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Spinal Bulbar Muscular Atrophy: Kennedy Disease

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Genetic Counseling for Adult Neurogenetic Disease

Abstract

Spinal and bulbar muscular atrophy (SBMA), Kennedy disease, is a relatively rare form of adult motor neuron disease causing progressive proximal spinal and bulbar muscular weakness. SBMA is an X-linked disorder due to a CAG trinucleotide repeat expansion in the androgen receptor gene. As patients are frequently misdiagnosed, genetic testing is diagnostic for SBMA. Depression is common as patients adjust to their diagnosis and prognosis as well as to the guilt of passing on the gene. Genetic counseling should address the psychological impact of the diagnosis and the implications for other family members and their reproductive options.

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Author information

Authors and Affiliations

  1. Center for Patient Care and Outcomes Research (PCOR) & Department of Neurology, Medical College of Wisconsin, 8701 Watertown Plank Rd., Rm H3155, Milwaukee, WI, 53226, USA

    Alison La Pean Kirschner

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  1. Alison La Pean Kirschner
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Correspondence to Alison La Pean Kirschner .

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Editors and Affiliations

  1. Taub Institute, Columbia University Medical Center, New York, New York, USA

    Jill S. Goldman

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Kirschner, A.L.P. (2015). Spinal Bulbar Muscular Atrophy: Kennedy Disease. In: Goldman, J. (eds) Genetic Counseling for Adult Neurogenetic Disease. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-7482-2_14

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