Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases

Consensual diagnostic criteria for facioscapulohumeral dystrophy (FSHD) inc lude onset of the disease in facial or shoulder girdle muscles, facial weak ness in more than 50% of affected family members, autosomal dominant inheri tance in familial cases, and evidence of myopathic disease in at least one affected member without biopsy features specific to alternative diagnoses. Six patients did not meet most of these criteria but were diagnosed as FSHD by DNA testing, which showed small EcoRI fragments on chromosome 4q. Their clinical signs and symptoms and results of auxiliary investigations a re reported. The patients presented with foot extensor, thigh, or calf musc le weakness. None of them had apparent facial weakness, only one complained of weakness in the shoulders, none had a positive family history. Expert p hysical examination, however, showed a typical facial expression, an abnorm al shoulder configuration on lifting the arms, or scapular winging. This ra ised the suspicion of FSHD, whereupon DNA analysis was done. In conclusion, the clinical expression of FSHD is much broader than indicated by the nome nclature. The possibility to perform DNA tests is likely to greatly expand the clinical range of FSHD.