[A family with probable autosomal dominant bulbospinal muscular atrophy with gynecomastia]

We reported a 52-year-old man and his family with bulbospinal muscle atrophy (BSMA) and gynecomastia. The propositus presented with the clinical picture of late onset progressive bulbospinal muscular atrophy including postural tremor, general hyporeflexia, mild maturity onset diabetes, gynecomastia and sexual impotence. One of his brother and his two sons had gynecomastia. His elder son had ocular movement abnormality, associated movement of facial muscle and finger tremor. One of his brothers showed tongue fasciculation without gynecomastia. None of members examined had abnormal expansion of CAG repeats in the androgen receptor gene. We speculate that this family has a new clinical entity characterized by bulbospinal muscular atrophy with an autosomal dominant inheritance.