Bethlem Myopathy

Causes

What gene change causes Bethlem myopathy?

Bethlem myopathy is caused by a gene change in one of three genes: COL6A1, COL6A2, and COL6A3. These genes code for the protein that makes up collagen VI. Collagen is like the glue that holds the parts of our body together. Most people with Bethlem myopathy will have one gene change that is sufficient to cause disease while other people will have two gene changes that lead to disease. For people who only have one disease causing gene change, they may have inherited the genetic variant from one of their parents who also has symptoms, or the gene change may be a new genetic change in that individual. For people who have two disease causing gene changes, they must have a gene change on the copy of the gene inherited from their copy and a gene change on the copy of the gene inherited from their father. In this situation, the parents are not expected to have symptoms.

References
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Why does Bethlem myopathy cause muscle weakness and contractures?

Does everyone with Bethlem myopathy have a gene mutation?

Does anything make Bethlem myopathy worse?

Can I have a gene change in COL6A1, COL6A2, or COL6A3 and not have Bethlem myopathy?

Why does Bethlem myopathy cause muscle weakness and contractures?

Bethlem myopathy causes muscle weakness. The genes that code for Bethlem myopathy (COL6A1, COL6A2, or COL6A3) make up the collagen VI protein. The collagen VI protein is important for muscles, especially the skeletal muscles. Collagen VI is part of the extracellular matrix, which is formed in the space between cells to provide support for the muscles. When there is a gene change in one of the collagen VI genes, the collagen VI protein is not formed properly or there is less protein than is expected. This causes the extracellular matrix to not work properly and does not attach to the cells. The muscle tissues are not stable, which leads to progressive muscle weakness and contractures.

References
Does everyone with Bethlem myopathy have a gene mutation?

There are some people who have Bethlem myopathy who do not have an identifiable gene mutation. About 66% of people who have Bethlem myopathy based on physical signs and symptoms will have an identifiable gene mutation. About 56% of people who have Bethlem myopathy based on physical signs and symptoms and have a more severe presentation will have an identifiable gene mutation. If your testing does not reveal a disease causing gene mutation, it may be due to a limitation in technology and your gene mutation is unable to be detected by the technology that is currently available.

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Does anything make Bethlem myopathy worse?

Not enough activity and exercise may make Bethlem myopathy worse. It is important to have daily activity and exercise to maintain mobility and strength. You should talk with your doctor and/or therapist to come up with an exercise plan that works best for you.

References
Can I have a gene change in COL6A1, COL6A2, or COL6A3 and not have Bethlem myopathy?

Genetic variants in the COL6A1, COL6A2, or COL6A3 genes can cause multiple disorders. Some gene changes cause Bethlem myopathy and other gene causes Ullrich congenital muscular dystrophy. It is believed that variants in the collagen VI genes cause of spectrum of disorder with Bethlem myopathy on the mild end of the spectrum and Ullrich congenital muscular dystrophy on the severe end of the spectrum. Variants in the collagen VI genes can also cause autosomal dominant limb-girl muscular dystrophy and autosomal recessive myosclerosis myoatphy. The severity of these conditions typically falls in between Bethlem myopathy and Ullrich congenital muscular dystrophy.

References

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