Bethlem Myopathy

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When am I going to die from Bethlem myopathy?

People with Behlem myopathy typically have a normal lifespan.

References
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Is it risky for me to get pregnant if I have Bethlem myopathy?

How severe will my symptoms get if I have Bethlem myopathy?

I have Bethlem myopathy and I do not want to pass it on to my children. Is that possible?

When should I tell my child they have Bethlem myopathy?

How do I tell my family members about my diagnosis of Bethlem myopathy?

Can I be physically active if I have Bethlem myopathy?

Do people with Bethlem myopathy experience pain?

How will Bethlem myopathy affect my daily activities?

Does Bethlem myopathy affect learning and intellectual development?

Is it risky for me to get pregnant if I have Bethlem myopathy?

It is typically not risky to get pregnant if you have Bethlem myopathy. There are few reports in the literature of woman who have Bethlem myopathy and had heart problems and an increase in muscle weakness during pregnancy. After the baby was born, these symptoms went away and the women returned to their pre-pregnancy baseline.

References
  • Genetics home reference, Collagen VI-related myopathy, https://ghr.nlm.nih.gov/condition/collagen-vi-related-myopathy Accessed 21FEB19
  • Lampe AK, Flanigan KM, Bushby KM, et al. Collagen Type VI-Related Disorders. 2004 Jun 25 [Updated 2012 Aug 9]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.Available from: https://www.ncbi.nlm.nih.gov/books/NBK1503/
  • Flöck, A., Kornblum, C., Hammerstingl, C., Claeys, K. G., Gembruch, U., & Merz, W. M. (2014). Progressive cardiac dysfunction in Bethlem myopathy during pregnancy. Obstetrics & Gynecology, 123(2), 436-438.
  • Nunes, C., Barros, J., Centeno, M., Pinto, L., & Graça, L. M. (2014). Bethlem myopathy: pregnancy and delivery. Archives of gynecology and obstetrics, 289(1), 219.
How severe will my symptoms get if I have Bethlem myopathy?

The symptoms of Bethlem myopathy progress slowly over time and there is no way to predict how the condition will progress in each person. Bethlem myopathy is typically on the milder spectrum of muscular dystrophies. Some adults who have Bethlem myopathy may not even realize that they have muscle weakness.

The majority of adults with Bethlem myopathy though, do require assistance with getting around. Rarely, there can be problems with breathing, which may require intervention.

References
I have Bethlem myopathy and I do not want to pass it on to my children. Is that possible?

It is possible to have Bethlem myopathy and not pass it on with the help of assistive reproductive technology. If autosomal dominant inheritance is established in your family, there is a 50% chance that you pass on the genetic variant for Bethlem myopathy. Prior to pregnancy, you can go through in-vitro fertilization (IVF) with pre-implantation genetic diagnosis (PGD). This process takes the sperm and egg outside of the body and creates an embryo in the lab. The embryo grows for a few days and the embryos can then be tested to see if they have the variant or do not have the variant. Only the embryos that do not have the variant are used for a pregnancy.

If autosomal recessive inheritance is established, it is very unlikely that your child will have Bethlem myopathy. Your partner should be tested to see if they are also a carrier. If they are a carrier, then there is a 50% chance to have a child with Bethlem myopathy and the same testing can be performed preconception by IVF with PGD. If your partner is not a carrier, the chance to have a child with Bethlem myopathy is greatly reduced. If you are the unaffected parents of a child with Bethlem myopathy and you are both carriers, the chance to have an affected child is 25% and the same testing preconception can be performed.

References
  • Lampe AK, Flanigan KM, Bushby KM, et al. Collagen Type VI-Related Disorders. 2004 Jun 25 [Updated 2012 Aug 9]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.Available from: https://www.ncbi.nlm.nih.gov/books/NBK1503/
When should I tell my child they have Bethlem myopathy?

It is often hard to tell your child that they are affected with Bethlem myopathy. There is no perfect time to tell your child that they have a genetic condition. Research shows that it is best when children learn about a genetic condition slowly throughout their childhood. When they learn about this type of information at a younger age, it is typically less shocking to them. It may have a negative affect if children do not find out that they have a genetic condition until they are older. Research has shown that it may affect their coping and emotional response, identity, and reproductive decision making.

