The Dystonias

Christopher D. Stephen, MB ChB, FRCP, SM Movement Disorders p. 1435-1475 October 2022, Vol.28, No.5 doi: 10.1212/CON.0000000000001159
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PURPOSE OF REVIEW This article discusses the most recent findings regarding the diagnosis, classification, and management of genetic and idiopathic dystonia.

RECENT FINDINGS A new approach to classifying dystonia has been created with the aim to increase the recognition and diagnosis of dystonia. Molecular biology and genetic studies have identified several genes and biological pathways involved in dystonia.

SUMMARY Dystonia is a common movement disorder involving abnormal, often twisting, postures and is a challenging condition to diagnose. The pathophysiology of dystonia involves abnormalities in brain motor networks in the context of genetic factors. Dystonia has genetic, idiopathic, and acquired forms, with a wide phenotypic spectrum, and is a common feature in complex neurologic disorders. Dystonia can be isolated or combined with another movement disorder and may be focal, segmental, multifocal, or generalized in distribution, with some forms only occurring during the performance of specific tasks (task-specific dystonia). Dystonia is classified by clinical characteristics and presumed etiology. The management of dystonia involves accurate diagnosis, followed by treatment with botulinum toxin injections, oral medications, and surgical therapies (mainly deep brain stimulation), as well as pathogenesis-directed treatments, including the prospect of disease-modifying or gene therapies.

Address correspondence to Dr Christopher D. Stephen, Dystonia Center, Department of Neurology Massachusetts General Hospital, 55 Fruit St, Boston, MA 02114, [email protected].

RELATIONSHIP DISCLOSURE: Dr Stephen has received personal compensation in the range of $500 to $4999 for serving on a scientific advisory or data safety monitoring board for SwanBio Therapeutics, Inc, has received research support from the National Institutes of Health/National Institute of Neurological Disorders and Stroke (1K23NS118045-01A1), and has received honoraria in the range of $500 to $4999 from the International Parkinson and Movement Disorder Society. The institution of Dr Stephen has received research support from Sanofi.

UNLABELED USE OF PRODUCTS/INVESTIGATIONAL USE DISCLOSURE: Dr Stephen discusses the unlabeled/investigational use of medications and therapies, none of which are approved by the US Food and Drug Administration (FDA) except for botulinum toxin injections; medications and therapies for the treatment of paroxysmal dystonia, none of which are approved by the FDA for this indication; medications and therapies for the treatment of status dystonicus/dystonic storm, none of which are approved by the FDA for this indication; dopamine agonists for the treatment of dystonia parkinsonism; ethylenediaminetetraacetic acid chelation therapy for the treatment of dystonia/parkinsonism with manganese accumulation; dopamine agonists, monoamine oxidase inhibitors, and pyridoxine for the treatment of aromatic l-amino acid decarboxylase deficiency; levodopa and 5-hydroxytryptophan for the treatment of complex dopa-responsive dystonia; L-carnitine for the treatment of glutaric aciduria type 1, methylmalonic aciduria, and propionic acidemia; vitamin B6 for the treatment of homocystinuria; biotin and thiamine for the treatment of biotin-thiamine–responsive basal ganglia disease and biotinidase deficiency; and coenzyme Q10 for the treatment of coenzyme Q10 deficiency.

© 2022 American Academy of Neurology.