Limb-girdle muscular dystrophy

The geneticist and the genetic counselor will likely ask you if there are any questions before and after the exam. Sometimes the genetic counselor will come into the exam room before the geneticist in order to go over some information before, and to answer questions. This depends on the clinic. To be the best prepared for the visit it is beneficial to write down questions you have before the appointment because it is easy to forget them.

If you have a child found to have limb-girdle muscular dystrophy type 2, there is a 25% (1 in 4) chance with every pregnancy to have another child with the same condition (assuming both parents are the same). If your child has a genetic diagnosis, you can test future pregnancies or children at birth for the condition. Since this condition is inherited, you and your partner should also have testing for the same mutations found in your child. People who have one mutation in one copy of the associated gene are called carriers of LGMD2. This means that they carry one mutation but do not show symptoms of the condition. You and your partner’s siblings, parents, and other relatives can consider testing for the same genetic mutations, and genetic counseling to learn more about their individual risks.

If you are concerned about the risk of having a child with LGMD and the options available, you may wish to speak to a certified genetic counselor, who can answer your questions and tailor the information to your specific situation. A list of genetic counselors is available on the National Society of Genetic Counselors website as well as on the Canadian Association of Genetic Counsellors website.

Limb-girdle muscular dystrophy type 2A (LGMD2A) is inherited by both males and females and is found in every country and among all ethnic groups. In fact, it is the most common type of limb girdle muscular dystrophies worldwide with the exception of Finland, Denmark, and Norway. Although the percentage varies by specific population, approximately 30% of all cases of limb-girdle muscular dystrophy are LGMD2A. In Spain, Italy, England, Turkey, Russia, China, Brazil, and Australia, LGMD2A is the most common type of LGMD with 80% of individuals with LGMD in Spain having type 2A, 75% in Russia, 50% in Turkey, 47% in India, and about 32% in Italy. Individuals from these ethnicities may be more likely to be carriers of changes in the CAPN3 gene causing LGMD2A.

Overall, LGMD has a disease prevalence of up to 1/14,500 people and a carrier frequency of up to 1/150. LGMD2A is inherited in an autosomal recessive manner. We all inherit two copies of each of our genes from our parents. One copy comes from mom and one comes from dad. An autosomal recessive condition means that a person must have a mutation in both copies of the CAPN3 gene in order to have LGMD2A.

Each sibling of a person with LGMD2A will have a 67% chance of being a carrier for LGMD2A and have an increased risk of having a child with the condition. Individuals who are affected with LGMD2A are unlikely to have children who are affected with the condition. This would only be possible if their partner happened to also be a carrier of the same subtype of LGMD2A.

If you are concerned about the risk of having a child with LGMD2A and the options available, you may wish to speak to a certified genetic counselor, who can answer your questions and tailor the information to your specific situation. A list of genetic counselors is available on the National Society of Genetic Counselors website as well as on the Canadian Association of Genetic Counsellors website.

Support organizations are good resources to find other people with the same condition as you. These organizations can help connect you with other families and individuals with limb-girdle muscular dystrophy type 2D.

Orpha.net is a great option to learn more about clinical trials and research projects going on in limb-girdle muscular dystrophy throughout the world. You can also ask your doctor and/or genetic counseling to learn more about the options available to you. You may also try searching limb-girdle muscular dystrophy at clinical.trials.gov.

PubMed (http://www.ncbi.nlm.nih.gov/pubmed) is a great resource for current publications in limb-girdle muscular dystrophy. Often support groups also do a great job of distributing information about research in a specific condition in easier to understand formats.

You can learn more about variants of uncertain significance through the various laboratories that offer genetic testing. Many laboratories explain their processes for interpreting variants found in their tests. There is a very strict criteria developed by the American College of Medical Genetics (ACMG). This criteria attempts to ensure that each laboratory is interpreting these variants in the same way.

