" /> Spinal and Bulbar Muscular Atrophy, X-linked 1 - CISMeF





Preferred Label : Spinal and Bulbar Muscular Atrophy, X-linked 1;

NCIt synonyms : Kennedy Disease; SBMA; SMAX1; Spinal and Bulbar Muscular Atrophy;

NCIt 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.;

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31/07/2025


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