Bethlem Myopathy

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.

To determine who else in the family should be tested for Bethlem myopathy, the inheritance pattern must first be known. If Bethlem myopathy is inherited in an autosomal dominant pattern in your family, there is a 50% chance that your parents, siblings, and children are also affected, so they can be tested. If Bethlem myopathy is inherited in an autosomal recessive pattern in your family, there is a 25% chance that your siblings will also have Bethlem myopathy. For autosomal recessive inheritance, it is unlikely that anyone else in the family beside your siblings will be affected unless members of your family tend to have children with people who have a common blood relation. To talk about testing options for Bethlem myopathy in your family, you can consult with a genetic counselor in the United States or Canada or a clinical geneticist.

You can find other people who have Bethlem myopathy through various domains. There are national foundations and patient registries where you can cannot with other people who also have Bethlem myopathy or who have a child with Bethlem myopathy. Some of these include:

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.

People with Behlem myopathy typically have a normal lifespan.

A blood sample or a saliva sample is typically taken for genetic testing for Bethlem myopathy. The sample will be used to look for any gene changes in the DNA that may be damaging. Your doctor may order a test to look only at the genes responsible for Bethlem myopathy, or a panel of genes that look at many types of muscle disorders. Sometimes when a saliva sample is sent for testing, there is not enough DNA to perform the testing and another sample will be requested.

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.

Bethlem myopathy is a slowly progressive disease but treatment may help individuals with mobility and to improve quality of life. Physical therapy, stretching, splinting, and bracing may help symptoms of Bethlem myopathy from getting worse to increase muscle strength and maintain mobility.

Each person with Bethlem myopathy is different, so it is best to work with your care team to find what works best for you. It is important to have the right amount of activity as too little or too much activity may make symptoms worse.

If you have Bethlem myopathy, the doctors that you may see regularly are a neurologist, orthopedist, and/or physiatrist. You may also benefit from seeing a physical therapist or occupational therapist regularly. These specialists will help to management your condition and symptoms.

You can also consult with a clinical geneticist and/or genetic counselor in the US or Canada to ensure you are receiving all of the proper care.

There are other diseases that look like Bethlem myopathy. However, the symptoms of muscle weakness with normal to slightly elevated creatine kinase, muscle MRI findings suggestive of Bethlem myopathy, and no cardiac involvement, is pretty specific to Bethlem myopathy. When the contractures in Bethlem myopathy are subtle or missed by clinical examination, affected individuals may look like they may have a group of conditions called limb-girdle muscular dystrophies. When the contractures are a major feature in an affected individual, it may look like they have X-linked or autosomal dominant Emery-Dreifuss muscular dystrophy. The main difference with Bethlem myopathy and X-linked or autosomal dominant Emery-Dreifuss muscular dystrophy is that both of these types of Emery-Dreifuss muscular dystrophy are typically associated with serious heart problems, where as people with Bethlem myopathy do not have heart problems.

There is also a condition called Bethlem myopathy 2, which has similar signs and symptoms. People with Bethlem myopathy 2 have flexible joints, muscle weakness, contractures, and thickening or thinning of scars. These people have normal collagen VI and their muscle MRIs are different than what is typically seen in Bethlem myopathy. In Bethlem myopathy 2, collagen XII is not working properly due to a genetic change in the COL12A1 gene. Bethlem myopathy 2 is also called Ehlers Danlos syndrome, myopathic type.

The symptoms of Bethlem myopathy can range from before birth to adulthood, but most often begins in childhood to early adulthood. When symptoms begin before birth, the mother will feel decreased movements of the baby during pregnancy. After birth, affected individuals may have hypotonia, or low muscle tone, or torticollis, or when the neck muscles contract so the head tilts to one side. Onset in childhood will result in delayed motor developmental milestones, muscle weakness, and contractures. Onset in adulthood results in proximal muscle weakness and contractures of the ankle or long finger.

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.

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.

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.