The Parent Technical Assistance Center Network (http://www.parentcenterhub.org/find-your-center/) provides a list of training and information centers. These centers provide information on early intervention (EI) services and other training for parents who are taking care of children with disabilities. This site provides information on centers in states across the United States.

You should see specialists who are experts in rare diseases, specifically those that are rare metabolic disorders. Orpha.net provides information on centers of expertise throughout the world. These centers have doctors and other specialists who are experts in their fields.

There is the option to have genetic testing for Limb Girdle Muscular Dystrophy (LGMD) on embryos before pregnancy. This is called preimplantation genetic diagnosis (PGD). It involves in vitro fertilization (IVF) and testing the fertilized embryos before they are implanted for the genetic changes (mutations) causing LGMD in a specific family. Only the embryos that do not have the genetic mutations causing would be implanted back in the mother. This can be done if the two mutations causing limb-girdle muscular dystrophy have been identified in the family. There is also the option to do egg or sperm donation by a donor who does not have a genetic mutation in the gene causing the condition. To find a genetic counselor near you who can discuss preimplantation and prenatal testing, visit the National Society of Genetic Counselors Find a Genetic Counselor website.

Many different laboratories offer testing for Limb-girdle muscular dystrophies (LGMD) To learn more about what labs offer screening you can visit GeneTests.org.

Also, in 2016, there is a free testing program sponsored by a group of nonprofits that tests people who qualify for many of the types of LGMD. To learn more about the program, speak with your doctor and/or look at the LGMD testing website.

To find a medical professional nearby who can discuss information and testing, A listing of medical geneticists can be found at the [link url=" https://www.acmg.net/ACMG/Find_a_Member/ACMG/ISGweb/Find_a_Member_2.aspx?hkey=3b44e43a-bfa1-41b0-baab-f22f45245040 ” target=”_blank”> American College of Medical Geneticists website and genetic counselors can be found on the [link url=" http://nsgc.org/p/cm/ld/fid=164″ target=”_blank”>National Society of Genetic Counselors website.

Limb-girdle muscular dystrophy is abbreviated LGMD. Autosomal dominant types of LGMD are termed as type 1, therefore the abbreviation becomes LGMD1. Autosomal recessive limb-girdle muscular dystrophies are termed as type 2, therefore the abbreviation for these becomes LGMD2. A letter at the end specifies the specific subtype of limb-girdle muscular dystrophy. For example: limb-girdle muscular dystrophy type 2E can be abbreviated LGMD2E.

Limb-girdle muscular dystrophy type 2D is an extremely variable condition. The symptoms and severity of this condition can vary from person to person. For example, some individuals with this condition have very mild symptoms that do not affect lifespan. However, unfortunately some have severe symptoms that cause them to pass away in their 20s. It does not affect intelligence or mental ability. Individuals with limb-girdle muscular dystrophy type 2D begin to show symptoms by the age of 10. But they can also not begin until adulthood. It appears that the later the symptoms appear, the less severe they are. It is possible that the muscles weaken so much that it is necessary for the individual to use a wheelchair. In the minority of cases (about 20% of the time) it is possible that the heart muscles can also become weak. Compared to other types of limb-girdle muscular dystrophy, type 2D specifically is less likely to have weakening of the heart muscles.

Limb-girdle muscular dystrophy type 2E is a genetic condition that affects the muscles in the hips, abdomen, and shoulder. In this condition the muscles in these areas progressively weaken. The symptoms and severity of this condition can vary from person to person. For example, many individuals with this condition have a severe form of the disorder that can be fatal in the late teens. However, some have mild symptoms or remain asymptomatic throughout life. In general, most individuals with this condition live into their 30s.

In people who have limb-girdle muscular dystrophy type 2E, the bone at connects the arm with the collar bone (called the scapula) does not work the way it should. This causes a wing-like shape to the upper back. Additionally, the calf muscles are bigger than expected (calf hypertrophy).

