Limb girdle muscular dystrophy: A pathological and immunohistochemical reevaluation

✍ Scribed by A.J. van der Kooi; H.B. Ginjaar; H.F.M. Busch; J.H.J. Wokke; P.G. Barth; M. de Visser

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 271 KB
• Volume: 21
• Category: Article
• ISSN: 0148-639X
• DOI: 10.1002/(sici)1097-4598(199805)21:5<584::aid-mus4>3.0.co;2-4

✦ Synopsis

Ninety-seven muscle biopsies from 81 limb girdle muscular dystrophy (LGMD) 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 abnormalities in AR/sporadic versus AD cases. Eighty percent of the muscle biopsies showed a predominantly dystrophic pattern, 20% showed myopathic changes, and 17% of these also had neurogenic changes. Muscle histology was not significantly different between AR/sporadic and AD LGMD; however, the observed abnormalities were more pronounced in the AR/ sporadic group. Collections of inflammatory cells were observed in 25% and 10% of the AR/sporadic and AD group, respectively. Sarcoglycanopathy was diagnosed in 25% of the AR and sporadic patients of the 37 families tested. We conclude that the histological picture of AR/sporadic and AD

LGMD is essentially the same, and sarcoglycanopathy constitutes an important part of the AR/sporadic patients.