The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands.


A cross-sectional study was performed in the Netherlands to define the clinical characteristics of the various subtypes within the broad and heterogeneous entity of limb girdle muscular dystrophy (LGMD). An attempt was made to include all known cases of LGMD in the Netherlands. Out of the reported 200 patients, 105 who fulfilled strictly defined criteria were included. Forty-nine patients, mostly suffering from dystrophinopathies and facioscapulohumeral muscular dystrophy, appeared to be misdiagnosed. Thirty-four cases were sporadic, 42 patients came from autosomal recessive and 29 from autosomal dominant families. The estimated prevalence of LGMD in the Netherlands was at least 8.1 x 10(-6). The clinical features of the autosomal recessive and sporadic cases were indistinguishable from those of the autosomal dominant patients, although calf hypertrophy was seen more frequently, and the course of the disease was more severe in autosomal recessive and sporadic cases. The pectoralis, iliopsoas and gluteal muscles, hip adductors and hamstrings were the most affected muscles. Distal muscle involvement occurred late in the course of the disease. Facial weakness was a rare phenomenon. The severity of the clinical picture was correlated with a deteriorating lung function. All autosomal dominantly inherited cases showed a mild course, although in two families life-expectancy was reduced because of concomitant cardiac involvement.

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@article{Kooi1996TheCS, title={The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands.}, author={Anneke Jelly van der Kooi and Peter G. Barth and H. F. M. Busch and Rob J. de Haan and Hendrika B Ginjaar and Anthonie J. van Essen and Loes van Hooff and Chris J H{\"{o}weler and Frans G. I. Jennekens and Peter Joseph Jongen and Hans J. G. H. Oosterhuis and G. W. A. M. Padberg and Frank Spaans and Axel R. Wintzen and J . H . J . Wokke and Egbert J. Bakker and G J B van Ommen and Piet A. Bolhuis and M de Visser}, journal={Brain : a journal of neurology}, year={1996}, volume={119 ( Pt 5)}, pages={1471-80} }