The autosomal dominant dystonias.
Dystonia is a term used to describe a specific set of abnormal movements that can occur as a symptom of a variety of neurologic disorders, but also as a disease entity in its own right. This review focuses on the primary dystonias and delineates the genetic contribution to these disorders. Included is a description of the well recognized forms of primary dystonias which manifest autosomal dominant inheritance, especially the "classic" type of early onset, generalized torsion dystonia, but also other clinically distinct forms such as myoclonic dystonia, paroxysmal dystonia, and DOPA-responsive dystonia. Also, a summary of the molecular genetic studies pertinent to these disorders and a discussion of the implications of recent genetic research for delineating the wide spectrum of this phenotypically and genetically heterogeneous group of diseases are forthcoming.
Gasser
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Department of Neurology, Massachusetts General Hospital, Charlestown 02129.
Fahn
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Breakefield
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D000483:Alleles; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D004421:Dystonia / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D004422:Dystonia Musculorum Deformans / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009132:Muscles / Q000503:physiopathology; D010375:Pedigree