LIMB-GIRDLE MUSCULAR-DYSTROPHY - A PATHOLOGICAL AND IMMUNOHISTOCHEMICAL REEVALUATION

Ninety-seven muscle biopsies from 81 limb girdle muscular dystrophy (L GMD) patients [32 autosomal recessive (AR), 15 autosomal dominant (AD) , 34 sporadic] were morphologically reevaluated. Sarcoglycan analysis was done in 37 available muscle biopsies of AR and sporadic patients, Chi-square tests were used to analyze the relation between abnormaliti es in AR/sporadic versus AD cases. Eighty percent of the muscle biopsi es showed a predominantly dystrophic pattern, 20% showed myopathic cha nges, and 17% of these also had neurogenic changes. Muscle histology w as not significantly different between AR/sporadic and AD LGMD; howeve r, the observed abnormalities were more pronounced in the AW sporadic group. Collections of inflammatory cells were observed in 25% and 10% of the AR/sporadic and AD group, respectively. Sarcoglycanopathy was d iagnosed in 25% of the AR and sporadic patients of the 37 families tes ted. We conclude that the histological picture of AR/sporadic and AD L GMD is essentially the same, and sarcoglycanopathy constitutes an impo rtant part of the AR/sporadic patients. (C) 1998 John Wiley & Sons, In c.