Bethlehem myopathy
DOI:
https://doi.org/10.67667/NEU.v24i2.136Keywords:
myopathy, joint contractures, follicular hyperkeratosisAbstract
Bethlem myopathy is a slowly progressive, phenotypically heterogeneous disease caused by a mutation in the collagen VI genes – COL6A1, COL6A2 and COL6A3. This disorder is clinically presented by a muscle weakness, arthrogryposis, congenital hip dysplasia and torticollis. The hallmark of the disease is the presence of flexion contractures of the elbows, wrists, ankles and interphalangeal joints of the last four fingers. Often skin abnormalities such as hypertrophic scar or follicular hyperkeratosis can be found.
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Copyright (c) 2023 Stanislava Blagoeva, Teodora Chamova, Ivailo Tournev
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