Article

A broad range of rare inherited metabolic disorders can present with dystonia.
For clinicians, it is important to recognize dystonic features, but it can be
complicated by the mixed and complex clinical picture seen in many neurometabolic
patients. Careful phenotyping is the first step towards the diagnosis of the
underlying condition and subsequent targeted treatment, further supported by
imaging, biochemical diagnostics and the availability of modern diagnostic
techniques such as next generation sequencing.
As several neurometabolic
disorders are treatable causes of dystonia, these should have priority in the
diagnostic process. In the symptomatic treatment of dystonia, several therapeutic
options are available. Awareness for the occurrence and optimal treatment of
dystonia and other movement disorders in neurometabolic conditions is important
because these symptoms can have a substantial impact on the quality of life and
daily functioning; this effect is not only exerted by the dystonia itself, but
also by the frequently associated non-motor features. In this paper, the
highlights and key concepts of neurometabolic forms of dystonia are discussed,
with a focus on phenomenology, the diagnostic approach, the most important
neurometabolic aetiologies, co-occurring non-motor features and therapeutic options.
CI - Copyright (c) 2016 Elsevier Masson SAS. All rights reserved.

Langue : ANGLAIS