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1/70. Phenotypic variability of the DYT1 mutation in German dystonia patients.

    Primary dystonia is a clinically and genetically heterogeneous movement disorder characterized by sustained involuntary muscle contractions causing repetitive movements and/or abnormal postures. Recently, the gene locus (DYT1) and mutation responsible for a substantial number of cases suffering from early-onset primary dystonia was described. Here we report 2 German families and 1 sporadic patient with early-onset dystonia due to the DYT1 mutation in order to illustrate the variability of clinical manifestation within this molecularly defined entity. We demonstrate that writer's cramp or focal cervical dystonia is a clinical presentation of DYT1 as well as generalized dystonia. ( info)

2/70. 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. ( info)

3/70. Striatal dopamine in early-onset primary torsion dystonia with the DYT1 mutation.

    Although nigrostriatal dopaminergic dysfunction has been suggested in early onset primary torsion dystonia (PTD) with the DYT1 mutation, the actual status of brain dopamine (DA) is unknown. In a DYT1 mutation-positive autopsy patient with PTD, we found that nigral cellularity was normal and that subregional striatal DA levels were within the control range, except for those in the rostral portions of the putamen and caudate nucleus (50% to 54% of control means). Our data suggest that the DYT1 mutation is not associated with significant damage to the nigrostriatal DA system, in keeping with the absence of parkinsonism and levodopa response in this disorder. ( info)

4/70. Integrated EMG feedback in the management of spasmodic torticollis and focal dystonia: a prospective study of 80 patients.

    In summary, then, without consideration of specific circuits or transmitter agents, one can conceive of a hypothetical model that involves both learning and the functional nature of the defect in torticollis and focal dystonia to describe the results obtained. The model must be further elaborated upon and tested, preferably in a quantitative manner. Naturally, the specific finding of a defective transmitter agent (e.g., GABA) such as described in parkinsonian syndrome (dopamine) or the interruption of a specific pathway that causes and improves a dyskinesia is desirable. In this chapter we have described the use of integrated EMG feedback for the treatment of focal dystonia or spasmodic torticollis. Although we have achieved significant results, it remains clear that further research in the treatment of these disorders is required. However, since this treatment does not require medication or surgery and the possibility for significant improvement is greater than 40%, it should be attempted in patients with focal dystonia or torticollis prior to other forms of therapy. SFT should be considered as a standard mode in the medical armamentarium used for the treatment of these disorders, either primarily or in conjunction with other forms of medical, surgical, and physical therapy. ( info)

5/70. Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration.

    Early onset torsion dystonia (DYT1) is a dominantly inherited dystonia caused by a deletion of three bases, GAG, coding glutamic acid, in chromosome 9q34. The protein coded by this gene was named as torsin A. DYT1 is common among the Ashkenazi Jewish population, but has been thought to be rare among Japanese. Among the idiopathic torsion dystonias being followed in this clinic, we found five families with DYT1 by gene analysis. This is the first report of genetically proven Japanese DYT1.The clinical features of five proband cases were divided into two types. One type is postural dystonia with marked trunkal torsion, and the other is action dystonia associated with violent dyskinetic movements. The affected family members in the upper generations presented with focal or segmental dystonia; it was postural dystonia of the legs in the former, and writer's cramp or tremor of the arms in the latter families. There was an asymptomatic carrier in the upper generation. Anticipation in the age of onset and severity of the disease was observed in all families. Medical treatment, including anticholinergics and levodopa, did not show apparent effects, while stereotactic thalamotomy to the nucleus ventralis lateralis (VL) or ventralis intermedius (Vim), with or without posterior ventral pallidotomy, were effective with action dystonia, but not postural dystonia. This study suggests the existence of at least two phenotypes in DYT1, in which different pathways of the basal ganglia are involved. ( info)

6/70. 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. ( info)

7/70. Oral rehabilitation using osseointegrated implants in a patient with idiopathic torsion dystonia.

    Idiopathic torsion dystonia is a motor syndrome characterized by dystonic movements and postures in the absence of other neurologic deficits. The condition involves prolonged spasms of muscle contraction that distort the body into typical postures. Such distortions involving the head and the neck make conventional denture use in edentulous patients very difficult. The present paper reports on a patient with idiopathic torsion dystonia who was treated with a mandibular overdenture supported by endosteal implants, which enabled the establishment of a stable occlusion and improved the dynamics of the masticatory muscles for chewing. ( info)

8/70. 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. ( info)

9/70. DYT1 mutation in primary torsion dystonia in a Serbian population.

    Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. A GAG deletion at position 946 in the DYT1 gene is responsible for most cases of autosomal dominant early-onset PTD. We analysed the DYT1 mutation in 50 patients from a Serbian population, selected according to the proposed guidelines for diagnostic testing: (a) 38 patients with PTD onset < 26 years, and (b) 12 patients with the disease onset /- 26 years, but with at least one affected family member with early-onset dystonia. Only three apparently sporadic patients among the 50 individuals tested were positive for the GAG deletion in the DYT1 gene: one with typical, generalized, one with long-lasting, non-progressive segmental, and one with multifocal dystonia. Molecular analysis of relatives in 2 families revealed that the lack of family history was due to reduced penetrance. ( info)

10/70. Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia.

    We report on an Italian kindred with adult-onset primary torsion dystonia (PTD). A detailed clinical examination of the six definitely affected family members revealed a mild, purely focal phenotype. The disease involved only one body part (eyes, neck, or arm). PTD in this family was not linked to the known disease loci (DYT1, DYT6, DYT7, and DYT13), and the 3-bp deletion in the DYT1 gene was also excluded. These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family. ( info)
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