Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures
Open Access
- 1 April 1999
- journal article
- research article
- Published by Oxford University Press (OUP) in Brain
- Vol. 122 (4) , 649-655
- https://doi.org/10.1093/brain/122.4.649
Abstract
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.Keywords
This publication has 20 references indexed in Scilit:
- Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contracturesNature Genetics, 1996
- Genetic localization of Bethlem myopathyNeurology, 1996
- Early-onset benign limb-girdle myopathy with contractures and facial involvement affecting a father and daughterJournal of the Neurological Sciences, 1995
- Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new familiesNeuromuscular Disorders, 1994
- A Danish family with limb-girdle muscular dystrophy with autosomal dominant inheritanceNeuromuscular Disorders, 1994
- The heart in becker muscular dystrophy, facioscapulohumeral dystrophy, and bethlem myopathyMuscle & Nerve, 1992
- Structural and functional features of the .alpha.3 chain indicate a bridging role for chicken collagen VI in connective tissuesBiochemistry, 1990
- Early‐onset benign autosomal dominant limb‐girdle myopathy with contractures (Bethlem myopathy)Neurology, 1988
- Clinical trial in duchenne dystrophy. I. The design of the protocolMuscle & Nerve, 1981
- BENIGN MYOPATHY, WITH AUTOSOMAL DOMINANT INHERITANCEBrain, 1976