Congenital muscular dystrophy

✍ Scribed by Q. H. Leyten; H. J. Laak; F. J. M. Gabreëls; W. O. Renier; K. Renkawek; R. C. A. Sengers

• Book ID: 104744219
• Publisher: Springer-Verlag
• Year: 1993
• Tongue: English
• Weight: 708 KB
• Volume: 86
• Category: Article
• ISSN: 0001-6322
• DOI: 10.1007/bf00369452

✦ Synopsis

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 (Fukuyama 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 the CTscans of 2 patients with (sub)normal intelligence (occidentaltype 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). The morphological data did not appear to be correlated with the clinical severity or type of dystrophy (pure-CMD, F-CMD, MEB-D and O-CMD). Immunohistochemistry 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.