Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of familial essential myoclonus was reported with electrophysiological studies. A 58-year-old female presented with involuntary movement (myoclonic jerk) since age 6 years. At the age over 50, she developed difficulty in writing and fine finger movements. Two years ago, the diagnosis of hyperthyroidism was made, but she did not take any anti-thyroid medication. She was admitted to our hospital for further evaluation of myoclonus. On family history, her grandson (4-years-old) had myoclonus. On general physical examination, she showed a diffuse goiter. On neurological examination, she showed spontaneous myoclonus in the face, neck, trunk and the proximal limb muscles, especially in the left upper and right lower extremities. The myoclonus was exacerbated with auditory stimulation and emotional tension, but there was no temporal relationship between each stimulus and myoclonus. There was no myoclonus during sleep. Finger-to-nose test showed coarse intention myoclonus. Laboratory examinations including lysosomal enzyme assay revealed no abnormalities except for the decrease in total cholesterol (118 mg/dl) and the increase in serum lactate (19.7 mg/dl). The serum concentration of thyroxin was 18.4 micrograms/dl, that of triiodothyronine 3.0 ng/ml, and that of thyroid stimulating hormone (TSH) 0.027 microIU/ml. Anti-thyroglobulin antibody and anti-microsomal antibody were positive (X100, X6400). Neurological laboratory tests were normal including cerebrospinal fluid, peripheral nerve conduction study, electromyogram (EMG), muscle biopsy, cranial computed tomography and magnetic resonance imaging, and positron emission tomography. Electron transport system of the biopsied muscle was normal. So, we made a diagnosis of familial essential myoclonus and hyperthyroidism. In the electrophysiological studies, the electroencephalogram (EEG) was within normal limits.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[A case of familial essential myoclonus--electrophysiological study]. 176 62

We report a 66-year-old woman with Hashimoto's encephalopathy who showed rapidly developing cognitive deficits, inactivity, and gait disturbance without involuntary movements or convulsions. She had had right-sided hemiparesis and dysarthria caused by a lacunar infarction and had been admitted to our hospital for 2 weeks. Although the dysarthria and hemiparesis gradually improved, difficulty in walking, disorientation, and drowsiness developed 2 months after discharge. Upon readmission, the patient was alert but apathetic and sometimes sleepy. The right upper and lower limbs showed mild weakness, which was considered to be due to the previous infarction. Cerebrospinal fluid showed mild elevation of protein without pleocytosis. An electroencephalogram was normal, and a magnetic resonance imaging of the brain showed only the old lacunar infarction. Titers of antithyroglobulin antibodies and levels of thyroid stimulating hormone in serum were elevated. We made a diagnosis of Hashimoto's encephalopathy and treated the patient with high-dose corticosteroids. Within 1 week, her mental status improved and she was able to walk. Generalized seizure, myoclonus, and tremor, which are characteristic of Hashimoto's encephalopathy, never developed. The findings in this patient suggest that Hashimoto's encephalopathy, a treatable condition, should be included in the differential diagnosis of dementia.
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PMID:[A patient with Hashimoto's encephalopathy showing subacute global cognitive dysfunction]. 1450 57