TY - JOUR
T1 - Clinical Neurogenetics
T2 - Dystonia From Phenotype to Genotype
AU - Waugh, Jeffrey L.
AU - Sharma, Nutan
PY - 2013/11
Y1 - 2013/11
N2 - Dystonia can arise from genetic syndromes or can be secondary to nongenetic injuries; both causes can produce pure dystonia, dystonia plus other movement disorders, or paroxysmal mixed movement disorders. Genetic causes of dystonia are inherited through dominant, recessive, X-linked, and mitochondrial mechanisms, may show anticipation, are variably penetrant, and may be limited to small ethnic populations or single families. In this article, the genetic causes of dystonia, an algorithm for their diagnosis and management, information on common medications and surgical treatments, and resources for affected families and those interested in advancing research are presented.
AB - Dystonia can arise from genetic syndromes or can be secondary to nongenetic injuries; both causes can produce pure dystonia, dystonia plus other movement disorders, or paroxysmal mixed movement disorders. Genetic causes of dystonia are inherited through dominant, recessive, X-linked, and mitochondrial mechanisms, may show anticipation, are variably penetrant, and may be limited to small ethnic populations or single families. In this article, the genetic causes of dystonia, an algorithm for their diagnosis and management, information on common medications and surgical treatments, and resources for affected families and those interested in advancing research are presented.
KW - Dystonia
KW - Myoclonus
KW - Parkinsonism
KW - Paroxysmal dyskinesia
UR - http://www.scopus.com/inward/record.url?scp=84886423358&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84886423358&partnerID=8YFLogxK
U2 - 10.1016/j.ncl.2013.04.002
DO - 10.1016/j.ncl.2013.04.002
M3 - Review article
C2 - 24176419
AN - SCOPUS:84886423358
SN - 0733-8619
VL - 31
SP - 969
EP - 986
JO - Neurologic Clinics
JF - Neurologic Clinics
IS - 4
ER -