A History of Dystonia: Ancient to Modern

Before 1911, when Hermann Oppenheim introduced the term dystonia, this movement disorder lacked a unifying descriptor. While words like epilepsy, apoplexy, and palsy have had their meanings since antiquity, references to dystonia are much harder to identify in historical documents. Torticollis is an exception, although there is difficulty distinguishing dystonic torticollis from congenital muscular torticollis. There are, nevertheless, possible representations of dystonia in literature and visual art from the pre-modern world. Eighteenth century systematic nosologists such as Linnaeus, de Sauvages, and Cullen had attempted to classify some spasmodic conditions, including torticollis. But only after Charcot's contributions to clinical neuroscience were the various forms of generalized and focal dystonia clearly delineated. They were categorized as névroses: Charcot's term for conditions without an identifiable neuroanatomical cause. For a time thereafter, psychoanalytic models of dystonia based on Freud's ideas about unconscious conflicts transduced into physical symptoms were ascendant, although there was always a dissenting “organic” school. With the rise of subspecialization in movement disorders during the 1970s, the pendulum swung strongly back toward organic causation. David Marsden's clinical and electrophysiological research on the adult-onset focal dystonias was particularly important in establishing a physical basis for these disorders. We are still in a period of “living history” of dystonia, with much yet to be understood about pathophysiology. Rigidly dualistic models have crumbled in the face of evidence of electrophysiological and psychopathological overlap between organic and functional dystonia. More flexible biopsychosocial frameworks may address the demand for new diagnostic and therapeutic rationales

Assessing the cervical range of motion in infants with positional plagiocephaly

Purpose: To determine if infants with positional plagiocephaly have limitations of active and passive cervical range of motion measured with simple and reliable methods. Methods: The examiners assessed bilateral active and passive cervical rotations and passive cervical lateral flexion. Cervical assessment was performed twice by 2 different physicians to assess intertester reliability. To assess intratester reliability the first investigator performed a second examination 48 hours after the first one. Results: One-hundred nine subjects were analyzed; 70.7% of the sample had head positional preference on the right, while 29.3% had head positional preference on the left (x2 35.52, P <0.001). Cervical rotations and lateral flexion showed reliable levels of agreement for intra and intertester reliability. Conclusions: The most limited range of motion in infants with positional plagiocephaly was cervical active rotation which affected more than 90% of patients. Passive cervical rotations and lateral flexion were limited in more than 60% of patient

Congenital muscular torticollis

Aim: The purpose of these studies was to undertake a survey of functional and cosmetic status in children treated for congenital muscular torticollis (CMT), to examine validity and reliability of the Muscle Function Scale (MFS), to find reference values for rotation and lateral flexion of the neck and muscle function of the lateral flexors in the neck for the normally developing infant, to investigate if infants with CMT are at higher risk of achieving the early motor milestones later compared to a control group of healthy infants and to investigate if treatment duration is affected when stretching is carried out by an experienced physiotherapist compared to parents. Methods: Range of motion (ROM) in neck rotation was measured with an arthrodial protractor. Lateral flexion was measured with the infant/child lying in supine on a big protractor. Muscle function of the lateral flexor muscles of the neck was measured with MFS, which was also tested for validity by a panel of experts. Physiotherapists and students tested intra-rater and inter-rater reliability of the MFS using photos. The presence of asymmetry of the face, posture and lateral band were observed and estimated according to a scoring sheet in study I. In study IV and V craniofacial asymmetry and head posture was assessed with the visual scale “severity assessment for plagiocephaly”. Motor development was assessed with Alberta Infant Motor Scale. A questionnaire about time spent in prone when awake and sleep position was used. Infants with CMT were randomized to stretching treatment by physiotherapist or parent in study V. Results: The majority of the children who had received earlier treatment for torticollis attained an overall excellent/good status and the most notable findings were remaining craniofacial asymmetry and asymmetry in muscle function. The MFS had high inter-rater and intra-rater reliability, weighted Kappa and intraclass correlation both >0.9. Reference values for the mean ROM in neck rotation in healthy infants were in mean 110° with SD 6,2° and a range of 100°-120°. In lateral flexion the mean ROM was 70° with SD 2,2° and a range of 65°-75°. Infants of two months of age had the mean muscle function score of 1, which increased to 3-4 at the age of ten months. Difference in scores on the left and right side were rare. Multiple regression analysis showed that infants in the CMT group had a significantly lower score at AIMS compared to the control group at two (p=0.03) and six months of age (p=0.05). Infants who spent ≥ three times daily in a prone position when awake, had significantly higher scores at AIMS than infants who spent less time in prone at two (p=0.001), six (p <0.001) and ten months of age (p <0.001). When stretching treatment was performed by an experienced physiotherapist the time to achieve satisfactory ROM in both rotation and lateral flexion was significantly (P<0.01) shorter compared to the parents group. Symmetrical head posture was achieved earlier (P=0.05) in the physiotherapist group than in the parent group Conclusion: Most children with CMT had an overall excellent/good status at follow up after physiotherapy treatment and the most notable findings were remaining craniofacial asymmetry and asymmetry in muscle function. The MFS was found to be valid and reliable. Infants under one year of age have good ROM in rotation and lateral flexion of the neck. Infants with CMT seem to be at higher risk of achieving the early motor milestones late compared with a healthy control group. However time spent in prone position seems to have a positive influence on this. Infants with CMT gained full ROM and symmetric head posture earlier when treated by an experienced physiotherapist compared to parents. Nevertheless parents can achieve a good result within a couple of months

