Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Nineteen cases are described, including 12 cases from three different families and 7 nonfamilial cases, in which multisystem neurological disease was associated with acanthocytosis in peripheral blood and normal plasma lipoproteins. Mild acanthocytosis can easily be overlooked, and scanning electron microscopy may be helpful. Some neurologically asymptomatic relatives with significant acanthocytosis were identified during family screening, including some who were clinically affected. The mean age of onset was 32 (range 8-62) yrs and the clinical course was usually progressive but there was marked phenotypic variation. Cognitive impairment, psychiatric features and organic personality change occurred in over half the cases, and more than one-third had seizures. Orofaciolingual involuntary movements and pseudobulbar disturbance commonly caused dysphagia and dysarthria that was sometimes severe, but biting of the lips or tongue was rarely seen. Chorea was seen in almost all symptomatic cases but dystonia, tics, involuntary vocalizations and akinetic-rigid features also occurred. Two cases had no movement disorder at all. Computerized tomography often demonstrated cerebral atrophy. Caudate atrophy was seen less commonly, and nonspecific focal and symmetric signal abnormalities from the caudate or lentiform nuclei were seen by magnetic resonance imaging in 3 out of 4 cases. Depression or absence of tendon reflexes was noted in 13 cases and neurophysiological abnormalities often indicated an axonal neuropathy. Sural nerve biopsies from 3 cases showed evidence of a chronic axonal neuropathy with prominent regenerative activity, predominantly affecting the large diameter myelinated fibres. Serum creatine kinase activity was increased in 11 cases but without clinical evidence of a myopathy. Postmortem neuropathological examination in 1 case revealed extensive neuronal loss and gliosis affecting the corpus striatum, pallidum, and the substantia nigra, especially the pars reticulata. The cerebral cortex appeared spared and the spinal cord showed no evidence of anterior horn cell loss. Two examples of the McLeod phenotype, an X-linked abnormality of expression of Kell blood group antigens, were identified in a single family and included 1 female. The genetics of neuroacanthocytosis are unclear and probably heterogeneous, but the available pedigree data and the association with the McLeod phenotype suggest that there may be a locus for this disorder on the short arm of the X chromosome.
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PMID:Neuroacanthocytosis. A clinical, haematological and pathological study of 19 cases. 199 79

We describe a 62-year-old patient who presented with ataxia and dystonia with mild dementia and was shown at autopsy to have Creutzfeldt-Jakob's disease. Movement disorders may be the presenting feature of Creutzfeldt-Jakob's disease, and this entity should be considered in the differential diagnosis of an otherwise obscure movement disorder even when the typical electroencephalographic pattern is absent.
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PMID:Creutzfeldt-Jakob's disease presenting with ataxia and a movement disorder. 205 7

We studied 300 patients, 61% women, with mean age 49.7 years and mean duration of dystonia 7.8 years, to determine the demographic and clinical characteristics of cervical dystonia (CD) and its relationships to other movement disorders. Torticollis was present in 82%, laterocollis in 42%, retrocollis in 29%, and anterocollis in 25%; however, the majority (66%) had a combination of these abnormal postures. Scoliosis was present in 39%, local pain reported by 68%, and 32% had evidence of secondary cervical radiculopathy. In addition to CD, 16% of patients had oral dystonia, 12% mandibular dystonia, 10% hand/arm dystonia, and 10% had blepharospasm. Tremor was noted in 71% of patients; head-neck tremor was present in 60%, and tremor in other body regions was present in 32%. A family history of a movement disorder was present in 44% of the CD patients. Tardive dystonia was the cause in 6%; 11% had posttraumatic dystonia. Anticholinergic drugs provided moderate improvement in 33% of patients, but local intramuscular botulinum toxin injections relieved CD, local pain, or both in over 90% of all treated patients.
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PMID:Cervical dystonia: clinical findings and associated movement disorders. 206 38

Movement disorders, mostly dystonia, sometimes occur in heterozygotes for Wilson's disease (WD). A patient with metabolic abnormalities suggestive of heterozygote for WD and dystonia is reported. His niece showed the typical neurological and metabolic abnormalities of WD. This rare coincidence and the etiopathogenic mechanisms involved are discussed.
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PMID:[Association of Wilson's disease with non wilsonian extrapyramidal syndrome in the same family]. 209

Movement disorders are subdivided based on a variety of criteria. One useful and popular approach to movement disorders, based on clinical phenomenology, categorizes these disorders into two groups, those displaying a poverty of movement (akinesia) and those displaying excessive movement (hyperkinesia). This article discusses diagnosis and treatment of the latter. By necessity, certain hyperkinesias such as hyperexplexia, akathisia, and restless leg syndrome are omitted or only briefly discussed. The major hyperkinesias, dystonia, tremor, tics, chorea (including tardive dyskinesia and ballism), and myoclonus are reviewed and a guide to practical management emphasizing symptomatic treatment is presented.
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PMID:Treatment of hyperkinetic movement disorders. 218 Dec 68

