Myopathy type Bethlemn in a 4-year-old girl
Keywords:
Bethlem myopathyrrespondence, COL6, myopathic syndromeAbstract
Bethlem myopathy and Ullrich congenital muscular dystrophy form a spectrum of collagenopathies caused by genetic mutations encoding for any of the three subunits of collagen VI.
Bethlem phenotype is relatively benign and is characterized by proximal dominant myopathy, keloids, contractures, distal hyperextensibility, and follicular hyperkeratosis. We present 4 year old girl with genetically verified with BM, due to mutation of COL6A3 gen with autosomal dominant inheritance. The clinical picture is represented by myoapetic syndrome with limb-girdle muscle weakness, muscle hypotonia, ankle contractures. Eectromyography revealed myopathic features and creatinine kinase was mildly elevated.
References
[Tchamova, T., Taneva, A., Atemin, S., Todorov, T., Gospodinova, M., Todorova, A., Tournev, I. Kolagen VI-svarzani myopathii. Parvoto genetichno dokazano semeistvo v Bulgaria s vrodena myopathiya na Bethlem. Pediatriia, 2019, 59, 1, 42-44.]
Bethlem, J., Wijngaarden, G. Benign myopathy with autosomal dominant inheritance: A report on three pedigrees. Brain, 1976, 99, 91-100.
Deconinck, N., Stojkovic, T. Ullrich congenital dystrophy and Bethlem myopathy: Current knowledge on the clinical spectrum, pathogenesis, and future therapeutic avenues of collagen VI related muscular dystrophies. Curr Pediatr Rev, 2009, 5, 28-35.
Gualandi, F., Urciuolo, A., Martoni, E., Sabatelli, P., Squarzoni, S., Bovolenta, M., et al. Autosomal recessive Bethlem myopathy. Neurology, 2009, 73, 1883-1891.
Haq, R., Speer, M., Chu, M., et al. Respiratory muscle involvement in Bethlem myopathy. Neurology, 1999, 52, 174-176.
Hicks, D., Lampe, A., Barresi, R., Charlton, R., Fiorillo, C., Bonnemann, C., et al. A refined diagnostic algorithm for Bethlem myopathy. Neurology, 2008, 70, 1192-1199.
Jöbsis, G., Boers J., Barth, P., de Visser, M. Bethlem myopathy: A slowly progressive congenital muscular dystrophy with contractures. Brain, 1999, 122, 649-655.
Lampe, A., Bushby, K. Collagen VI related muscle disorders. J Med Genet, 2005, 42, 673-685.
Lampe, A., Dunn, D., von Niederhausern, A., Hamil, C., Aoyagi, A., Laval, S., et al. Automated genomic sequence analysis of the three collagen VI genes: Applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. J Med Genet, 2005, 42, 108-120.
Pace, R., Peat, R., Baker, N., Zamurs, L., Mörgelin, M., Irving, M., et al. Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity. Ann Neurol, 2008, 64, 294-303.
Pepe, G., de Visser, M., Bertini, E., Bushby, K., Vanegas, O., Chu, M., et al. Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. Neuromuscul Disord, 2002, 12, 296-305.
Nadeau, A., Muntoni, F. Skin changes in Ullrich congenital muscular dystrophy. Neuromuscul Disord, 2008, 18, 982.
Nalini, A., Gayathri, N. Bethlem myopathy: A study of two families. Neurol India, 2010, 58, 665-666.
Mercuri, E., Clements, E., Offiah, A., Pichiecchio, A., Vasco, G., Bianco, F., et al. Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol, 2010, 67, 201-208.
Mohire, M., Tandan, R., Fries T., et al. Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy) Neurology, 1988, 38, 573-580.
Weil, D., Mattei, M., Passage, E., N’Guyen, V., Pribula-Conway, D., Mann, K., et al. Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen. Am J Hum Genet, 1988, 42, 435-445.
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