Complex dystonias: an update on diagnosis and care
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NEUROLOGY AND PRECLINICAL NEUROLOGICAL STUDIES - REVIEW ARTICLE
Complex dystonias: an update on diagnosis and care Rebecca Herzog1 · Anne Weissbach1 · Tobias Bäumer1 · Alexander Münchau1 Received: 31 August 2020 / Accepted: 30 October 2020 © The Author(s) 2020
Abstract Complex dystonias are defined as dystonias that are accompanied by neurologic or systemic manifestations beyond movement disorders. Many syndromes or diseases can present with complex dystonia, either as the cardinal sign or as part of a multisystemic manifestation. Complex dystonia often gradually develops in the disease course, but can also be present from the outset. If available, the diagnostic workup, disease-specific treatment, and management of patients with complex dystonias require a multi-disciplinary approach. This article summarizes current knowledge on complex dystonias with a particular view of recent developments with respect to advances in diagnosis and management, including causative treatments. Keywords Complex dystonia · NBIA · Infantile cerebral palsy · Diagnostic · Management · Red flags Abbreviations DBS Deep brain stimulation CP Infantile cerebral palsy CPMS Clinical Patient Management System CSF Cerebrospinal fluid ERN European Reference Networks NBIA Neurodegeneration with brain iron accumulation PED Paroxysmal exertional dystonias PKAN Pantothenate kinase-associated neurodegeneration
Introduction Dystonia is thus currently defined as “a movement disorder characterized by sustained or intermittent muscle contractions causing abnormal, often repetitive movements or postures, or both.” According to the new classification, the term “complex dystonia” is used for dystonias accompanied by neurologic or systemic manifestations beyond movement disorders. It encompasses a broad spectrum of syndromes and diseases that typically gradually evolve over time in the clinical course (Klein and Munchau 2013).
* Alexander Münchau [email protected]‑luebeck.de 1
Institute of Systems Motor Science, University of Lübeck, Center for Brain, Behavior and Metabolism, Ratzeburger Allee 160, 23538 Lübeck, Germany
There are some characteristic dystonia features indicative of complex dystonia including sustained dystonia at rest rather than action-associated or action-specific occurrence typical for isolated or combined dystonia, and prominent tongue or perioral involvement leading to what has been labelled “risus sardonicus” (Klein et al. 1993). Typical additional signs accompanying complex dystonias are developmental delay or cognitive impairment, spasticity, ataxia, bulbar involvement including anarthria, visual impairment, oculomotor disturbances, hearing loss, or seizures (Klein and Munchau 2013). Rational diagnostic workup and early diagnosis in complex dystonias associated with marked disability are very important for two main reasons. First, some forms of complex dystonia are treatable, so that adequate and early therapy is mandatory. Second, as is the case also for other patients with hitherto unexplained diseases,
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