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)

Type 3 neuronopathic Gaucher's disease (GD3) is phenotypically heterogeneous. In many GD3 patients, progressive myoclonus and dementia dominate the illness, with death secondary to progressive CNS disease. We have designated this group as GD3a. We studied 14 children with Gaucher's disease, isolated horizontal supranuclear gaze palsy, and aggressive systemic disease, and designated this group as GD3b. In comparison with 13 children with type 1 non-neuronopathic Gaucher's disease, the GD3b children presented earlier, and were shorter, underweight, and more prone to cardiopulmonary, hepatic, and skeletal complications. One-half of the children died in childhood or adolescence of systemic complications. Patients with at least one copy of the mutation that causes substitution of asparagine for serine at amino acid 370 of glucocerebrosidase did not develop neurologic signs. Patients homoallelic for the mutation causing substitution of leucine for proline at position 444 had severe systemic disease; neurologic signs were frequently, but not invariably, present. Early diagnosis and timely enzyme replacement therapy promise to improve the prognosis in GD3b.
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PMID:Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease. 841 56

Myoclonus, an involuntary movement disorder reveals itself with a wide variety of short muscle twitches or jerks, and may cause severe disability. From a clinical perspective, it is sometimes difficult to discriminate myoclonus from other central movement disorders. Moreover, myoclonus has a spectrum of causes including rare neurological syndromes and uncommon manifestations of systemic disease. Its pathogenesis is only partially understood. Neurophysiologic investigations suggest a close relationship between certain types of myoclonic jerking and epilepsy. The use of anticonvulsants for treatment of myoclonus has its basis in such observations and empirical evidence. Often high doses or a combination of drugs, or both are required, with, however, serious side effects.
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PMID:[Myoclonus]. 1722 14