Individuals with limb-girdle muscular dystrophy type 2E begin to show symptoms before the age of 10. But they can also not begin until adulthood. It appears that the later the symptoms appear, the less severe they are. It is likely that the muscles weaken so much that it is necessary for the individual to use a wheelchair. This usually happens between the ages of 10 and 15.

In the minority of cases (about 20% of the time) it is possible that the heart muscles can also become weak. Compared to other types of limb-girdle muscular dystrophy, type 2E specifically is less likely to have weakening of the heart muscles.

If your child is having genetic testing done due to a clinical or enzymatic limb-girdle muscular dystrophy type 2, it is likely that you will find a mutation. Enzymatic diagnosis means that your doctor has ordered testing to look at the protein instruction made by the suspect gene. If this gene is not working like we expect it to, there is a high chance of finding a mutation in the gene. However, it is possible that your doctor and genetic counseling may think you have the condition even if your testing comes back negative. If your testing comes back negative, your doctor and genetic counselor may recommend testing for other genes that are known to cause similar types of limb-girdle muscular dystrophy.

Limb-girdle muscular dystrophy (LGMD) is not just one genetic disease, it is the name for a group of disorders which have different causes, but many of the same health problems. The common feature of LGMDs is weak and wasted shoulder and hip muscles (the limb-girdles). This weakness usually worsens over time and can cause problems walking, lifting arms, and getting up from sitting. With some forms of LGMD, these muscles can weaken to the point that a wheelchair or other assistive devices are necessary for mobility. Some types of LGMD can also involve the heart (cardiac) and ability to breathe (respiratory muscles).

Different types of LGMD may get worse or progress faster or slower, so identifying the specific cause through genetic testing may be helpful to get an idea of what to expect. Some types progress quickly, causing serious problems moving over the course of a few years, while others may progress very slowly and cause minimal problems.

Voluntary muscles are the muscles that we control to move our bodies. We also have involuntary muscles that we don’t consciously control such as the muscles in our digestive system and blood vessels. LGMDs generally don’t affect these involuntary muscles, with the exception of the heart which can be affected in some types.

The onset of LGMD can occur during childhood, teenage years, or adulthood. The health problems and severity of the condition can vary from person to person. For example, some individuals with LGMD have very mild symptoms that do not affect lifespan. However, others have severe symptoms that cause them to pass away early. In general, it seems that the later the symptoms appear, the less severe they are.

Intelligence is normal in people affected with LGMDs, as are the senses. Both genders are affected equally.

There are more than 20 types of LGMD, caused by mutations in many different genes. Some are inherited through the family in a dominant manner, while others are inherited in a recessive manner. Limb-girdle muscular dystrophies are separate from the more common X-linked muscle conditions like Duchenne Muscular Dystrophy and Becker Muscular Dystrophy.

More information on the LGMDs can be found at MDA LGMD page
There is a very good summary about LGMD written for healthcare professionals at GeneReviews page for LGMD.

To find a medical professional nearby who can discuss information and testing, A listing of medical geneticists can be found at the [link url=" https://www.acmg.net/ACMG/Find_a_Member/ACMG/ISGweb/Find_a_Member_2.aspx?hkey=3b44e43a-bfa1-41b0-baab-f22f45245040 ” target=”_blank”> American College of Medical Geneticists website and genetic counselors can be found on the [link url=" http://nsgc.org/p/cm/ld/fid=164″ target=”_blank”>National Society of Genetic Counselors website.

Limb-girdle muscular dystrophy type 2D is a genetic condition that affects the muscles in the hips, abdomen, and shoulder. In this condition the muscles in these areas progressively weaken. The symptoms and severity of this condition can vary from person to person. For example, some individuals with this condition have very mild symptoms that do not affect lifespan. However, unfortunately some have severe symptoms that cause them to pass away in their 20s. It does not affect intelligence or mental ability.

Individuals with limb-girdle muscular dystrophy type 2D begin to show symptoms by the age of 10. But they can also not begin until adulthood. It appears that the later the symptoms appear, the less severe they are. It is possible that the muscles weaken so much that it is necessary for the individual to use a wheelchair.

