1/17. 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.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
2/17. 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.- - - - - - - - - - ranking = 1.5828708183399keywords = limb (Clic here for more details about this article) |
3/17. 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.- - - - - - - - - - ranking = 2keywords = muscle (Clic here for more details about this article) |
4/17. deep brain stimulation of the globus pallidus internus (GPI) for torsion dystonia--a report of two cases.Generalized dystonia is known as a type of movement disorder in which pharmacotherapeutic options are very limited. deep brain stimulation (DBS) is well established for Parkinson's disease (PD) and tremor dominant movement disorders. We report on two cases of generalized dystonia which were successfully treated by chronic high frequency stimulation in the globus pallidus internus (GPI). Two 26 and 27 years old males suffered from severe torsion dystonia and multisegmental dystonia of the lower limbs. Case 1 is a familiar type of dystonia (DYT1 positive). The onset of symptoms in both cases was at age 7. The complaints were initially treated with orally administered benzodiazepines, anticholinergic drugs, later by baclofen and L-DOPA. However there was no response. Case 2 was a patient with a history of left side dominated dystonia since the age of 8. It was first diagnosed as a psychogenic movement disorder. Prior to surgery he was treated with L-DOPA, anticholinergics, baclofen without any effect. There was only a limited effect on high doses of diazepam. The patient is DYT1 negative. The target point was on both sides the GPI. Intraoperative computerized tomography (CT) and ventriculography (VG) were used for target setting. Furthermore microrecordings were helpful to ensure the exact electrode position. Surgery was performed under analgosedation. Two weeks after surgery we first observed a relief of symptoms in both cases. A significant reduction in the Burke-Fahn-Marsden-dystonia Movement Rating Scale was observed at the 6 month follow-up (case 1: 95%, case 2: 80%). In case 1 a slight dystonic movement of the left ankle was the only remaining symptom under stimulation. The medication was continuously reduced. At the 24 month follow-up the effect of stimulation remained unchanged. However high stimulation parameters are required to maintain an optimal effect (mean 3.5 V, 400 microseconds, 145 Hz).- - - - - - - - - - ranking = 0.79143540916995keywords = limb (Clic here for more details about this article) |
5/17. Primary torsion dystonia due to the Tor1A GAG deletion in an Irish family.BACKGROUND: Early, limb-onset primary torsion dystonia (PTD) is commonly due to a trinucleotide GAG deletion in the TOR1A (DYT1) gene on chromosome 9q34. The majority of carriers of this mutation conform to a characteristic phenotype that is similar in different ethnic populations. AIM: To describe the clinical features of affected members of a large Irish family with PTD due to the TOR1A deletion. methods: Fourteen consenting family members from three generations were examined according to a standardised protocol. RESULTS: Five affected individuals were identified. Two had a somewhat atypical phenotype with focal and segmental upper-limb dystonia without further progression. CONCLUSION: The authors describe the clinical features of PTD due to the TOR1A GAG deletion in an Irish family illustrating the presence of intrafamilial phenotypic variability.- - - - - - - - - - ranking = 1.5828708183399keywords = limb (Clic here for more details about this article) |
6/17. Autosomal recessive, DYT2-like primary torsion dystonia: a new family.The authors report the clinical characteristics of a Sephardic Jewish kindred with autosomal recessive DYT2-like primary torsion dystonia. Three siblings had childhood onset of limb dystonia, and slow progression to generalized dystonia with predominant cranio-cervical involvement. There were no other abnormal signs, apart from dystonia and jerky tremor over a 12-year follow-up. All investigations for other causes of primary and secondary dystonia had normal results.- - - - - - - - - - ranking = 0.79143540916995keywords = limb (Clic here for more details about this article) |
7/17. Phenotypic characterization of DYT13 primary torsion dystonia.We describe the phenotype of DYT13 primary torsion dystonia (PTD) in a family first examined in 1994. A complete neurological evaluation was performed on all available family members: 8 individuals were definitely affected by dystonia. The family was re-evaluated in March 2000: at that time, 3 more individuals had developed symptoms of dystonia. Inheritance of PTD was autosomal dominant, with affected individuals spanning three consecutive generations and male-to-male transmission. Age at onset ranged from 5 to 43 years. Onset occurred either in the craniocervical region or in upper limbs. Progression was mild, and the disease course was benign in most affected individuals; generalization occurred only in 2 cases. We did not find anticipation of age at onset or of disease severity through generations. Most subjects presented with jerky, myoclonic-like dystonic movements of the neck or shoulders. DYT13-PTD is an autosomal dominant disease, with incomplete penetrance (58%). Clinical presentation and age at onset were more variable than in DYT1-PTD, and the neck was involved in most of those affected. Moreover, the individuals with generalised dystonia were not severely disabled and were able to lead independent lives. To date, this is the only family with DYT13-PTD.- - - - - - - - - - ranking = 0.79143540916995keywords = limb (Clic here for more details about this article) |
8/17. Caesarean section in a patient with torsion dystonia.We present a case of torsion dystonia in a 35-yr-old primigravida who presented for a Caesarean section under general anaesthesia. She had limb contractures and severe kyphoscoliosis associated with limited respiratory reserve and function. General anaesthesia was induced using thiopental and divided doses of mivacurium for rapid sequence induction. After the delivery of a healthy male baby, she received i.v. morphine and bilateral iliohypogastric, ilioinguinal blocks and had an uneventful recovery. Technical issues of supine positioning, intubation and respiratory support need to be considered during anaesthesia planning. Although regional anaesthesia is commonly offered for caesarean section, maternal compromise and technical factors may preclude this approach.- - - - - - - - - - ranking = 0.79143540916995keywords = limb (Clic here for more details about this article) |
9/17. Atypical phenotypes and clinical variability in a large Italian family with DYT1-primary torsion dystonia.The GAG deletion in the DYT1 gene usually causes a typical form of primary torsion dystonia (PTD) with early onset in a limb, rapid generalization, and sparing of cranial-cervical muscles, but atypical phenotypes have often been reported. Here, we describe a large DYT1 Italian family with phenotypically heterogeneous PTD that recapitulates all the atypical features associated with the DYT1 mutation, including late age at onset, focal or segmental phenotypes, onset or spreading of dystonia to the cranial-cervical muscles. Of 38 healthy family members, 15 also carried the DYT1 mutation, with an estimated penetrance of 21%. A literature review of atypical familial cases of DYT1-PTD showed that late onset, cervical involvement, and limited progression of dystonia are features frequently seen in DYT1 families. However, nearly all of these atypical patients fall within at least one of the clinical categories that best predict the DYT1 carrier status, namely, early onset, onset in a limb, and family history positive for early-onset dystonia.- - - - - - - - - - ranking = 3.5828708183399keywords = muscle, limb (Clic here for more details about this article) |
10/17. Partial cytochrome b deficiency and generalized dystonia.An 18-year-old female had clinical features of idiopathic torsion dystonia with bilateral hypodense putaminal lesions on computed tomography. Mitochondrial encephalomyopathy was suspected because of persistent lactic acidemia and myopathy. Studies of oxidative metabolism on isolated skeletal muscle mitochondria revealed partial cytochrome b deficiency indicating a defect in the cytochrome b- c1 complex. This finding represents a unique, multisystem syndrome of progressive dystonia, putaminal degeneration, myopathy, and mitochondrial cytochrome b deficiency. Mitochondrial metabolic disorders may be a cause of torsion dystonia when other known associated factors are absent.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
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