis of torticollis is considered, and its mechanisms are discussed.

We report nine patients who developed dystonia following head trauma. The most frequent form was hemidystonia only (six patients). One patient presented with hemidystonia plus torticollis, one with bilateral hemidystonia and one with torticollis only. Seven patients sustained a severe head injury, and two had a mild head injury. At the time of injury, six were younger than 10 years, two were adolescents, and the patient with torticollis only was an adult. Except in the patient with torticollis only, the onset of dystonia varied considerably from months to years. All patients with hemidystonia had posthemiplegic dystonia of delayed onset. Seven out of 8 patients with hemidystonia had lesions involving the contralateral caudate or putamen, as demonstrated by CT and MR. The patient with hemidystonia plus torticollis had no lesion to the basal ganglia, but a contralateral pontomesencephalic lesion. Response to medical treatment was generally poor. Functional stereotactic operations were performed in seven patients. A variety of factors may be responsible for the vascular or nonvascular posttraumatic basal ganglia lesions, which may lead to dystonia. The pathophysiology seems to be more complex than thought previously. We believe that dystonia following head injury is not as rare as is assumed. Awareness of its characteristics and optimized diagnostic procedures will lead to wider recognition of this entity.

We reviewed detailed clinical features of 266 patients with idiopathic cervical dystonia, commonly called spasmodic torticollis. Mean age at onset (41 years), female-to-male ratio (1.9:1), clustering of onset between ages 30 and 59 (70%), familial history of dystonia (12%), and remissions (9.8%) were similar to those found in previous studies. In contrast to the single prior large clinical study of this disorder, no predominance of right-handers or significant thyroid disease was found. Pain, which occurred in 75% of patients and contributed to disability score (p less than 0.01), distinguishes this syndrome from all other focal dystonias. Pain was also strongly associated with constant (vs. intermittent) head turning, severity of head turning, and presence of spasm. Eighty-three percent of patients had deviation of the head of greater than 75% of the time when sitting with the head unsupported (constant head deviation at rest). Of the 97% who had head turning, 81% also had head tilting in various combinations. The 23% with hand tremor had an older age at onset (mean, 46 vs. 41 years; p less than 0.05). An earlier age at onset (p less than 0.05) was seen in patients with a family history of dystonia (mean, 36 years), with trauma shortly preceding symptoms (mean, 36 years), with a change in the direction of head turning (mean, 30 years), and with remissions (mean, 33 years). Jerky movements or forced transient spasms of the head occurred in 62% of the patients, and these patients would be the ones for whom the designation "spasmodic torticollis" could logically apply.(ABSTRACT TRUNCATED AT 250 WORDS)

A case of multiple sclerosis is described in which spasmodic torticollis occurred abruptly and abated after 1 year. Magnetic resonance imaging (MRI) demonstrated a lesion in the mesencephalon. Other symptoms and physical signs that developed at the same time as the spasmodic torticollis were compatible with the lesion that had not been present on MRI 18 months previously. There are very few reports of spasmodic torticollis due to an identified focal lesion; there is evidence from experimental work on animals that midbrain lesions may cause spasmodic torticollis but there has been no previous human example.

A case of torticollis and blepharospasm as the major manifestation of neurological involvement in systemic lupus erythematosis (SLE) is presented. A 56-year-old woman presented with blepharospasm in February 1985 and with torticollis in April 1985. She was diagnosed as having SLE in 1966, on the basis of positive LE cells, when she presented with fever and joint pains. There was no evidence that she had ever been on major tranquilizers. An attempt has been made to correlate the level of antibody titres and exacerbation of these movements with response to steroids. The possibility of an association between blepharospasm, torticollis, and autoimmune disorders has recently been considered.

A patient with adenocarcinoma in the apical portion of the lung producing a Pancoast's syndrome developed torticollis a few months after receiving a course of radiation therapy (5,040 rad) to his upper chest and neck. We describe this case, in which local radiation fibrosis of the neck muscles and perhaps segmental demyelination of the 11th cranial nerve resulted in peripheral nervous system lesion causing torticollis.