A variant of uncertain significance in one of the genes for Bethlem myopathy means that a change in the DNA was identified that was different from what is expected, but it is unknown at the time if the DNA change is damaging to the gene, or if it is a normal variation. The genetic change most likely has never been seen before, so it is unknown how it affects the gene. When variants of uncertain significance are identified, it is not recommended to test other family members to see if they are also affected with Bethlem myopathy because the variant may not actually be disease causing.

When variants of uncertain significance are identified, your doctor may do testing on other family members to figure out the significance. Over time, the variant may be reclassified as a normal variation or a disease causing variant as new information becomes available. You can consult with a genetic counselor to help understand the significance of your test results. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Progressive muscle weakness and contractures are the signs and symptoms of Bethlem myopathy. The muscle weakness in Bethlem myopathy is typically proximal. That means that the muscle weakness is in the torso and the muscles closer to the torso. Contractures are when the joints are stiff and have limited mobility. People with Bethlem myopathy most often have contractures of the long finger, elbows, and ankles. These symptoms slowly become worse over time and people over 50 usually require assistance to get around outdoors. Symptoms may progress so slowly that some adults are not even aware of their muscle weakness

Rarely, people with Bethlem myopathy have breathing problems and require assistance with breathing at night. They may also have more frequent chest infections. If these symptoms are present, they are typically only seen later in life.

People with Bethlem myopathy do not have any involvement of the heart muscles and they have normal intelligence. Affected individuals may have some differences in their skin, such as raised, cone-shaped bumps on the skin, or differences in scarring (thickening or thinning of scars).

The main symptoms of Bethlem myopathy in childhood may be delayed motor milestones. This means that the child will start rolling, sitting, and walking a little later than expected. They may also have muscle weakness and contractures. During childhood, the contractures may come and go.

The main symptoms of Bethlem myopathy in adulthood are proximal muscle weakness (muscle weakness of and around the torso) and contractures of the ankles or long fingers. Eventually, almost all individuals who have Bethlem myopathy will have contractures of the fingers, wrists, ankles, and ankles. Many individuals over the age of 50 require assistance to get around outdoors. They may need to use a cane, crutches, or a wheelchair. Rarely, adults will have breathing problems later in life.

After an initial diagnosis of Bethlem myopathy, you should have an evaluation to exam the amount of muscle weakness and mobility that you have and to look for any joint contractures. These examinations may be performed by a neurologist, orthopedist, or physiatrist. There are also doctors in these specialties who specialize in neuromuscular disorders. Bethlem myopathy falls into the category of a neuromuscular disorder.

Evaluation with a physical therapist may be helpful to learn the best ways for stretching, splinting for contractures, and use of mobility aids. For those with ankle contractures where surgery is considered, orthopedic evaluation is recommended. Affected individuals should also be evaluated to see if they have any breathing problems that may be associated with 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.

There is no specific treatment for Bethlem myopathy. Treatments are based on symptoms that are present and aims to reduce symptoms and improve quality of life. Treatments for Bethlem myopathy usually include physical therapy, stretching, splinting, and bracing. This helps to increase mobility. Assistive devices such as a cane, crutches, or a wheelchair may be helpful for people who have trouble getting around outside of the home. Rarely, people with Bethlem myopathy may need surgery to help with joint contractures. Some people may also need support breathing with use of a mask, if they develop breathing problems later in life.

As of February 2019, there is no newborn testing for Bethlem myopathy. Symptoms can be present in infancy so if your doctor suspects a muscle problem in the newborn period, your doctor can order specific tests to look for Bethlem myopathy and other types of muscle disorders.

There is more than one test for Bethlem myopathy. Muscle MRI and/or muscle biopsy may be performed and a clinical diagnosis of Bethlem myopathy can be made from those tests. In order to have a genetic diagnosis, genetic testing must be performed. If Bethlem myopathy specifically is suspected, your doctor may order genetic testing and look only at the COL6A1, COL6A2, and COL6A3 genes. Your doctor may also order a panel of genes associated with many different types of muscular dystrophies or whole exome sequencing, which looks at all of the coding genes in our body at the same time. For each of these tests, the lettering of the genes is read and looks for any "misspellings" in the genes. Testing may also be performed that looks for small pieces of the gene that is missing or doubled. Sometimes these misspellings or pieces that are missing or doubled can be damaging to the gene.

