When was dystonia first discovered

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History of dystonia: part 4 of the MDS-sponsored history of movement disorders exhibit, Barcelona, June, Current concepts on the clinical features, aetiology and management of idiopathic cervical dystonia.

Brain ; Arq Neuropsiquiatr ; This and other relates contributed for organic origin of dystonic movements. Marsden was the most important researcher of movement disorders in the 20 th century. Phenomenology and classification of dystonia: a consensus update. In view of these limitations of the definition, an international Consensus Committee, in , proposes the following revised definition:.

Dystonia is a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both.

Dystonic movements are typically patterned, twisting, and may be tremulous. Dystonia is often initiated or worsened by voluntary action and associated with overflow muscle activation 12 In the next years, we expect a new discussion about the concept of dystonia. Maybe, the increase genetics discovery will be able to influence the next consensus dystonia definition.

Abrir menu Brasil. Arquivos de Neuro-Psiquiatria. Abrir menu. Carlos Henrique F. About the authors. Reference 1 Oppenheim H. Four years later a classification for psychogenic dystonia followed Table 1 Fahn and Williams, The first locus 9q32—34 region for idiopathic dystonia DYT1 was found in Ozelius et al.

Definitions on the degree of certainty of the diagnosis of a psychogenic dystonia Fahn and Williams, One of the earliest descriptions of cervical dystonia was given by the Swiss physician Felix Platerus, also known as Plater — Steyerthal, ; Platter, However, this patient had had torticollis from childhood and the origin was probably mechanical.

One of his patients, Mary Preston, developed the disease following a hard and protracted labour. Interestingly, the same case was also reported elsewhere Anonymous, , but according to these authors, the disease was not limited to the distribution of the accessory nerve.

Instead, he advised therapy by applying continuous stretch of the antagonists with the use of an instrument. The disorder started after the patient, who was a stockbroker, had lost all his money. On 10 July , he was presented again after being successfully treated with electricity.

Therapeutic dissection of the involved muscles or nerves, as performed by the Swiss surgeon Fritz de Quervain — de Quervain, , was considered malpractice according to Kollarits who, instead, stated that therapy should be based on suggestion. In this period, there was much discussion on torticollis in the scientific community. The debate went on for several decades. In Joseph Yaskin — wrote that before surgery, every case of spasmodic torticollis should receive a trial of psychotherapy Yaskin, In , Patterson and Little reported on cases with spasmodic torticollis Patterson and Little, , stating that the aetiology was usually organic and that surgery, intradural rhizotomy in particular, was very satisfactory.

However, in the Scottish physician Paterson presented 21 cases, concluding that psychotherapy was the treatment of choice unless gross signs of neurological disease were present Paterson, He summarized the reasons why they had been regarded psychogenic Table 3 Marsden, , and subsequently explained his ideas about functional abnormalities in the extrapyramidal motor system Marsden, Obvious arguments were their occurrence in early-onset generalized torsion dystonia and the similarities with late-onset generalized torsion dystonia: both focal dystonia and late-onset generalized torsion dystonia had a comparable age of onset and were usually neither progressive nor hereditary.

In the Canadian Tsui reported for the first time the successful use of botulinum toxin injections in 12 patients Tsui et al. During the past few decades hardly any reports on psychogenic cervical dystonia cases have been published. In the Italian physician Bernardino Ramazzini — recognized intense fatigue of the hand and arm, which resulted in failure of power, as an occupational disorder in professional writers Ramazzini, However, he advised an ingenious prosthesis Duchenne, Duchenne, Similar to the situation in cervical dystonia, the debate on aetiology started in the early 20th century.

The German physician Moritz Romberg — was mentioned as one of the early advocates [with reference to the edition of Rombergs Lehrbuch der Nervenkrankheiten des Menschen Romberg, ]. Others, including Mohr himself, believed that only people with certain personality characteristics were prone to develop the disorder, a psychological factor possibly being involved.

However, in , Cottraux et al. In my experience even subtle physical signs are absent in the many simple cases that I have seen and neither focal dystonia nor any other organic disorder could in my view impair movements only when they take part in one co-ordinated act while leaving totally unaffected all other precise and complex voluntary actions involving the affected member.

Walton, In , Silas Weir Mitchell — described a series of American Civil War — victims with gunshot wounds who developed burning pain and a shiny red skin after nerve injury Mitchel et al. He recognized that patients might come into an unendurably painful hyperaesthetic state.

Charcot, [This disorder has a short history. From then, I recognised more cases. In a number of them, I observed sensory abnormalities anaesthesia or hyperesthesia or movement disturbances paralysis and contractures. Mostly, patients were extraordinary persons having characteristics which may be considered hysterical.

It was different from causalgia in that it occurred in the absence of major nerve trauma. However, in , the International Association for the Study of Pain introduced the name complex regional pain syndrome CRPS for both conditions: type 1 reflex sympathetic dystrophy and type 2 causalgia Merskey and Bogduk, The diagnostic criteria for CRPS type 1 were: i the presence of an initiating noxious event, or a cause of immobilization not obligatory item ; ii continuing pain, allodynia or hyperalgesia with which the pain is disproportionate to any inciting event; iii evidence at some time of oedema, changes in skin blood flow or abnormal sudomotor activity in the region of the pain; and iv no other condition that would account for the degree of pain and dysfunction.