In the minority of cases (about 20% of the time) it is possible that the heart muscles can also become weak. Compared to other types of limb-girdle muscular dystrophy, type 2D specifically is less likely to have weakening of the heart muscles.

Limb-girdle muscular dystrophy type 2E affects the muscles in the hips, abdomen, and shoulder. In this condition the muscles in these areas progressively weaken. The symptoms and severity of this condition can vary from person to person. For example, some individuals with this condition have a severe form of the disorder that can be fatal in the late teens. However, some have mild symptoms or remain asymptomatic throughout life. In people who have limb-girdle muscular dystrophy type 2E, the bone at connects the arm with the collar bone (called the scapula) does not work the way it should. This causes a wing-like shape to the upper back. Additionally, the calf muscles are bigger than expected (calf hypertrophy).

Individuals with limb-girdle muscular dystrophy type 2E begin to show symptoms before the age of 10. But they can also not begin until adulthood. It appears that the later the symptoms appear, the less severe they are. It is likely that the muscles weaken so much that it is necessary for the individual to use a wheelchair. This usually happens between the ages of 10 and 15.

In the minority of cases (about 20% of the time) it is possible that the heart muscles can also become weak. Compared to other types of limb-girdle muscular dystrophy, type 2E specifically is less likely to have weakening of the heart muscles.

The health problems seen in limb-girdle muscular dystrophy type 2D can vary greatly from one affected individual to another. It is most common that affected individuals will begin to show symptoms around age 10, but it is possible that symptoms will not show up until adulthood. It appears that the later the symptoms appear, the less severe they are. It is possible that the muscles weaken so much that it is necessary for the individual to use a wheelchair.

The symptoms of limb-girdle muscular dystrophy type 2E can vary greatly from one affected individual to another. It is most common that affected individuals will begin to show symptoms around age 10, but it is possible that symptoms will not show up until adulthood. It appears that the later the symptoms appear, the less severe they are. It is most likely that the muscles weaken so much that it is necessary for the individual to use a wheelchair by age 10-15. Unfortunately, some individuals with this condition have a severe form of the disorder that can be fatal in the late teens. However, in general these individuals live into their 30s.

When there is a mutation in the SGCB gene it causes limb-girdle muscular dystrophy type 2E and problems for the body. The SGCB gene stands for “sarcoglycan beta”. This gene is responsible for giving instructions to the body on how to make a part of a protein complex (group of proteins) called the sarcoglycan protein complex. Specifically, it makes the beta component (called beta subunit) of this complex. This protein complex is found in the muscles and helps keeps the structure of the muscles stable. The exact role of this protein is not well understood. However, the amount of protein deficiency seems to be associated with how severe the disease is. What that means is, the less working protein there is, the more severely someone will be affected with the condition.

When there is a mutation in the SGCA gene it causes limb-girdle muscular dystrophy type 2D and problems for the body. The SGCA gene stands for “sarcoglycan alpha”. This gene is responsible for giving instructions to the body on how to make a part of a protein complex (group of proteins) called the sarcoglycan protein complex. Specifically, it makes the alpha component (called a subunit) of this complex. This protein complex is found in the muscles and helps keeps the structure of the muscles stable. It does this by attaching to another protein complex called the dystrophin complex. This helps protect the muscles from injury and helps to keep them strong.

There is nothing that can be done to cause or prevent limb-girdle muscular dystrophy type 2D. In this condition the muscles in the hips and shoulders progressively weaken. The symptoms and severity of this condition can vary from person to person. For example, some individuals with this condition have very mild symptoms that do not affect lifespan. However, unfortunately some have severe symptoms that cause them to pass away in their 20s. It does not affect intelligence or mental ability.

Individuals with limb-girdle muscular dystrophy type 2D may begin to show symptoms by the age of 10. Others do not begin to show symptoms until adulthood. It appears that the later the symptoms appear, the less severe they are and the slower the disease progression may be. It is possible that the muscles weaken so much that it is necessary for the individual to use a wheelchair.

