Neuropsychological and Neuropsychiatric Features of Idiopathic and DYT1 Dystonia and the Impact of Medical and Surgical treatment.

Dystonia is a hyperkinetic movement disorder, characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive, movements, postures, or both. Executive dysfunction is a feature of cognitive function in idiopathic and DYT1 dystonia. Psychiatric morbidity is increased in dystonia, and depression, anxiety, obsessive compulsive disorders are the most common disorders. Sleep problems and pain are also frequently experienced. Evidence suggest that mood and anxiety disorders are intrinsic to the neurobiology of dystonia, but also that psychiatric co-morbidity can be secondary to pain experience and the psychosocial functioning and quality of life of the patients. Medical treatment of dystonia with botulinum toxin injections into affected muscles or with deep brain stimulation surgery improves the symptoms as well as mood and the quality of the patients and does not produce any adverse effects on cognitive function.

Fat embolism syndrome in a child with dystonia musculorum deformans.

A 16-year-old boy with dystonia musculorum deformans underwent an operation for removal of femoral implants and excision of the prominence at the greater trochanter of the left hip. He was found to have fat embolism syndrome at postoperative day 1 as evidenced by confusion, respiratory symptoms, chest radiograph changes, raised erythrocyte sedimentation rate, thrombocytopenia and fat in the urine and sputum.

Deep brain stimulation for torsion dystonia.

Deep brain stimulation (DBS) at the globus pallidus pars internus (GPi) is an effective treatment for some patients with medically refractory torsion dystonia. In this chapter we review the classification and treatment of torsion dystonia including the current indications for DBS surgery. Details of the DBS procedure and programming of the DBS devices are discussed. Pallidal DBS is most effective in patients with primary generalized dystonia. Children and adolescents possessing the DYT1 gene mutation may respond best of all. Patients with cervical dystonia may also improve with pallidal DBS but definitive clinical evidence is lacking. As a group, patients with secondary dystonias respond less well to DBS than do patients with primary dystonia; however, patients with dystonia secondary to anoxic brain injury who have grossly intact basal ganglia anatomy, and patients with tardive dystonia may represent secondary dystonia subtypes for whom pallidal DBS is a viable option.

Dystonia: genetics and treatment update.

BACKGROUND: Dystonia refers to a syndrome of sustained muscle contractions, frequently causing twisting and repetitive movements or abnormal postures. Although age at onset, anatomic distribution, and family history are essential elements in the evaluation of dystonia, new classification increasingly relies on etiologic and genetic data. In recent years, much progress has been made on the genetics of various forms of dystonia and its pathophysiology underlying the clinical signs. The treatment of dystonia has continued to evolve to include newer medications, different forms of botulinum toxin, and various surgical procedures. REVIEW SUMMARY: In this article, the author reviewed and summarized the history of dystonia, its evolving classification, and recent genetic data, as well as its clinical investigation and treatment. CONCLUSIONS: Recent advances in molecular biology have led to the discovery of novel dystonia genes and loci, updating classification schemes, and better understanding of underlying pathophysiology. Treatment strategies for dystonia have significantly been updated with the introduction of different forms of botulinum toxin therapy, new pharmacologic agents, and most recently pallidal deep brain stimulation. A systematic approach to the diagnosis and treatment evaluation of dystonic patients provides optimal care for long-term management.

Spinal lordosis with marked opisthotonus secondary to dystonia musculorum deformans: case report with surgical management.

STUDY DESIGN: A case report of severe spinal lordosis with marked opisthotonus and retrocollis secondary to dystonia musculorum deformans is presented. OBJECTIVE: To describe a case of dystonia musculorum deformans with progressive spinal lordosis and its surgical treatment. SUMMARY OF BACKGROUND DATA: Four patients with correction of coronal spinal deformity associated with dystonia musculorum deformans have been reported in the literature. No reports of sagittal spinal deformity treated with surgical instrumentation and fusion were found. METHODS: A retrospective chart and radiographic review of a single case was conducted. RESULTS: Orthotic management and pharmacologic therapy with botulinum toxin injections were unsuccessful in controlling the deformity. Severe spinal lordosis (170 degrees ) from occiput to sacrum was corrected surgically, allowing an upright posture. CONCLUSION: Dystonia musculorum deformans is a rare condition resulting in coronal or sagittal plane deformities. When other treatment methods are unsuccessful, surgical instrumentation and arthrodesis may correct the deformity and improve function.

