The Dystonias

H. A. Jinnah, MD, PhD p. 976-1000 August 2019, Vol.25, No.4 doi: 10.1212/CON.0000000000000747
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PURPOSE OF REVIEW: This article provides a summary of the state of the art in the diagnosis, classification, etiologies, and treatment of dystonia.

RECENT FINDINGS: Although many different clinical manifestations of dystonia have been recognized for decades, it is only in the past 5 years that a broadly accepted approach has emerged for classifying them into specific subgroups. The new classification system aids clinical recognition and diagnosis by focusing on key clinical features that help distinguish the many subtypes. In the past few years, major advances have been made in the discovery of new genes as well as advances in our understanding of the biological processes involved. These advances have led to major changes in strategies for diagnosis of the inherited dystonias. An emerging trend is to move away from heavy reliance on the phenotype to target diagnostic testing toward a broader approach that involves large gene panels or whole exome sequencing.

SUMMARY: The dystonias are a large family of phenotypically and etiologically diverse disorders. The diagnosis of these disorders depends on clinical recognition of characteristic clinical features. Symptomatic treatments are useful for all forms of dystonia and include oral medications, botulinum toxins, and surgical procedures. Determination of etiology is becoming increasingly important because the number of disorders is growing and more specific and sometimes disease-modifying therapies now exist.

Address correspondence to Dr H. A. Jinnah, Emory University, Ste 6300 Woodruff Memorial Building, 101 Woodruff Cir, Atlanta, GA 30322,

RELATIONSHIP DISCLOSURE: Dr Jinnah has received personal compensation for serving on the advisory boards of and as a consultant for Abide Therapeutics, Inc; Allergan, Inc; CoA Therapeutics; the International Neurotoxin Society; the International Parkinson and Movement Disorders Society; Medtronic; the Parkinson's Foundation; Psyadon Pharmaceuticals Inc; Retrophin, Inc; and Saol Therapeutics. Dr Jinnah has received grant support from the Benign Essential Blepharospasm Research Foundation, Cavion, Cure Dystonia Now, the Dystonia Study Group, Ipsen Group, National Institutes of Health (NIH), and Retrophin, Inc. He also is principle investigator for the Dystonia Coalition, which receives the majority of its support through NIH grant TR001456 from the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences and previously received support through grant NS065701 from the National Institutes of Neurological Disorders and Stroke. The Dystonia Coalition has received additional material or administrative support from industry sponsors (Allergan, Inc and Merz Pharmaceuticals) as well as private foundations (the American Dystonia Society, Beat Dystonia, the Benign Essential Blepharospasm Research Foundation, Cure Dystonia Now, Dystonia Europe, Dystonia Inc, Dystonia Ireland, the Dystonia Medical Research Foundation, the Foundation for Dystonia Research, the National Spasmodic Dysphonia Association, and the National Spasmodic Torticollis Association).

UNLABELED USE OF PRODUCTS/INVESTIGATIONAL USE DISCLOSURE: Dr Jinnah discusses the unlabeled/investigational use of alprazolam, amphetamines, baclofen, benzodiazepines, benztropine, biperiden, botulinum neurotoxins, carbamazepine, carbidopa/levodopa, carisoprodol, chlordiazepoxide, chlorzoxazone, clonazepam, cyclobenzaprine, cyproheptadine, diazepam, ethopropazine, gabapentin, lithium, metaxalone, methocarbamol, nabilone orphenadrine, procyclidine, riluzole, tizanidine, trihexyphenidyl, and zolpidem for the treatment of dystonia. Dr Jinnah discusses the unlabeled/investigational use of thiamine for the treatment of biotin-thiamineā€“responsive basal ganglia disorder; folinic acid for the treatment of cerebral folate deficiency; chenodeoxycholic acid for the treatment of cerebrotendinous xanthomatosis; 5-hydroxytryptophan and tetrahydrobiopterin for the treatment of dopa-responsive dystonia; cyclic pyranopterin monophosphate for the treatment of molybdenum cofactor deficiency; N-butyl-deoxynojirimycin for the treatment of Niemann-Pick disease type C; tetrabenazine for the treatment of oromandibular dystonia; and deutetrabenazine, tetrabenazine, and valbenazine and for the treatment of tardive dystonia.

Ā© 2019 American Academy of Neurology.