EARLY-ONSET FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY - 2 CASE-REPORTS

This report concerns two patients with facioscapulohumeral muscular dy strophy (FSHD) whose facial weakness began in infancy. In both patient s, biopsied muscle histology showed mild myogenic changes accompanied by some regenerating and some small angular fibers, while endomysial i nflammatory cellular infiltration was observed in Patient 1. The findi ng that our very young patients had muscle histopathological findings compatible with classical FSHD supports the previously expressed view that muscle histopathology is not related to either age or duration of the disease. Although Patient 2 was a sporadic case, both patients ha d the abnormal EcoRI DNA fragment detected by Southern blot analysis w ith probes p13E-11 and pFR-1, a finding compatible with FSHD. This ind icates that gene analysis of sporadic cases must be as significant as that of familial cases. This report on patients with very early-onset and with common muscle histopathological and molecular genetic finding s should contribute to widening the clinical spectrum of FSHD. (C) 199 7 Elsevier Science B.V.