Gamma knife radiosurgery for torsion spasm. Report of two cases.

The authors report on two patients who underwent radiosurgery for torsion spasm and evaluate the efficiency of gamma knife radiosurgery (GKS) as an alternative treatment. The first patient was a 33-year-old woman with severe right-sided lower-limb torsion dystonia. The second patient was a 20-year-old man with right-sided upper-limb torsion dystonia. The target was located at the anterior portion of the ventrolateral nucleus. The maximum doses were 150 Gy and 145 Gy, respectively. Double isocenters with a 4-mm collimator were used. Follow up lasted for 18 months and 8 months, respectively. Both patients had excellent clinical improvement 2 to 3 months after GKS, respectively. The authors believe that GKS may be a safe and efficient treatment for torsion spasm.

Functional recovery after bilateral pallidotomy for the treatment of early-onset primary generalized dystonia.

This report describes the successful treatment of dystonia musculorum deformans with bilateral stereotactic pallidotomy in a 14-year-old girl in whom the dystonia was diagnosed when she was 7 years old. The patient presented with dystonia of the right upper extremity that progressed to generalized dystonia. Preoperatively, she required maximal assistance with all activities of daily living and transfers. She was not a functional ambulator. Postoperatively, she had remarkable functional recovery. At discharge, she was at modified independence level for all basic activities of daily living and required supervision for household ambulation. No postoperative complications were noted. We propose that bilateral stereotactic lysis of globus pallidus interna may be an alternative treatment for dystonia musculorum deformans. The technique of bilateral pallidotomy and theories of its effectiveness are discussed.

[The surgical results in patients with different forms of torsion dystonia]. / Rezul'taty khirurgicheskogo lecheniia bol'nykh s razlichnymi formami torsionnoi distonii.

The paper describes stereotactic operations made in 278 patients with different forms of torsion dystonia during 20 years. Late outcomes were studied and assessed in 130 patients. The duration of follow-ups was 3 to 23 years. The patients' mean age at surgery was 30.5 years. The indications for surgical treatment were ineffective medical treatment and progressive disease. Positive early and late postoperative outcomes were achieved in 93 and 70% of patients, respectively. Complications developed in 3.2 and 12.3% of patients after the first and second operations, respectively. The positive outcome depends on the form, etiology, the destructible structure or a complex of structures. Surgical treatment of patients with torsion dystonia by stereotactic operations on basal ganglia is an effective treatment that provides a steady-state positive result in 70% of patients in the late period.

Apraxia of eyelid opening after bilateral stereotaxic subthalamotomy.

The case of a patient with apraxia of eyelid opening and blepharospasm occurring during the course of idiopathic torsion dystonia and previously treated with stereotaxic subthalamotomy is presented. The anatomic basis of this lid movement disorder is suggested to be located in the rostral brain stem. There was a considerable amelioration after treatment with trihexyphenidyl.

Simultaneous bilateral pallidoansotomy for idiopathic dystonia musculorum deformans.

A 17-year-old Russian male with a 9-year diagnosed history of dystonia musculorum deformans manifested as severe tortipelvis, lordosis, and axial and appendicular spastic dystonia, refractory to medical therapy, is reported. This patient underwent a simultaneous bilateral pallidoansotomy with dramatic results. Postoperative evaluation revealed sustained alleviation of all dystonic symptoms and abnormal movements. Rapid recovery of useful strength in all limbs as well as dramatic improvement in coordination occurred. Bilateral posteroventral pallidotomy and pallidoansotomy in the past have proven effective in alleviation of all parkinsonian symptoms, including dyskinesia and dystonia, without the concurrent risk of intransigent side effects associated with bilateral thalamotomy or other stereotactic surgical procedures. Pallidoansotomy may prove to be the treatment of choice for idiopathic torsion dystonia and merits further investigation.

[The surgical treatment of muscle tonus disorders by the destruction of the input areas of the posterior spinal nerve roots]. / Khirurgicheskoe lechenie narushenii myshechnogo tonusa destruktsiei vkhodnykh zon zadnikh koreshkov spinnogo mozga.

