Elsevier

Neuromuscular Disorders

Volume 12, Issue 10, December 2002, Pages 984-993
Neuromuscular Disorders

Workshop report
Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands

https://doi.org/10.1016/S0960-8966(02)00139-6Get rights and content

Introduction

Bethlem myopathy (OMIM # 158810) is an early-onset benign myopathy characterized by proximal muscle weakness and multiple flexion contractures [1], [2], [3]. It is caused by dominant mutations in COL6A1 (OMIM # 120220), COL6A2 (OMIM # 120240) [4], and COL6A3 (OMIM # 120250) [5] genes.

Seventeen active participants attended the International Workshop of the Consortium on Bethlem myopathy from six countries, including France, Italy, Japan, The Netherlands, Turkey, and the United Kingdom.

Since Camacho Vanegas and co-workers [8] demonstrated the association of a second disease with COL6 genes, this second meeting on Bethlem myopathy included sections on Ullrich scleroatonic muscular dystrophy (UCMD) [6], [7] – a subgroup associated with collagen type VI and other clinical entities overlapping with the above disorders in which the molecular bases are still unknown [9].

Section snippets

Bethlem myopathy

Cardiac and respiratory muscle involvements are well-known complications in muscular dystrophies. Until now, in Bethlem myopathy, cardiac abnormalities have not been described, and pulmonary involvement is supposed to be rare.

Anneke van der Kooi reported a study by the Dutch group and their collaborators on patients presenting with a phenotype compatible with Bethlem myopathy.

Both frequency and nature of cardiac involvement were investigated in 121 Bethlem myopathy patients (59 males, 62

Ullrich's disease

Enrico Bertini presented the clinical features of four patients from three families, affected by Ullrich disease, who had molecular genetic confirmation, recently published [8]. In Family A, the pedigree suggested autosomal recessive inheritance; in Family B, with two affected male children, the parents were not related and in Family C, the affected girl was a sporadic case. Patients had normal or delayed motor milestones and they were all able to walk autonomously. The male patient of Family A

Syndrome of myosclerosis

Luciano Merlini reviewed the syndrome of Myosclerosis that was first described by Bradley [13] in two siblings of a non-consanguineous family. Difficulty in walking was noted in early childhood together with toes walking and progressive calf contractures. The clinical picture in the early thirties was characterized by slender muscles with firm ‘woody’ consistence, restriction of movement of many joints due to contractures of the muscles including elbows, hips, knees, and ankles. CK was normal.

Acknowledgements

This workshop was made possible thanks to European Community grant (QLG1-CT-1999-00870) and the logistic support of the European Neuromuscular Centre (ENMC).

This work was also supported by the Association Française Contre les Maladies Musculaire (AFM) and by Fondazione Carisbo Diagnosi Riceru e Trattamento nelle Distrofie Muscolari.

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