FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy

Abstract

To evaluate the incidence of the facioscapulohumeral dystrophy (FSHD) 4q35 deletion in patients with facial-sparing scapular myopathy. Scapular winging is typical of FSHD but may also be prominent in other muscle disorders including scapuloperoneal syndromes. With DNA testing, it is possible to determine if patients with facial-sparing scapular myopathy have FSHD. Fourteen of 17 unrelated patients with facial-sparing scapular myopathy, seen over a 7-year period at a regional neuromuscular center, agreed to have DNA testing for FSHD. The clinical and laboratory features of these patients were also noted. Of the 14 patients, 10 (71%) had restriction fragments consistent with the 4q35 deletion. The mean size of the smaller fragment following EcoRI digestion was 29.5 kb (range 20 to 39). The mean age at onset was 19.9 years; at presentation, 44.7 years. Except for the absence of facial weakness, most patients had clinical and laboratory features otherwise consistent with FSHD. Five patients (50%) had a positive family history of similar weakness. Following removal of outliers, the Pearson correlation coefficient (r) value between EcoRI fragment size and age at onset was 0.64, and between fragment size and limb muscle strength, 0.64. The FSHD 4q35 deletion was found in 71% of the facial-sparing scapular myopathy patients. They otherwise resemble typical FSHD patients in age at onset, physical characteristics, and association between fragment size and disease severity.