Workshop reportBethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC International Workshop, 23–24 November 2001, Naarden, The Netherlands
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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Cited by (75)
Monoamine oxidase inhibition prevents mitochondrial dysfunction and apoptosis in myoblasts from patients with collagen VI myopathies
2014, Free Radical Biology and MedicineCitation Excerpt :These findings prove a direct link between MAO-dependent oxidative stress and mitochondrial dysfunction caused by PTP opening. UCMD and BM were diagnosed according to the criteria of the European Neuromuscular Center [24]. All probands were examined and underwent a muscle biopsy.
Muscular Dystrophy: Emery-Dreifuss, Facioscapulohumeral, Scapuloperoneal, and Bethlem Myopathy
2014, Encyclopedia of the Neurological SciencesRelative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001-2008
2012, Neuromuscular DisordersCitation Excerpt :The biochemical and molecular diagnosis of collagen VI related disorders is more complicated due to the subtle reduction of protein expression in many UCMD patients and the lack of clear pathological markers on muscle biopsy for most BM cases. However improved detection techniques such as double immunofluorescence of collagen VI and proteins such as perlecan and collagen IV on muscle biopsy, or immunohistochemical studies on cultured fibroblasts followed by the genetic screening of the three collagen 6A chains, have led to the appreciation that collagen VI defects are one of the most common CMD subtypes [8–10]. Muscle imaging also plays an important role in the diagnosis of the collagen VI related conditions [11].
Clinical/scientific notes
2012, NeurologyCitation Excerpt :This indicates an intrafamilial variability and a continuous clinical spectrum within collagen VI–related myopathies. Similar intrafamilial phenotypic variability has been reported previously in several families.2 In patients with Bethlem myopathy, muscle imaging typically shows peripheral involvement of thigh muscles, especially of the vastus lateralis, with relative sparing of its central part.3
Autosomal Dominant Limb-Girdle Muscular Dystrophies
2023, Current Clinical NeurologyMuscle Biopsy: A Practical Approach
2020, Muscle Biopsy: A Practical Approach