CONGENITAL MUSCULAR-DYSTROPHY - A STUDY ON THE VARIABILITY OF MORPHOLOGICAL-CHANGES AND DYSTROPHIN DISTRIBUTION IN MUSCLE BIOPSIES

Histomorphological and histochemical variability was studied in muscle specimens from 30 patients with congenital muscular dystrophy (CMD). We found involvement of the central nervous system in 8 patients (Fuku yama CMD, F-CMD), involvement of the brain and the eyes in 5 patients (muscle, eye and brain disease, MEB-D) and hypodense white matter on t he CT scans of 2 patients with (sub)normal intelligence (occidental-ty pe cerebromuscular dystrophy, O-CMD). No morphological hallmarks were found to differentiate these subgroups. Only fat cell infiltration was found to be increased with increasing age in 'pure' CMD (pure-CMD). T he morphological data did not appear to be correlated with the clinica l severity or type of dystrophy (pure-CMD, F-CMD, MEB-D and O-CMD). Im munohistochemistry with dystrophin, vimentin and desmin antibodies in 14 patients (6 pure-CMD, 5 F-CMD, 2 MEB-D and 1 O-CMD) showed a normal expression pattern.