Brain, Vol. 122, No. 4, 649-655,
April 1999
© 1999 Oxford University Press
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
1 Departments of Neurology and 2 Pediatrics, Academic Medical Center, Amsterdam, The Netherlands
Correspondence to:
Dr G. J. Jöbsis, Department of Neurology, (H2–214), Academic Medical Center, PO Box 22700, 1100 DE Amsterdam, The Netherlands E-mail: g.j.jobsis{at}amc.uva.nl
Bethlem myopathy is an early-onset benign autosomal dominant myopathy with contractures caused by mutations in collagen type VI genes. It has been reported that onset occurs in early childhood. We investigated the natural course of Bethlem myopathy in five previously published kindreds and two novel pedigrees, with particular attention to the mode of onset in 23 children and the progression of weakness in 36 adult patients. Our analysis shows that nearly all children exhibit weakness or contractures during the first 2 years of life. Early features include diminished foetal movements, neonatal hypotonia and congenital contractures which are of a dynamic nature during childhood. The course of Bethlem myopathy in adult patients is less benign than previously thought. Due to slow but ongoing progression, more than two-thirds of patients over 50 years of age use a wheelchair.
Bethlem myopathy; contractures; neonatal floppiness; natural course; impairment
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