GTR Home > Conditions/Phenotypes > Bulbo-spinal atrophy X-linked

Summary

Excerpted from the GeneReview: Spinal and Bulbar Muscular Atrophy
Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in muscle weakness, muscle atrophy, and fasciculations. SBMA occurs only in males. Affected individuals often show gynecomastia, testicular atrophy, and reduced fertility as a result of mild androgen insensitivity.

Genes See tests for all associated and related genes

  • Also known as: AIS, AR8, DHTR, HUMARA, HYSP1, KD, NR3C4, SBMA, SMAX1, TFM, AR
    Summary: androgen receptor

Clinical features

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