CRPS type 2 has the same characteristics, but is accompanied by nerve injury Merskey and Bogduk, In , Marsden et al. Six years later Schwartzman et al. The authors hypothesized on a spinal cause. In , a series of 18 patients with similar characteristics was reported Bhatia et al. However, it was remarkable that many patients met the criteria for psychogenic dystonia from vide supra Table 1.

They concluded that the aetiology of this disorder, psychogenic or organic, was unknown Bhatia et al. In it was reported that many patients with features of CRPS and dystonia also had features of psychogenic dystonia Schrag et al.

In the same year it was stated that a very large proportion had a primary psychogenic disorder Sa et al. In a more recent paper on CRPS type 1 patients with dystonia predominantly characterized by tonic flexion postures, the authors hypothesized that maladaptive plasticity with disinhibition of spinal mechanisms might be the cause van Rijn et al.

Although at first sight the attributions of the terms psychogenic and organic in Table 2 seem quite obvious, it seems more realistic to assume a spectrum with two ends between which attributions were moving. Moreover, the discussion between an organic and psychogenic aetiology has not always been explicit particularly in the 19th century.

The opinions of several authors could only be derived or interpreted from their hypotheses on aetiology and their therapies.

In the late 19th century, Charcot considered hysteria a neurosis, similar to paralysis agitans, epilepsy and chorea, which were diseases without known pathology. For paralysis agitans he expected that the lesion would be discovered Goetz et al. This was further elaborated by Freud and his followers Koehler, Hysteria evolved from a disease in which an organic pathophysiology was suspected but not found, to a psychogenic disease in the late 19th and early 20th century. Recent functional imaging studies in these patients have shown specific cerebral abnormalities Vuilleumier, , From these studies it is suspected that affective or stress-related factors modulate cerebral sensorimotor representations through interactions between limbic and sensorimotor networks.

It is hypothesized that primitive reflexive mechanisms of protection and alertness, which are partly independent of conscious control, are involved. The patients of Oppenheim made him move to the organic end of the spectrum, whereas Freud and his followers in psychoanalysis, moved in an opposite direction.

However, a new movement towards psychogenesis soon followed with the recognition of psychogenic dystonia. Meanwhile, the remaining dystonias kept their position on the organic side of the spectrum, not in the least because of the discovery of the DYT1 gene.

Nevertheless, one cannot be too rigid because dystonic disorders with a genetic origin can be triggered by emotional stress Breakefield et al. Bell and Duchenne probably assumed an organic cause for cervical dystonia Table 2. Psychological and surgical treatments were applied simultaneously in different patients at different places around the s. These should be interpreted in the humoral pathophysiological concepts of the time, i.

One would be inclined to consider an organic aetiology here; however, we may question whether Ramazzini was concerned with this question at all. A clearer distinction came about in the early 20th century, when Mohr mentioned personality characteristics and a psychological factor, and suggested psychoanalysis for treatment.

An interesting position was taken by Kinnier Wilson, assuming cortical dysfunction but comparing it to hysteria. Marsden et al. In contrast, Sa et al. But these are based on expert opinion. Such statements are not like a gold standard and should, therefore, be used with caution. Moreover, it is remarkable that the reasons why CRPS-related fixed dystonia is considered psychogenic are at least partly the same as the arguments that were used in the past to explain why focal dystonia was psychogenic Table 3 : i the dystonia in CRPS may be considered incongruent with classical dystonia; ii it may be inconsistent over time; iii weakness, described in the majority of CRPS cases, might be interpreted as false; iv sensory abnormalities, which fit the diagnosis of CRPS, might be interpreted as false sensory findings; and v sometimes, psychiatric abnormalities are present.

Seven reasons why focal dystonias were regarded as psychogenic Marsden, It is clear that the discussions on the psychogenic or organic aetiology of dystonia have been emotional. In some of the periods, particularly during the 20th century, strong believers as well as non-believers may be recognized. Charcot isolated hysterical disorders from other neurologic diseases. The rise of the psychoanalytic movement, following the work of Freud at the beginning of the 20th century, caused important disagreements between supporters of organic and psychogenic explanations.

This was not specific to the interpretation of dystonia, but more generally reflected the division between biologically and psychoanalytic oriented neuropsychiatrists at the time. The success and popularity of psychoanalysis, as well as the lack of an organic substrate for dystonia, encouraged psychogenic theories. As the 20th century proceeded, knowledge in favour of a somatic origin of early-onset generalized dystonia accumulated.

Marsden, a leading neurologist in movement disorders, convinced the neurological community in the s and s that both generalized and focal dystonia were somatic entities. However, psychogenic dystonia re-emerged, but as a special category. The recognition of the hereditary character of dystonia played an important role in attributing an organic nature in the first as well as the last decades of the 20th century.

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