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Kennedy’s disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease

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Abstract

Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is a rare, X-linked hereditary lower motor neuron disease, characterized by progressive muscular weakness. An expanded trinucleotide repeat (CAG > 37) in the androgen receptor gene (AR), encoding glutamine, is the mutation responsible for Kennedy’s disease. Toxicity of this mutant protein affects both motor neurons and muscles. In this review, we provide a comprehensive, clinically oriented overview of the current literature regarding Kennedy’s disease, highlighting gaps in our knowledge that remain to be addressed in further research. Kennedy’s disease mimics are also discussed, as are ongoing and recently completed therapeutic endeavours.

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  1. Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian University of Athens, 72-74 Vasilissis Sofias, 11528, Athens, Greece

    Marianthi Breza & Georgios Koutsis

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  1. Marianthi Breza
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Correspondence to Marianthi Breza.

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None of the authors have any financial disclosure to make or have any conflict of interest relevant to the manuscript. G. Koutsis has received research grants from Genesis Pharma and Teva, consultation fees, advisory boards and honoraria from Genzyme, Genesis Pharma, Teva, and Novartis.

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Video legend: Fasciculations of tongue in a 61-year-old SBMA patient with wasting of the tongue, scalloping of the borders, and midline furrowing. (MOV 15253 KB)

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Breza, M., Koutsis, G. Kennedy’s disease (spinal and bulbar muscular atrophy): a clinically oriented review of a rare disease. J Neurol 266, 565–573 (2019). https://doi.org/10.1007/s00415-018-8968-7

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