If there is someone in your family who is known to have Bethlem myopathy and already had genetic testing, testing can be ordered to look only at the specific genetic variant that was previously found in your family. This way, testing can give you a yes or no answer to see if you also have Bethlem myopathy or not.

As of February 2019, there is clinical research happening on Bethlem myopathy. The website, [link url="www.clinicaltrials.gov” target=”_blank”>www.clinicaltrials.gov provides the most up to date information regarding ongoing research and clinical trials for Bethlem myopathy. The Muscular Dystrophy Association, Cure CMD, Muscular Dystrophy UK, Muscular Dystrophy Canada, and Muscular Dystrophy Australia also provide information about research for muscular dystrophies, including 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.

If you have Bethlem myopathy, you will always have symptoms, once the symptoms begin. The symptoms can begin before birth or adulthood or anywhere in between. The symptoms will become worse over time, but the progression is slow. The majority of the people over the age of 50 who have Bethlem myopathy will require additional support for getting around outdoors. Rarely, individuals will develop breathing problems later in life.

If you have Bethlem myopathy that is inherited in an autosomal dominant pattern (i.e. there was one disease causing variant identified that is thought to be sufficient to cause disease), there will be a 50% chance for each of you children to inherit the genetic variant for Bethlem myopathy.

If you have Bethlem myopathy that is inherited in an autosomal recessive pattern (ie. there were two disease causing variants identified that are thought to be causing disease), the chance for you to have a child with Bethlem myopathy is very low. Your partner should have carrier screening for Bethlem myopathy to see if they are a carrier. If your partner is not a carrier, your children will only be carriers; they would not be affected. If you partner is a carrier, there would be a 50% chance to have a child with Bethlem myopathy.

You can consult with a genetic counselor to learn all about your screening and reproductive planning options. In the United States, you can find a genetic counselor through the [link url=" https://www.nsgc.org/findageneticcounselor ” target=”_blank”>National Society of Genetic Counselors. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

If you have Bethlem myopathy, your doctor should know that the condition primarily affects the muscles. It is important to get regular activity to maintain mobility and reduce symptoms. People with Bethlem myopathy typically do not have any major medical problems beside muscle weakness.

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.

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.

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.

Bethlem myopathy is usually inherited in an autosomal dominant pattern. We have two copies of the genes that cause Bethlem myopathy; one from our mother and one from our father. Autosomal dominant inheritance means that if an individual has a genetic change in one copy of the gene that is enough to show symptoms and have the condition. For individuals who have autosomal dominant Bethlem myopathy, there would be a 50% chance to have a child with Bethlem myopathy in each pregnancy.

Sometimes, Bethlem myopathy can be inherited in an autosomal recessive pattern. Autosomal recessive inheritance means that an individual must have a genetic change in both copies of the gene in order to have the condition. Their parents would only have one genetic change and have not been reported to have symptoms. For these families, the unaffected parents would be called carriers. When two parents are carriers for autosomal recessive Bethlem myopathy, there is a 25% chance to have a child with Bethlem myopathy in each pregnancy.

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.

There are many different ways to donate money to help research in Bethlem myopathy. You can donate money to muscular dystrophy foundations, such as the Muscular Dystrophy Association, Cure CMD, Muscular Dystrophy UK, Muscular Dystrophy Canada, and Muscular Dystrophy Australia. You can also donate to help fund research in rare disease in general through National Organization of Rare Disorders (NORD).

There are multiple ways to be tested for Bethlem myopathy. Bethlem myopathy is typically suspected based off of physical signs and symptoms. These people typically will have proximal muscle weakness (muscle weakness that of or near the torso) and contractures (stiffness of joints causing limited mobility) most commonly of the long fingers, elbows, and ankles. Bethlem myopathy may be tested by blood tests for an enzyme called creatine kinase that leaks from the muscles when muscles are breaking down, muscle MRI, muscle or skin biopsy, or genetic testing. Typically, doctors order the least invasive tests first to look for a diagnosis before ordering more invasive testing.

