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The entity of young onset primary cervical dystonia

Authors

  • Vasiliki Koukouni MD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom
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  • Davide Martino MD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom
    2. Department of Neurological and Psychiatric Sciences, University of Bari, Bari, Italy
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  • Gennarina Arabia MD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom
    2. Institute of Neurological Sciences, National Research Council, Cosenza, Italy
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  • Niall P. Quinn MD,

    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom
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  • Kailash P. Bhatia MD

    Corresponding author
    1. Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom
    • Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, 7 Queen Square, London WC1N 3BG, United Kingdom
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Abstract

Primary cervical dystonia is typically an adult onset condition with symptom onset usually in the fifth and sixth decade. Young onset (<28 years) is uncommon. We report 76 patients with cervical dystonia as a presenting or predominant feature, with disease onset before the age of 28. Male to female ratio was 1.24:1 and the mean onset age was 21 (3–28) years. A family history of tremor and/or dystonia was noted in 26.3%. Depression and anxiety attacks were present in 23.7%.Prior injury or surgery involving the neck was noted in 17.1%. 23 (30.3%) experienced spontaneous partial or complete remissions within the first 5 years of onset, but all relapsed. Cervical dystonia was predominantly rotational torticollis. 30% developed extra-nuchal dystonia and tremor affecting contiguous parts but in only one there was spread to affect the legs. All 15 patients tested for the DYT1 gene were negative. 74% responded favorably to botulinum toxin injections, whereas none of the 13 patients treated with L-Dopa preparations had a beneficial response. The distinctive features of this entity are discussed. © 2007 Movement Disorder Society

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