Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Extrapyramidal tremor and epilepsy uncommon in Klinefelter syndrome were found in a 30 year old patient. CT scans revealed partially empty sella and subcortical cerebral atrophy. Chromosomal studies showed the karyotype 47, XXY.
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PMID:[Epilepsy and tremor in the XXY syndrome]. 130 14

Graves' disease was found in a 41-year-old, married male patient with Klinefelter's syndrome. The patient began having finger tremor 5 years previously, and developed palpitation and weight loss 3 months prior to examination. He had a diffuse goiter, exophthalmos, and atrial fibrillation. Plasma levels of T3, T4 and free T4 were 2.8 ng/ml, 16.6 micrograms/dl and 4.5 ng/dl respectively. [123I] uptake was 53%, and TSH receptor antibody was 75%. Although he had no gynecomastia, his general physical appearance was that of typical eunuchoism. Chromosome studies showed a karyotype of 47,XXY. A diagnosis of Graves' disease associated with Klinefelter's syndrome was made.
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PMID:A case of Graves' disease associated with Klinefelter's syndrome. 212 24

Clinical features were compared of a patient with the 48,XXYY karyotype and a case of 47,XXY/48,XXYY mosaicism. In the former patient tremor of the upper extremities of unclear aetiology was present. In both cases epilepsy was suspected. Similarly as in other cases of 48,XXYY karyotype the first patient had skeletal anomalies, abnormalities of dermatoglyphics and personality changes. These features are rarely found in Klinefelter syndrome. The differences in relation to the syndrome were less evident in the case of mosaicism 47,XXY/48,XXYY.
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PMID:[Neurological aspects of two patients with non-mosaic and mosaic polysomy of the X and Y chromosomes]. 1039 34

Deep brain stimulation (DBS) of the ventralis intermedius nucleus (Vim) is a safe and effective treatment for essential tremor. Bipolar disorder and essential tremor had each been reported to occur in association with Klinefelter syndrome but the three diseases have been reported to occur together in only one patient. The genetic basis and natural history of these disorders are not completely understood and may be related rather than coincidental. The authors report on a 23-year-old man with Klinefelter syndrome (47,XXY) and bipolar disorder who was treated successfully with unilateral DBS of the thalamic Vim for essential tremor.
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PMID:Efficacy of unilateral deep brain stimulation of the thalamic ventralis intermedius nucleus in a patient with bipolar disorder associated with Klinefelter syndrome and essential tremor. Case report. 1088 15

Tremor in Klinefelter's syndrome is believed to be essential tremor since the publication of "Klinefelter's syndrome and essential tremor" in 1969. However, the author also stated that tremor in Klinefelter's syndrome might differ from essential tremor. A 71-year-old man with Klinefelter's syndrome who suffers from postural hand tremor is described. The electromyogram indicated lower motor neuron disturbance and chronic neurogenic change. The muscle biopsy indicated neurogenic muscle atrophy. Upon testosterone administration, the amplitude of tremor was reduced and a gradual improvement in handwriting was observed. The tremor in this patient was different from essential tremor. The foresight by Baughman in 1969 proved to be true in this patient. This case report provides new insights into the pathogenesis and treatment of tremor in Klinefelter's syndrome, which would benefit patients who suffer from the tremor.
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PMID:Tremor in Klinefelter's syndrome improved by testosterone administration. 1959 93