Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures

Bethlem myopathy is an early-onset benign autosomal dominant myopathy with contractures caused by mutations in collagen type VI genes. It has been rep orted that onset occurs in early childhood. We investigated the natural cou rse of Bethlem myopathy in five previously published kindreds and two novel pedigrees, with particular attention to the mode of onset in 23 children a nd the progression of weakness in 36 adult patients. Our analysis shows tha t nearly all children exhibit weakness or contractures during the first 2 y ears 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.