1/32. Italian family with cranial cervical dystonia: clinical and genetic study.A white Italian family affected by primary torsion dystonia (PTD) is described. The family phenotype most commonly presented with adult onset, cranial cervical involvement, and focal or segmental distribution without progression to generalization. Thirty-nine family members and nine spouses were studied. Five subjects received a diagnosis of definite PTD, three of probable PTD. Age at onset was in adulthood for all. In four definitely affected subjects, dystonia started in the cranial or cervical districts; in one it presented as writer's cramp. Familial writer's cramp also occurred in the family of the unrelated parent of the latter patient. The mean age at time of examination was 61.8 years in the individuals with a definite diagnosis; 60 in those with a probable diagnosis. At the time of examination, in most of the affected subjects, dystonia was focal; in three cases (two definitely and one probably affected), it was segmental. dna linkage analysis, although limited by the size of the family, suggested exclusion of linkage between the disease and known PTD loci (DYT6 and DYT7). The GAG deletion in the DYT1 gene was excluded in the proband and in the family member affected by writer's cramp.- - - - - - - - - - ranking = 1keywords = cramp (Clic here for more details about this article) |
2/32. Painful tonic/dystonic spasms in sjogren's syndrome.Three patients with sjogren's syndrome are presented in whom frequent tonic/dystonic spasms of the limbs developed during the course of the illness. These patients' clinical findings suggested spinal cord involvement, a localization that was confirmed by magnetic resonance imaging in two patients. In one patient the painful movements responded to treatment with phenytoin and in one other to baclofen. sjogren's syndrome should be considered in the differential diagnosis of conditions that produce tonic/dystonic limb spasms.- - - - - - - - - - ranking = 1.4398012959733E-5keywords = limb (Clic here for more details about this article) |
3/32. dystonia, botulinum neurotoxin, and the aviator.dystonia is both a symptom and the name for group of illnesses called the dystonias. The physical manifestation consists of sustained, involuntary contractions of the muscles in one or more parts of the body, resulting in twisting or distortion of that part of the body. For focal dystonias including torticollis, blepharospasm and spasmodic dysphonia, botulinum toxin injections have become the treatment of choice because of the ability of this toxin to sufficiently weaken the muscle to reduce the spasm but not so much as to cause paralysis. This paper involves the fate of four airmen all afflicted with a form of dystonia who had been reviewed in the Aeromedical certification Division of the FAA Civil Aeromedical Institute.- - - - - - - - - - ranking = 4.7877129599665E-5keywords = muscle (Clic here for more details about this article) |
4/32. Pallido-Luysio-Nigral atrophy revealed by rapidly progressive hemidystonia: a clinical, radiologic, functional, and neuropathologic study.Pallido-luysio-nigral atrophy (PLNA) is a rare neurodegenerative disease in which the clinical and radiologic correlates have not yet been clearly established. A 62-year-old man insidiously developed dystonic postures, choreoathetoid movements, slowness, and stiffness, which initially affected the right hand and foot and progressively spread to the entire right side. T2-weighted magnetic resonance imaging showed increased signal intensity in both left and right medial pallida and in the left substantia nigra. Tests using HMPAO-SPECT and FDG-PET demonstrated left cortical hyperperfusion and hypermetabolism, whereas the left lenticular nucleus was slightly hypometabolic. At age 65, abnormal movements and postures involved all four limbs and the axis causing major gait disturbances, and facial and bulbar muscles atrophied resulting in dysarthria, dysphagia, and impaired breathing. Diffuse amyotrophy and fasciculations also appeared. death occurred at age 66, 4 years after onset. At autopsy, severe bilateral neuronal loss and gliosis restricted to the pallidum, the subthalamic nucleus, the substantia nigra, and the hypoglossal nucleus were noted, accounting for the diagnosis of PLNA with lower motor neuron involvement. Progressive hemidystonia with adult onset represents an unusual clinical presentation for this disorder. Moreover, this observation indicates that a diagnosis of PLNA should be considered for specific magnetic resonance imaging, SPECT, and/or PET data, and suggests that in PLNA, pallidal dysfunction might play a key role in the dystonic presentation.- - - - - - - - - - ranking = 3.1137571279699E-5keywords = muscle, limb (Clic here for more details about this article) |
