THE CLINICAL SPECTRUM OF LIMB-GIRDLE MUSCULAR-DYSTROPHY - A SURVEY INTHE NETHERLANDS

A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad ana l heterogeneous entity of limb girdle muscular dystrophy (LGMD). An at tempt was made to include all known cases of LGMD in the Netherlands. Out of the reported 200 patients, 105 who fulfilled strictly defined c riteria were included. Forty-nine patients, mostly suffering from dyst rophinopathies and facioscapulohumeral muscular dystrophy, appeared to be misdiagnosed. Thirty-four cases were sporadic, 42 patients came fr om autosomal recessive and 29 from autosomal dominant families. The es timated prevalence of LGMD in the Netherlands was at least 8.1x10(-6). The clinical features of the autosomal recessive and sporadic cases w ere indistinguishable from those of the autosomal dominant patients, a lthough calf hypertrophy was seen more frequently, and the course of t he disease was more severe in autosomal recessive and sporadic Cases. The pectoralis, iliopsoas and gluteal muscles, hip adductors and hamst rings were the most affected muscles. Distal muscle involvement occurr ed late in the course of the disease. Facial weakness was a rare pheno menon The severity of the clinical picture was correlated with a deter iorating lung function. All autosomal dominantly inherited cases showe d a mild course, although in two families life-expectancy was reduced because of concomitant cardiac involvement.