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)

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

We performed a neurochemical study of the brain of two unrelated patients, living in different continents, with neuroacanthocytosis. The levels of monoamines and their metabolites, gamma-aminobutyric acid and substance P, were measured in several brain areas and the monoamine metabolites in cerebrospinal fluid. The binding of 3H-spiperone to striatal membranes and to lymphocytes was also measured. Both patients had a progressive neurological disorder with onset in the third decade of life and characterized by a complex movement disorder, epilepsy, muscular wasting, and changes in behavior. The movement disorder initially manifested with oromandibular dystonia and limb chorea, but at the time of death was characterized by a severe dystonic syndrome. The chemical changes were similar in the two patients. The most important neurochemical findings were a depletion of dopamine and its metabolites in most brain areas, most notably in the striatum, and elevation of norepinephrine levels in the putamen and globus pallidus. Substance P was markedly reduced in the striatum and substantia nigra. Our findings may provide clues to the neurochemical mechanisms underlying dystonia.
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PMID:Neurochemical findings in neuroacanthocytosis. 290 27

This study was undertaken to characterize the food intake, current feeding situation and nutritional status of children with cerebral palsy and myelomeningocoele. Thirty children with cerebral palsy and 14 with myelomeningocoele were investigated. The children with cerebral palsy were subgrouped into those with diplegia (11 children), dystonia (10 children), hemiplegia (6 children) and ataxia (3 children). Information was obtained from medical records, current dietary recording and clinical and anthropometric examinations. Feeding problems, low energy intake and wasting were frequent among the children with cerebral palsy, particularly those with the dystonic form. Children with myelomeningocoele gave the impression of being overnourished, despite a seemingly relatively low energy intake. It is clear that nutritional and feeding aspects should receive particular attention in the habilitation of children with various disabilities.
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PMID:Feeding and nutritional problems in children with cerebral palsy and myelomeningocoele. 824 37