5/32. Pseudodystonic hand posturing contralateral to a metastasis of the parietal association cortex.A 56 year-old patient, with a history of surgically removed breast cancer three years earlier, presented with incoordination of hand movements while playing piano. Neurological examination disclosed mild position sensory loss and limb-kinetic apraxia of the distal part of the right upper extremity. The most conspicuous neurological sign was a dystonic posturing of the right hand, which was only elicited when the patient outstretched her arms with the eyes closed. MRI revealed a metastatic lesion involving the left parietal cortex. The association of focal dystonic postures with lesions of the parietal association cortex indicates that dystonia may feature damage of brain cortical areas far from the basal ganglia. In addition, this provides support to the hypothesis that impairment of sensory pathways may play a role in the origin of some hyperkinetic movement disorders, such as dystonia and athetosis.- - - - - - - - - - ranking = 7.1990064798665E-6keywords = limb (Clic here for more details about this article) |
6/32. Sporadic paroxysmal exercise induced dystonia: report of a case and review of the literature.Sporadic paroxysmal exercise induced dystonia (PEID) is a rare condition. So far only fifteen cases have been reported in the world literature. It is characterised by dystonic posture on prolonged exercise, which gets relieved with rest. In general, these are refractory to medical treatment. We report one such case, along with review of the literature. The lower limbs were spared and only right shoulder was tucked up with the head turning to right side. The duration of exercise necessary to bring out the dystonic posture gradually diminished with time, a feature not reported previously.- - - - - - - - - - ranking = 7.1990064798665E-6keywords = limb (Clic here for more details about this article) |
7/32. Focal myopathy as a cause of anterocollis in Parkinsonism.We present a patient with levodopa-responsive Parkinsonism who developed disproportionate anterocollis over a period of 4 to 5 weeks. A neurological evaluation, including EMG and muscle biopsy, demonstrated the presence of a focal myopathy typical of the so-called "dropped head syndrome" or "isolated neck extensor myopathy." Parkinsonian patients presenting with disproportionate anterocollis should be evaluated for focal myopathy, as this may represent one possible cause.- - - - - - - - - - ranking = 2.3938564799833E-5keywords = muscle (Clic here for more details about this article) |
8/32. The natural history of embouchure dystonia.Focal task-specific dystonias are unusual disorders of motor control, often affecting individuals who perform complex repetitive movements. Musicians are especially prone to develop these disorders because of their training regimens and intense practice schedules. Task-specific dystonia occurring in keyboard or string instrumentalists usually affects the hand. In contrast, there have been few descriptions of musicians with task-specific dystonia affecting the muscles of the face and jaw. We report detailed clinical observations of 26 professional brass and woodwind players afflicted with focal task-specific dystonia of the embouchure (the pattern of lip, jaw, and tongue muscles used to control the flow of air into a mouthpiece). This is the largest and most comprehensively studied series of such patients. patients developed embouchure dystonia in the fourth decade, and initial symptoms were usually limited to one range of notes or style of playing. Once present, dystonia progressed without remission and responded poorly to oral medications and botulinum toxin injection. patients with embouchure dystonia could be separated by the pattern of their abnormal movements into several groups, including embouchure tremor, involuntary lip movements, and jaw closure. dystonia not infrequently spread to other oral tasks, often producing significant disability. Effective treatments are needed for this challenging and unusual disorder.- - - - - - - - - - ranking = 4.7877129599665E-5keywords = muscle (Clic here for more details about this article) |
9/32. Treatment of dystonic clenched fist with botulinum toxin.Fourteen patients with "dystonic clenched fist" (three with Corticobasal Ganglionic Degeneration, seven with Parkinson's disease, and four with Dystonic-Complex Regional pain Syndrome) were treated with botulinum toxin A (BTXA, Dysport). The muscles involved were identified by the hand posture and EMG activity recorded at rest and during active and passive flexion/extension movements of the finger and wrist. EMG was useful in distinguishing between muscle contraction and underlying contractures and to determine the dosage of BTX. All patients had some degree of flexion at the proximal metacarpophalangeal joints and required injections into the lumbricals. The response in patients depended on the severity of the deformity and the degree of contracture. All patients had significant benefit to pain, with accompanying muscle relaxation, and palmar infection, when present, was eradicated. Four patients with Parkinson's disease and one patient with dystonia-Complex Regional pain Syndrome obtained functional benefit.- - - - - - - - - - ranking = 7.1815694399498E-5keywords = muscle (Clic here for more details about this article) |
10/32. hand orthosis as a writing aid in writer's cramp.Writer's cramp is a focal, task-specific dystonia of the hand and wrist. It primarily affects people who do a significant amount of writing, and causes difficulties in writing. We present five cases with writer's cramp who showed improvement in their writing ability with an applied hand orthosis.- - - - - - - - - - ranking = 2keywords = cramp (Clic here for more details about this article) |
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