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Eur J Paediatr Neurol. 2014 Jan;18(1):79-105. doi: 10.1016/j.ejpn.2013.05.015. Epub 2013 Jul 30.

Primary dystonias and genetic disorders with dystonia as clinical feature of the disease.

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Epilepsy and Clinical Neurophysiology Section, Department of Neurology, University Hospital, Case Western University School of Medicine, Cleveland, OH, United States.
Department of Neurology, Yale University School of Medicine, New Haven, CT, United States.
Department of Genetics, Yale University School of Medicine, New Haven, CT, United States; Department of Neurology, Yale University School of Medicine, New Haven, CT, United States. Electronic address:


Dystonia is probably the most common form of movement disorder encountered in the clinical practice. It is characterized by sustained muscle contractions, usually producing twisting and repetitive movements or abnormal postures or positions. Dystonias can be classified in several ways, including primarily by the clinical phenomenology or by the underlining etiology, in particular to understand if the presentation is genetically determined. By advances of genetics, including contemporary genomic technologies, there is a growing understanding of the molecular underpinnings of genetically determined dystonias. The intricacy of information requires a user friendly, novel database that may efficiently serve clinicians to inform of advances of the field and to diagnose and manage these often complex cases. Here we present an up to date, comprehensive review - in tabulated formats - of genetically determined primary dystonias and complex Mendelian disorders with dystonia as central feature. The detailed search up to December 24, 2012, identified 24 hereditary primary dystonias (DYT1 to DYT 25) that are mostly monogenic disorders, and a larger group (>70) of genetic syndromes in which dystonia is one of the characteristic clinical features. We organized the findings not only by individual information (name of the conditions, pattern of inheritance, chromosome and gene abnormality, clinical features, relevant ancillary tests and key references), but also provide symptom-oriented organization of the clinical entities for efficient inquiries.


Dystonia; Gene table; Genetics; Review

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