Stereotactic cryodestruction of the subcortical ganglions for microdestruction of the inlets of the radices spinales was conducted in resistant to drug and surgical treatment patients with impaired muscular tension and spastic pain syndrome (infantile cerebral paralysis, dystonia musculorum deformans, postencephalitic spastic-hyperkinetic syndrome). A total of 8 patients aged 19-46 were treated. The destruction of the segments depended on the site of the tension impairment. In cervical, upper extremity, lumbar, lower extremity involvement the segments to be destroyed were, respectively: SV--SVII, SVIII, LII--LIII, LIV, LV and SI. The surgery aimed at breaking the centripetal nociceptive and myotactic tracts. The treatment reduced muscular hypertonicity and hyperkinesis, relieved spastic pain. The paper presents anatomic and neurophysiological grounds for the procedure application.

Stereotactic thalamotomy for dystonic patients.

A total of 54 patients (22 females and 32 males) with dystonia underwent thalamotomy. These patients consisted of 25 dystonia musculorum deformans (DMD) and 29 secondary dystonia cases. All of the patients were analyzed prospectively. Preoperative and postoperative symptoms were compared and grade. The target areas of thalamotomy were the ventral intermediate (Vim) and posterior ventral oral (Vop) nuclei. 59% of the patients showed more than 25% improvement, 23% were slightly improved cases (less than 25%), and 16% showed no change or their symptoms had worsened.

[The dynamic mental status of patients who have undergone stereotaxic destruction of the ventrolateral thalamic nuclei]. / Dinamika psikhicheskogo sostoianiia bol'nykh, perenesshikh stereotaksicheskuiu destruktsiiu ventrolateral'nykh iader talamusa.

Examined were 80 patients with parkinsonism and 20 patients torsional dystonia before and after stereotaxic cryodestruction of the ventrolateral thalamic nuclei. A set of tests was used to evaluate attention, memory, associative processes, generalization, comprehension to examine these patients. Only in the group of parkinson patients a reduction of these findings was noted (memory, perception, comprehension). All other mental activity types suffered similarly in all patients after the operations.

[Advances in the treatment of the dystonias]. / Avances en el tratamiento de las distonías.

Except in Wilson's disease, few secondary dystonias are susceptible to benefit from an aetiological treatment. The somatic distribution of dystonia often determines the therapeutic strategy. Thus, stereotactic surgery may be the treatment of choice for hemidystonia while anticholinergic medication may alleviate generalized dystonia, particularly in childhood. Finally, local infiltrations of botulinum toxin are particularly useful for various forms of local and segmental dystonia. Certain subsyndromes as myoclonic dystonia, levodopa sensitive dystonia and paroxysmal choreoathetosis may benefit from relatively specific treatment strategies.

[Advances in the treatment of the dystonias]. / Avances en el tratamiento de las distonías.

Except in Wilson's disease, few secondary dystonias are susceptible te benefit from an etiological treatment. The somatic distribution of dystonia often determines the therapeutic strategy. Thus, stereotactic surgery may be the treatment of choice for hemidystonia while anticholinergic medication may alleviate generalized dystonia, particularly in childhood. Finally, local infiltrations of botulinum toxin are particularly useful for various forms of local and segmental dystonia. Certain subsyndromes as myoclonic dystonia, levodopa sensitive dystonia and paroxysmal choreoathetosis may benefit from relatively specific treatment strategies.

[Our experience with 2220 stereotaxic operations]. / Nash opyt 2220 stereotaksicheskikh operatsii.

The article deals with the results of 2,220 stereotaxic operations carried out on 1,812 patients with various diseases of the central nervous system: 1,286 operations in parkinsonism, 439 in cerebral infantile paralysis, 150 in torsion dystonia (dystonia musculorum deformans), etc. The best results were produced in parkinsonism and dystonia musculorum deformans.

Applications and methodology for contemporary stereotactic surgery.

Stereotactic surgery was first described for functional exploration of animal brains in 1908. It has been used in human neurosurgery for almost forty years, primarily for the accurate placement of subcortical probes for the production of therapeutic lesions in the treatment of movement disorders and pain. After the introduction of L-Dopa in 1968, enthusiasm diminished for the technique. In the past ten years, primarily due to the development of new imaging technologies, stereotaxis has enjoyed a renaissance as new applications have been described. Stereotactic surgery may be utilized for neuro-ablative and neuro-augmentative procedures. It can also be useful in the diagnosis of brain tumours by stereotactic biopsy and for treatment of subcortical neoplasms by interstitial irradiation or computer-assisted stereotactic laser resection. With the development of computer technology, many new procedures, refinements of old procedures, and development of new applications are possible.