Long-Term Efficacy and Safety of Chronic Globus Pallidus Internus Stimulation in Different Types of Primary Dystonia

Background: Deep brain stimulation (DBS) of the globus pallidus internus (GPi) offers a very promising therapy for medically intractable dystonia. However, little is known about the long-term benefit and safety of this procedure. We therefore performed a retrospective long-term analysis of 18 patients (age 12-78 years) suffering from primary generalized (9), segmental (6) or focal (3) dystonia (minimum follow-up: 36 months). Methods: Outcome was assessed using the Burke-Fahn-Marsden (BFM) scores (generalized dystonia) and the Tsui score (focal/segmental dystonia). Follow-up ranged between 37 and 90 months (mean 60 months). Results: Patients with generalized dystonia showed a mean improvement in the BFM movement score of 39.4% (range 0 68.8%), 42.5% (range -16.0 to 81.3%) and 46.8% (range-2.7 to 83.1%) at the 3- and 12-month, and long-term follow-up, respectively. In focal/ segmental dystonia, the mean reduction in the Tsui score was 36.8% (range 0-100%), 65.1% (range 16.7-100%) and 59.8% (range 16.7-100%) at the 3- and 12-month, and long-term follow-up, respectively. Local infections were noted in 2 patients and hardware problems (electrode dislocation and breakage of the extension cable) in 1 patient. Conclusion: Our data showed Gpi-DBS to offer a very effective and safe therapy for different kinds of primary dystonia, with a significant long-term benefit in the majority of cases. Copyright (c) 2008 S. Karger AG, Base

Trismus an overview

The word Trismus is Latin term derived from the Greek word “Trismos” which means grinding / rasping. In lay terms Trismus means limitation of mouth opening due to reduced mandible mobility. Two bones form the boundaries of oral cavity (maxilla and mandible). Out of these two maxilla is fixed and is not mobile, where as mandible is capable of upwards and downwards mobility with a limited forward and backward mobility too. The maximal interincisal opening (MIO) of at least 35mm 1 is used as a cutoff point to determine Trismus. Less than 5 mm of MIO indicates complete ankylosis. Roughly put the mouth opening should permit a minimum of three fingers when inserted sideways. Since the movement of the mandible occurs around Temporomandibular joint Kazanjian 2 classified ankylosis of TM joint into true and false types. True ankylosis of TM joint is usually caused due to pathology involving the joint while the term false ankylosis is used to describe restrictions of movement resulting from extra-articular joint abnormalities. It is this type of false ankylosis which clinicians commonly term as “Trismus”

Dystonia and paroxysmal dyskinesias: under-recognized movement disorders in domestic animals? A comparison with human dystonia/paroxysmal dyskinesias.

Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e., dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans and summarizes similar hereditary movement disorders reported in domestic animals

Cervical dystonia incidence and diagnostic delay in a multiethnic population.

BackgroundCurrent cervical dystonia (CD) incidence estimates are based on small numbers in relatively ethnically homogenous populations. The frequency and consequences of delayed CD diagnosis is poorly characterized.ObjectivesTo determine CD incidence and characterize CD diagnostic delay within a large, multiethnic integrated health maintenance organization.MethodsWe identified incident CD cases using electronic medical records and multistage screening of more than 3 million Kaiser Permanente Northern California members from January 1, 2003, to December 31, 2007. A final diagnosis was made by movement disorders specialist consensus. Diagnostic delay was measured by questionnaire and health utilization data. Incidence rates were estimated assuming a Poisson distribution of cases and directly standardized to the 2000 U.S. census. Multivariate logistic regression models were employed to assess diagnoses and behaviors preceding CD compared with matched controls, adjusting for age, sex, and membership duration.ResultsCD incidence was 1.18/100,000 person-years (95% confidence interval [CI], 0.35-2.0; women, 1.81; men, 0.52) based on 200 cases over 15.4 million person-years. Incidence increased with age. Half of the CD patients interviewed reported diagnostic delay. Diagnoses more common in CD patients before the index date included essential tremor (odds ratio [OR] 68.1; 95% CI, 28.2-164.5), cervical disc disease (OR 3.83; 95% CI, 2.8-5.2), neck sprain/strain (OR 2.77; 95% CI, 1.99-3.62), anxiety (OR 2.24; 95% CI, 1.63-3.11) and depression (OR 1.94; 95% CI, 1.4-2.68).ConclusionsCD incidence is greater in women and increases with age. Diagnostic delay is common and associated with adverse effects. © 2019 International Parkinson and Movement Disorder Society

Cerebellum: an explanation for dystonia?

Dystonia is a movement disorder that is characterized by involuntary muscle contractions, abnormal movements and postures, as well as by non-motor symptoms, and is due to abnormalities in different brain areas. In this article, we focus on the growing number of experimental studies aimed at explaining the pathophysiological role of the cerebellum in dystonia. Lastly, we highlight gaps in current knowledge and issues that future research studies should focus on as well as some of the potential applications of this research avenue. Clarifying the pathophysiological role of cerebellum in dystonia is an important concern given the increasing availability of invasive and non-invasive stimulation techniques and their potential therapeutic role in this condition