spinal and bulbar muscular atrophy syndrome

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This is a rare, X-linked, recessive, adult-onset form of motor neurone disease. It is associated with signs of androgen insensitivity.

The disease presents with progressive muscular weakness and atrophy. Affected males often show gynaecomastia and infertility (1).

Reference:

  • La Spada, A.R. et al. (1991). Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 253, 77-9.

Last reviewed 01/2018

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