Autosomal dominant familial spinal and bulbar muscular atrophy with gynecomastia

The proband, a 53-year-old man, developed progressive spinal and bulbar mus cular atrophy and gynecomastia at the age of 50. His father had weakness of lower limbs, and his son had a nasal voice, ocular movement abnormalities, and gynecomastia, whereas two of the proband's brothers showed either gyne comastia or tongue fasciculations. None of the patients showed any expansio n of CAG repeat in the androgen receptor gene or any hormonal abnormality. Thus, this family is affected by a form of autosomal dominant spinal and bu lbar muscular atrophy with gynecomastia.