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

Dystonias are a heterogeneous group of disorders which are known to have a strong inherited basis. This review details recent advances in our understanding of the genetic basis of dystonias, including the primary dystonias, the 'dystonia-plus' syndromes and heredodegenerative disorders. The review focuses particularly on clinical and genetic features and molecular mechanisms. Conditions discussed in detail include idiopathic torsion dystonia (DYT1), focal dystonias (DYT7) and mixed dystonias (DYT6 and DYT13), dopa-responsive dystonia, myoclonus dystonia, rapid-onset dystonia parkinsonism, Fahr disease, Aicardi-Goutieres syndrome, Hallervorden-Spatz syndrome, X-linked dystonia parkinsonism, deafness-dystonia syndrome, mitochondrial dystonias, neuroacanthocytosis and the paroxysmal dystonias/dyskinesias.
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PMID:The genetics of primary dystonias and related disorders. 1191 6

Childhood dystonias are a heterogeneous group of disorders with strong inherited basis. This review describes the clinical characteristics, classification, genetic basis, pathophysiology, biochemistry, pathology, and treatment of dystonias, including the primary dystonias, the dystonia-plus syndromes, secondary dystonias, and heredodegenerative disorders. Conditions discussed in detail include idiopathic torsion dystonia, dopa-responsive dystonia, Wilson's disease, myoclonus dystonia, rapid-onset dystonia parkinsonism, neurodegeneration with brain iron accumulation (Hallervorden-Spatz syndrome), mitochondrial dystonias, Niemann-Pick type C, and neuroacanthocytosis.
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PMID:Childhood dystonia. 1278 48