Bethlem Myopathy

Overview

What is Bethlem myopathy?

Bethlem myopathy is a genetic disorder that affects the skeletal muscles and the connective tissue. The skeletal muscles are the muscles that are used for movement. The connective tissue is the part of our body that provides strength, support, and flexibility for the skin, joints, and other structures of the body. It is like the glue that holds the parts of our body together. Individuals who have Bethlem myopathy typically have proximal muscle weakness (muscle weakness close to the torso) and contractures. Contractures are joint stiffness that results in limited mobility of joints. Individuals with Bethlem myopathy most often have contractures of the long finger, elbows, and ankles. Symptoms of Bethlem myopathy can begin anywhere from prenatally (before birth) to adulthood. For most individuals, symptoms are limited to muscle weakness and contractures, and only rarely will have breathing problems.

Bethlem myopathy is caused by genetic variants that are damaging to the collagen VI genes (COL6A1, COL6A2, and COL6A3). There are other genetic conditions that are also caused by genetic variants to the collagen six genes. People who have Bethlem myopathy typically have the mildest symptoms.

References
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What are other names for Bethlem myopathy?

How common is Bethlem myopathy?

What health problems are part of Bethlem myopathy?

What type of disease is Bethlem myopathy considered?

What are other names for Bethlem myopathy?

Bethlem myopathy may also be referred to as a collagen type VI-related disorder. In Bethlem myopathy, collagen VI is not working properly, due to a genetic variant in one of the genes that code for collagen VI: COL6A1, COL6A2, or COL6A3.

When Bethlem myopathy was first described, it was referred to as benign myopathy with autosomal dominant inheritance. Other older terms that have been used are benign congenital myopathy, benign congenital myopathy muscular dystrophy, and benign congenital myopathy with contractures.

References
How common is Bethlem myopathy?

Bethlem myopathy is a rare condition. As of January 2019, it is estimated to affect less than 1 in 1,000,000 people. The condition is variable and can have mild symptoms, so it is believed that Bethlem myopathy is like underdiagnosed, which means that some people who have Bethlem myopathy have not been diagnosed with Bethlem myopathy.

References
What health problems are part of Bethlem myopathy?

The healthy problems associated with Bethlem myopathy are proximal muscle weakness and contractures. Proximal muscle weakness is weakness of the muscles closer to the torso. The muscle weakness becomes slowly worse over time. Contractures are joint stiffness that results in limited mobility of the joints. The joints typically cannot be completely straightened actively or passively. The contractures may come and go.

References
What type of disease is Bethlem myopathy considered?

Bethlem myopathy is considered a muscular dystrophy. Muscular dystrophies are a group of disorders that cause muscle weakness and loss of muscle mass because the proteins that make up the muscles are not formed properly. These symptoms become worse over time.

References

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