A rapidly progressive autosomal dominant scapulohumeral form of spinal muscular atrophy

Authors

  • P. H. P. Jansen MD,

    1. Institute of Neurology, St. Radbound Hospital, University of Nijmegen, Nijmegen, The Netherlands
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  • Dr E. M. G. Joosten MD, PhD,

    Corresponding author
    1. Institute of Neurology, St. Radbound Hospital, University of Nijmegen, Nijmegen, The Netherlands
    • Institute of Neurology, St. Radbound University Hospital, PO Box 9101, 6500 HB Nijmegen, The Netherlands
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  • H. H. J. Jaspar MD,

    1. Institute of Neurology, St. Radbound Hospital, University of Nijmegen, Nijmegen, The Netherlands
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  • H. M. Vingerhoets MD

    1. Institute of Neurology, St. Radbound Hospital, University of Nijmegen, Nijmegen, The Netherlands
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Abstract

Three patients from a large pedigree are described who had autosomal dominant spinal muscular atrophy that became manifest between the end of the fourth and the sixth decade. The disease progressed rapidly without evidence of corticospinal tract dysfunction, and within 3 years the patients died from respiratory failure.

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