Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical pharmacological, and neuroradiological observations in six patients with spontaneous blepharospasm-oromandibular dystonia (Meige's) syndrome are recorded. This group consisted of five males and one female, mean age at onset being 50.3 years. The duration of symptoms ranged from three months to 12 years, three patients having had symptoms for over four years. The dyskinesia was arrhythmic and asymmetrical in the orbicularis oculi and masseter muscles electrophysiologically. Pharmacological studies evinced no consistent response to parenteral physostigmine, no response to oral levodopa and no significant improvement in the dyskinesia following oral haloperidol. Lumbar air encephalogram was done in five patients, and showed frontal cortical atrophy without ventricular dilation in three. It is concluded that Meige's syndrome is a distinct nosological entity, and that physostigmine test is unlikely to be helpful in the differential diagnosis from neuroleptic-induced tardive dyskinesia. Neurotransmitter imbalance in the basal ganglia in this disorder remains to be established, and at present there is no satisfactory drug treatment for this progressively disabling movement disorder.
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PMID:Meige's syndrome: clinical, pharmacological and radiological observations. 627 56

Corticobasal degeneration (CBD) is an uncommon, sporadic, neurodegenerative disorder of mid- to late-adult life. We describe a further example of the pathologic heterogeneity of this condition. A 71-year-old woman initially presented dysarthria, clumsiness, progressive asymmetric bradykinesia, and rigidity in left arm. Rigidity gradually involved ipsilateral leg; postural instability with falls, blepharospasm, and dysphagia subsequently developed. She has been previously diagnosed as unresponsive Parkinson's Disease. At our clinical examination, she presented left upper-arm-fixed-dystonia, spasticity in left lower limb and pyramidal signs (Babinski and Hoffmann). Brain MRI showed asymmetric cortical atrophy in the right frontotemporal cortex. Neuropsychological examination showed an impairment in visuospatial functioning, frontal-executive dysfunction, and hemineglect. This case demonstrates that association of asymmetrical focal cortical and subcortical features remains the clinical hallmark of this condition. There are no absolute markers for the clinical diagnosis that is complicated by the variability of presentation involving also cognitive symptoms that are reviewed in the paper. Despite the difficulty of diagnosing CBD, somatosensory evoked potentials, motor evoked potentials, long latency reflexes, and correlations between results on electroencephalography (EEG) and electromyography (EMG) provide further support for a CBD diagnosis. These techniques are also used to identify neurophysiological correlates of the neurological signs of the disease.
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PMID:An unusual cause of dementia: essential diagnostic elements of corticobasal degeneration-a case report and review of the literature. 2178