Facioscapulohumeral muscular dystrophy: the choice of a biopsy site

The utilization of so-called standard muscles for biopsy in patients with the clinical features of facioscapulohumeral muscular dystrophy (FSH) often results in nondiagnostic pathologic findings. Five patients are presented who had biopsies of the supraspinatus muscle in addition to one of the standard muscles. The supraspinatus muscle was diagnostic in all five cases. The findings suggest that the supraspinatus muscle should be considered as the biopsy site of first choice in those patients in whom the clinical picture suggests facioscapulohumeral-type muscular dystrophy.