C85233Level 5
Spinal and Bulbar Muscular Atrophy, X-linked 1
**Semantic type:** Disease or Syndrome
**Definition:** A rare, slowly progressive degenerative disorder affecting males. It is caused by mutations in the androgen receptor (AR) gene. It is characterized by bulbar and limb muscle weakness and atrophy, and gynecomastia.
**Synonyms:** - Kennedy Disease - SBMA - SMAX1 - Spinal and Bulbar Muscular Atrophy
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