Creatine kinase levels are usually normal or slightly elevated in people who have Bethlem myopathy. Creatine kinase is an enzyme that leaks from the muscles when they break down. Muscle MRI of the thigh or calf muscles may be performed. For affected individuals, the MRI will show differences in the vasti muscles, which are muscles in the thigh, and the calf muscles. If a muscle biopsy is performed, the results will show what is called myopathic or dystrophic changes. Testing to look specifically for collagen VI in the muscles is typically normal or only slightly abnormal. Testing to look for collagen VI activity on skin cells is typically abnormal and indicates that the person is affected with Bethlem myopathy. Genetic testing can also be performed, which will look for any genetic changes in the COL6A1, COL6A2, and COL6A3 genes.

Clinical research on Bethlem myopathy can be found on the website [link url="www.clinicaltrials.gov” target=”_blank”>www.clinicaltrials.gov. This website provides the most up to date information regarding ongoing clinical research and clinical trials.The Muscular Dystrophy Association, Cure CMD, Muscular Dystrophy UK, Muscular Dystrophy Canada, and Muscular Dystrophy Australia also provide up to date information regarding research for muscular dystrophies.

You can find a center of excellence in Bethlem myopathy in the United States through the Muscular Dystrophy Association (MDA). Through their website, you can find a MDA care center. MDA care centers are located throughout the United States and make up a multi-disciplinary care team of experts in muscular dystrophy.

In the United Kingdom, Muscular Dystrophy UK has information on their website for muscular dystrophy care clinics and supporting information on their website.

Muscular Dystrophy Canada is a good resource for those living in Canada for find centers of excellence in Bethlem myopathy.

Muscular Dystrophy Australia is a good resource for those living in Australia.

Cure CMD also lists clinics on their website comprised on doctors who specialize in muscular dystrophies. As of February 2019, Cure CMD lists clinics in the United States, Australia, Canada, Germany, Serbia, and Brazil.

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.

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.

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.

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.

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.

It is possible for your child to have Bethlem myopathy without having an identifiable gene mutation. About 66% of people who have Bethlem myopathy based on physical signs and symptoms have an identifiable gene mutation. That means that about 34% of people who have Bethlem myopathy based on clinical signs and symptoms do not have an identifiable gene mutation. If your child’s testing does not reveal a disease causing gene mutation, it may be due to the limitations in current technology.

It is possible for your child to be the first one in the family with Bethlem myopathy. If autosomal dominant inheritance is established in your child, your child can have a de novo or new gene mutation in one of the genes for Bethlem myopathy. These new genetic changes happen all of the time and are a normal part of biology. We all have new genetic mutations, which make us not exactly like our parents.

If autosomal recessive inheritance is established in your child, you and your partner are likely carriers for Bethlem myopathy. Carriers of Bethlem myopathy typically do not have symptoms. The chance for two carriers of Bethlem myopathy to have a child with Bethlem myopathy is 25% for each pregnancy.

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.

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.

If you have Bethlem myopathy, there are no specific agents to avoid. You should avoid though too little or too much activity. It is important to have the right amount of physical activity to maintain mobility. In 2019 a study with a small number of people with Bethlem myopathy found that moderate-intensity aerobic exercise is helpful. It is important to talk to your doctor about the right amount of physical exercise for you if you have Bethlem myopathy.

There are good support groups for people with Bethlem myopathy or for people who have close family members living with Bethlem myopathy. You can find support groups through the following organizations:

The combination of features seen in Bethlem myopathy is pretty specific to Bethlem myopathy: muscle weakness with normal to mildly evaluated creatine kinase, contractures, muscle MRI findings, no heart involvement, and normal intelligence. Staining for collagen VI in skin cells will show a decrease in activity, which is specific to collagen VI related disorders.

There are no forms of Bethlem myopathy that are not genetic. There are some muscles conditions though that are not genetic and can be acquired. You can consult with a clinical geneticist for a complete evaluation if you are unsure of your diagnosis. You can find a clinical geneticist in the United States through the American College of Medical Genetics and Genomics.