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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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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