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)

The leukodystrophies are degenerative diseases that involve primarily the white matter of the brain. The most common leukodystrophies result from known disturbances in the synthesis or catabolism of myelin such as a block in the catabolism of sulphatides and of galactocerebrosides, respectively, in metachromatic leukodystrophy and in Krabbe disease, or from synthesis of an abnormal proteolipid protein in Pelizaeus-Merzbacher disease. The cause of white matter involvement in other leukodystrophies remains unknown even though metabolic anomalies, such as accumulation of acetylaspartic acid in Canavan disease, have been demonstrated. Common clinical features of the leukodystrophies include neurological deterioration following a period of normal development, predominant involvement of motor function at least initially, and absence of convulsions or myoclonus. Imaging-especially magnetic resonance-shows changes in density or signal from central white matter. Most leukodystrophies feature suggestive symptoms and signs such as effects on peripheral nerves' myelin in Krabbe disease and metachromatic leukodystrophy, or X-linked inheritance and slow deterioration in Pelizaeus-Merzbacher disease. Therapy of the leukodystrophies is purely symptomatic in most cases. Trials of bone marrow transplantation are being pursued for metachromatic leukodystrophy and adrenoleukodystrophy.
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PMID:The inherited leukodystrophies: a clinical overview. 769 30

Neurological manifestations are very common and can be the leading and/or presenting feature in organic acid disorders, sometimes in the absence of metabolic derangement. Review of the time course and presentation of neurological disease in organic acid disorders reveals characteristic clinical findings of ataxia, myoclonus, extrapyramidal symptoms, metabolic stroke and megalencephaly. A group of organic acid disorders presents exclusively with neurological symptoms. These include glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I), succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria), mevalonic aciduria, N-acetylaspartic aciduria (Canavan disease) and L-2-hydroxyglutaric aciduria. As a group these "cerebral" organic acid disorders appear to remain often undiagnosed and their true incidence is much less well-known than that of the "classical" organic acid disorders. Unfortunately, stringent guidelines for a clinical preselection of neuropaediatric patients to be investigated for organic acid disorders cannot be provided. Today, screening for neurometabolic disorders should be as comprehensive as possible and include determinations of amino acids, purines and pyrimidines and markers of peroxisomal function in addition to organic acid analysis.
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PMID:Neurological manifestations of organic acid disorders. 795 96