When you do tell your child that they have Bethlem myopathy, remember to keep it simple. You can give small amounts of information over time. Remember to take into account their age and developmental stage to make the conversation appropriate and at the child's pace. It is important to make sure that they understand correctly and to answer any questions that they may have. The conversation may be ongoing and evolve over time. This will allow both you and your child to learn about the condition together. It may also be useful to meet with a genetic counselor. You can find a genetic counselor in the United States through the National Society of Genetic Counselors. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website. The genetic counselor can help to discuss the genetic diagnosis and answer any questions that your child may have. A genetic counselor can also help to facilitate the discussion with your child when they learn about Bethlem myopathy, or to help come up with a plan to tell your child.

References
How do I tell my family members about my diagnosis of Bethlem myopathy?

It is often hard to tell family members that you have been diagnosed with Bethlem myopathy. It is important though to share this information, especially with your family members who same the same genes as you and may be at risk as well. If the genetic cause in your family was identified to the autosomal dominant inheritance, there is a 50% that your parents, siblings, and children are also affected. If the genetic cause in your family was identified to be autosomal recessive inheritance, there is a 25% chance that your siblings are also affected. Your parents are most likely to be carriers and there is a chance additional relatives are as well. More distant relatives have a chance to have a child with Bethlem myopathy is both them and their partners are carriers.

Research shows that telling a family member that you are affected with a genetic condition can be viewed like a process rather than an act. This thought process may make it easier to tell your family members. Some people chose to tell their family about genetic information in more practical terms, and other people choose to tell their family members about their genetic information through opportunities of normal life (i.e. family events or gatherings, or holidays). It may take you a long time to find the "right" time to tell your family and your family members may respond differently to this information. You can also talk with a genetic counselor to help facilitate the process of telling your family members about Bethlem myopathy and the sharing of genetic information. In the United States, you can find a genetic counselor through the National Society of Genetic Counselors. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

References
  • Forrest, K., Simpson, S. A., Wilson, B. J., Van Teijlingen, E. R., McKee, L., Haites, N., & Matthews, E. (2003). To tell or not to tell: barriers and facilitators in family communication about genetic risk. Clinical genetics, 64(4), 317-326.
  • Global genes, How to discuss genetic disease with your loved ones https://globalgenes.org/toolkits/discussgenetics/who-to-tell/ Accessed 27FEB19
Can I be physically active if I have Bethlem myopathy?

You can be physically active if you have Bethlem myopathy. It is important to get daily activity to help maintain mobility and reduce symptoms. Exercising will help to keep your body as flexible as possible, maintain mobility, and decrease pain. It is best to speak with you doctor or physical therapist to understand the best exercises and activities for you.

You can also enjoy recreational activities if you have Bethlem myopathy. You can find activities that work to make your body feel good, such as walking or swimming. Over time, you will learn what works for your body and what does not. It is important to listen to your body so you do not experience cramping, pain, or fatigue.

References
Do people with Bethlem myopathy experience pain?

Some people with Bethlem myopathy experience pain. Pain can be a result when muscles and joints are not being used. Weakness in the muscles and contractures in the joints may cause limited mobility, and therefore the muscles and joints may not always be used. To reduce pain, it is important to consult with your doctors and therapists to find the best exercises and stretches for you. Routine activity is important to maintain mobility and reduce pain. It may also be helpful to change positions often throughout the day and night.

References
  • Muscular Dystrophy Canada, http://www.muscle.ca/ Accessed 27FEB19
  • Lampe AK, Flanigan KM, Bushby KM, et al. Collagen Type VI-Related Disorders. 2004 Jun 25 [Updated 2012 Aug 9]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.Available from: https://www.ncbi.nlm.nih.gov/books/NBK1503/
  • Muscular Dystrophy UK, https://www.musculardystrophyuk.org/ , Accessed 21FEB19 Muscular Dystrophy Canada, http://www.muscle.ca/ Accessed 21FEB19
  • Muscular Dystrophy Association, https://www.mda.org/ Accessed 27FEB19
How will Bethlem myopathy affect my daily activities?

Depending on the severity of the disease, each person with Bethlem myopathy may have different difficulties in their everyday life. People with Bethlem myopathy may have difficulty walking far distances, difficulty getting up from a seated position, stiffness after sitting for too long, or frequently falling. Some people also have fatigue and pain. Most people with Bethlem myopathy over the age of 50 need an assistance getting around with use of a cane, crutches, or a wheelchair. Some people require assistance much earlier in life.

References
Does Bethlem myopathy affect learning and intellectual development?

People with Bethlem myopathy have typical learning and intellectual development. Some people who begin to have muscle weakness early in life may begin sitting or walking independently a little later than expected.

References

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