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Brain, Vol. 119, No. 5, 1471-1480, 1996
© 1996 Guarantors of Brain

research-article

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

A. J. van der Kooi1,, P. G. Barth1, H. F. M. Busch9, R. de Haan2, H. B. Ginjaar3, A. J. van Essen5, L. J. M. A. van Hooff10, C. J. Höweler7, F. G. I. Jennekens11, P. Jongen12, H. J. G. H. Oosterhuis6, G. W. A. M. Padberg12, F. Spaans8, A. R. Wintzen4, J. H. J. Wokke11, E. Bakker3, G. J. B. van Ommen3, P. A. Bolhuis1 and M. de Visser1

1Departments of Neurology, Academic Medical Centre Amsterdam 2Clinical Epidemiology and Biostatistics, Academic Medical Centre Amsterdam 3Department of Human Genetics, University of Leiden 4Department of Neurology, Academic Hospital Leiden 5Department of Medical Genetics, University of Groningen 6Department of Neurology, Academic Hospital Groningen 7Departments of Neurology, Academic Hospital Maastricht 8Clinical Neurophysiology, Academic Hospital Maastricht 9Department of Neurology, Academic Hospital Dijkzigt Rotterdam 10Department of Neurology, St Franciscus Hospital Roosendaal 11Department of Neurology, Academic Hospital Utrecht The Netherlands 12Department of Neurology, Academic Hospital Nijmegen The Netherlands

Correspondence to: Dr A. J. van der Kooi, Department of Neurology, Academic Medical Centre, University of Amsterdam, PO Box 22700, 1100 DE Amsterdam, 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 8.1x10–6. 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.

limb girdle muscular dystrophy; prevalence; {alpha}-sarcoglycan; linkage analysis

Received January 5, 1996. Revised April 12, 1996. Accepted May 7, 1996.


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