TY - CHAP
T1 - Treatment of generalized dystonia
AU - Bressman, Susan B.
N1 - Publisher Copyright:
© 2019, Springer Nature Switzerland AG.
PY - 2019
Y1 - 2019
N2 - Generalized dystonia is a clinical subtype of dystonia characterized by widespread body involvement that includes the trunk and at least two other regions. Generalized dystonia often begins in childhood or adolescence and may be idiopathic or more frequently caused by an array of etiologies, including a growing number of genetic causes. For generalized dystonia that occurs in isolation, there is a limited number of confirmed genes (TOR1A and THAP). On the other hand, there are many genetic causes for combined or complex dystonia, where dystonia occurs along with other neurological or systemic abnormalities. For these dystonias, clinical findings and also imaging, CSF, blood and urine markers can help narrow the differential. Increasingly, however, testing using diagnostic exome sequencing is employed to make a definitive genetic diagnosis. Treatment of generalized dystonia may include therapies specifically targeted to the etiology (e.g., levodopa for genetic defects in dopamine synthesis). But for most patients with generalized dystonia, only symptomatic treatment is available and may include botulinum toxin injections, oral medications, and deep brain stimulation. The latter can provide dramatic benefit, especially for those with TOR1A and idiopathic isolated dystonia.
AB - Generalized dystonia is a clinical subtype of dystonia characterized by widespread body involvement that includes the trunk and at least two other regions. Generalized dystonia often begins in childhood or adolescence and may be idiopathic or more frequently caused by an array of etiologies, including a growing number of genetic causes. For generalized dystonia that occurs in isolation, there is a limited number of confirmed genes (TOR1A and THAP). On the other hand, there are many genetic causes for combined or complex dystonia, where dystonia occurs along with other neurological or systemic abnormalities. For these dystonias, clinical findings and also imaging, CSF, blood and urine markers can help narrow the differential. Increasingly, however, testing using diagnostic exome sequencing is employed to make a definitive genetic diagnosis. Treatment of generalized dystonia may include therapies specifically targeted to the etiology (e.g., levodopa for genetic defects in dopamine synthesis). But for most patients with generalized dystonia, only symptomatic treatment is available and may include botulinum toxin injections, oral medications, and deep brain stimulation. The latter can provide dramatic benefit, especially for those with TOR1A and idiopathic isolated dystonia.
KW - Botulinum toxin
KW - Deep brain stimulation
KW - Dopa-responsive dystonia
KW - Dystonia
KW - Generalized dystonia
KW - Genetics of dystonia
KW - THAP1
KW - TOR1A
KW - Trihexyphenidyl
KW - Whole exome sequencing
UR - http://www.scopus.com/inward/record.url?scp=85066896963&partnerID=8YFLogxK
U2 - 10.1007/978-3-319-97897-0_51
DO - 10.1007/978-3-319-97897-0_51
M3 - Chapter
AN - SCOPUS:85066896963
T3 - Current Clinical Neurology
SP - 225
EP - 228
BT - Current Clinical Neurology
PB - Humana Press Inc.
ER -