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)

A 55-year-old woman with known retinitis pigmentosa for 25 years was progressively clumsy in gait and activities of daily living over the past 30 years. She was able to manage house work and social activities, but she developed swallowing disturbance associated with involuntary neck muscle spasm for 2 weeks, which brought her to our clinic on September 7, 1990. General physical examination was normal except for dry skin. Neurological examination was compatible with sensory-dominant polyneuropathy, showing distal dominant sensory impairment together with absent vibration sense and areflexia in lower limbs, but no gross muscular weakness. There were neck dystonia and bilateral poor visual acuity due to secondary optic atrophy of retinitis pigmentosa. The former responded to the combination of tiapride and trihexyphenidyl. She was admitted twice for further evaluation. Complete blood count and blood chemistry tests including lipids were all within normal limits, and so was cerebrospinal fluid. Pyruvate and lactate before and after exercise loading were also normal. Malignancy workup was negative. To our surprise, serum vitamin E level turned out very low (1.89 micrograms/ml), normal range being 4.7-20.3 micrograms/ml. Oral vitamin E administration test by 2g of alpha-tocopherol showed abnormal absorption curve followed fast clearance in serum. Stool was occasionally positive for fat corpuscles by Sudan III staining, but 99Tc-HSA leakage into the intestines was not detected.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A sporadic case of essential vitamin E deficiency manifested by sensory-dominant polyneuropathy and retinitis pigmentosa]. 782 14

Many instruments have been employed in recent years in order to quantify the posture and motion of the head in normal and pathological subjects. Evaluations of this type present many difficulties related to the influence of individual and external factors and to the accuracy of the system used. In patients with cervical dystonia (CD) the only rating scales currently used are semi-quantitative and subjective. More precise information on disease severity and response to the treatment is needed. Posture and motion of the head were evaluated by means of ELITE motion analyser (BTS, Milan, Italy) in 6 patients with the left laterocollis form of CD undergoing treatment with botulinum toxin (BTX). The method emerged as very useful for the quantification of the therapeutic response (which was more marked in motion than in posture). We found an inverse relationship between the degree of motion improvement and the restriction of motion before treatment.
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PMID:The position of the head in space: a kinematic analysis in patients with cervical dystonia treated with botulinum toxin. 1149 19