We evaluated magnetic resonance image (MRI) in 21 cases of hereditary spinocerebellar degenerations (SCD) of autosomal dominant trait. By the discriminant formula based on size of the cerebellar vermis and ventral pons, which was reported in our previous study, the patients were classified into three types. Group 1 included the cases with atrophies in the vermis and pons; OPCA type. Group 2 showed vermian atrophy and less significant atrophy in pons; LCCA type. And Group 3 was no significant atrophies both in vermis and pons. Cases in Group 1 were furthermore divided into two groups according to width of the midbrain tegmentum. Group 1A, with normal midbrain tegmentum, was consisted of five cases. Four cases were diagnosed as Menzel type OPCA. Another case showed various clinical symptoms and relatively mild atrophies for his duration of illness. His family members were classified to Group 3. Seven cases in Group 1B showed reduced midbrain tegmentum. Four cases showed ataxia, spasticity, ocular symptoms, bladder dysfunction and amyotrophy with or without fasciculation, and they seemed to be a special type of SCD mimicking Joseph disease. One case showed bulging eyes, ocular movement palsy and dystonia. However, his sister manifested only ataxia with very mild ocular movement disorder. Their MRI demonstrated severe atrophies in the cerebellum, pons and afferent cerebellar peduncli, and this pedigree was thought to be Menzel type OPCA with various associated disorders. Another case was clinically diagnosed as dentate-rubro-pallido-luysian atrophy. Group 2 was consisted of 6 cases who were clinically diagnosed as Holmes type LCCA. MRI demonstrated medial dominant cerebellar atrophy.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An MRI study of hereditary spinocerebellar degenerations]. 222 53

Dystonia musculorum deformans (DMD) is an idiopathic movement disorder which usually involves pediatric age group and progresses to the generalized type. On the contrary in adult-onset DMD, dystonia is usually confined to an upper extremity and its clinical course is benign. The authors report seven patients with adult-onset DMD whose initial symptom was confined to the neck. Diagnosis of idiopathic spasmodic torticollis had been made in all of them. Average ages at the onsets of torticollis and extranuchal dystonia were 49 +/- 13 and 54 +/- 9 years (mean +/- SD) respectively. The duration between these onsets was 2-3 years in five patients and 10-17 years in two younger patients. Two patients finally developed generalized dystonia and one patient became hemidystonic type. These findings suggest that some patients diagnosed as idiopathic spasmodic torticollis are in an early stage of DMD and that this particular type progresses more likely to the generalized form than other types of adult-onset DMD.
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PMID:[Torticollis as an initial symptom of adult-onset dystonia musculorum deformans]. 224 82

We present 43 patients with reflex sympathetic dystrophy (RSD) who manifested abnormalities of movement. The patients have focal dystonia, weakness, spasms, tremor, difficulty initiating movement, and increased tone and reflexes. These motor signs and symptoms may precede other manifestations of the illness by weeks or months. They most frequently, but not invariably, occur concomitantly with sudomotor or vasomotor changes and pain. Lioresal is effective in reducing spasms. Early in the course of RSD, the motor manifestation may be alleviated by intense sympathetic blockade or sympathectomy. In many patients, the movement disorder becomes independent of sympathetic innervation.
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PMID:The movement disorder of reflex sympathetic dystrophy. 239 45

Profile and variation of gross motor disability and neural impairments were studied in a series of 30 women, aged 22-44 years, fulfilling the diagnostic criteria for the Rett syndrome (RS). The sequential development of neurological signs and a movement disorder causing immobility in 80% were found. On the basis of acquired and sustained walking ability, the women could be divided into three groups: one comprising those 20% still walking (group III), one those 60% previously walking (group IVA) and the third those 20% who had never developed walking ability (group IVB). Spastic signs, seldom prominent, were found in all the three groups, while dystonic signs were most common in those previously walking, and weakness and wasting in the group that never acquired that skill. Early progressive scoliosis, peroneal weakness and excavated feet, interpreted as lower motor neuron signs mainly due to spinal tract impairment, were most extensive among those never able to walk. Loss of walking was considered a consequence of deranging combinations of weakness and dystonia. The patterns of neuromotor disturbances are discussed in relation to other manifestations of RS.
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PMID:The Rett syndrome: gross motor disability and neural impairment in adults. 234 19

Primary torsion dystonia is an idiopathic movement disorder presumably caused by abnormal function of the basal ganglia. The disorder may be inherited either as an autosomal dominant, autosomal recessive, or X-linked recessive trait. At least six forms of autosomal dominant torsion dystonia can be distinguished clinically. Linkage analysis in one form of autosomal dominant torsion dystonia permits the assignment of a "torsion dystonia locus" to the long arm of chromosome 9.
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PMID:The genetics of primary torsion dystonia. 240 52


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