In the minority of cases (about 20% of the time) it is possible that the heart muscles can also become weak. Compared to other types of limb-girdle muscular dystrophy, type 2D specifically is less likely to have weakening of the heart muscles.

Limb-girdle muscular dystrophies (LGMD) are genetic conditions. This means that they are caused by a mutation (change) in a gene. A gene is an instruction to our bodies on how to function and develop. Each subtype of LGMD is caused by a change is a different gene. When there is a mutation in a gene, it cannot do its job as well. This causes someone to have the condition.

The genes involved in LGMD typically encode the instructions to make proteins that are involved in muscle function. Some of these proteins are supposed to function in the muscle cell membrane, while others do their jobs inside the cell helping with the muscle contractions. A genetic mutation may cause the protein to be deficient or absent. Symptoms may be more severe if the protein is completely missing, than if there is just too little of the protein.

Limb-girdle muscular dystrophies are divided into two categories depending on how they are inherited.
LGMD type 1 shows dominant inheritance. This means that one faulty copy of a gene, inherited from one parent, is enough to cause the condition.

Here is a list of the type 1 LGMDs (dominant) along with the gene that is associated with that particular condition in brackets:

If you and your partner are both carriers of one limb-girdle type 2 (LGMD2) mutation, there is a 25% chance with each pregnancy to have a child with limb-girdle muscular dystrophy type 2. There is also a 50% chance with each pregnancy that your child will also be a carrier of one mutation. There is a 25% chance with each pregnancy that your child will have no mutations in either copy of the associated gene.

The term “limb-girdle” is a term that describes voluntary muscles, mainly those close to the body around the hips and shoulders. The shoulder girdle includes the bones and the muscles in the shoulder and upper arms. The pelvic girdle includes the bones and muscles of the pelvic area and thighs. Together these are called the limb girdles. The muscles belonging to the limb girdles are those that are most affected in limb-girdle muscular dystrophies. Voluntary muscles are in the limb girdles are the muscles we control to move our arms and legs.

A “variant” is another name for change in a gene. We call changes in genes “variants” when we do not know for sure where it is a harmful change (mutation) or where it is not a harmful change (benign). Many people also refer to a “variant” as a “variant of uncertain significance.” If you have testing done and are found to have a “variant”, you should speak to your doctor or genetic counselor to learn more about what that means for your continued care.

A “variant” is another name for change in a gene. We call changes in genes “variants” when we do not know for sure whether it is a harmful change (mutation) or whether it is not a harmful change (benign). If you have testing done for limb-girdle muscular dystrophy and are found to have a “variant” in an associated gene, it means that we do not know exactly if it is a mutation or a benign change. Further testing of family members may be necessary in order to help determine whether the variant is the cause of the symptoms. Laboratories may offer complimentary testing of family members for this reason. You should talk to your doctor or genetic counselor to learn more about the particular variant found in your family. Many times a “variant” is also called a variant of uncertain significance (VUS).

Limb-girdle muscular dystrophy can be a life-threatening illness in severe cases. Many times when someone in the family is diagnosed with a condition like, many family members can be upset, angry, confused, and many more. Having to go through doctor’s visits, potentially genetic counseling and genetic testing, treatments, plus many more appointments can be very stressful and increase anxiety for the family. Your doctor and/or genetic counseling can help you identify resources available in order to meet your family’s specific needs during this time.

In the vast majority cases when a child is diagnosed with limb-girdle muscular dystrophy it affects the entire family not just the parents and the child with the condition. Some family members experience sadness, anger, withdrawal, and many other emotions. When coping with a genetic condition in the family it is important to encourage the open expression of thoughts and feelings. It is possible that siblings may be neglected because they feel their parents are focusing on the child with the condition. Siblings and extended family are more than welcome to attend various support groups.

Limb-girdle muscular dystrophies (LGMD) affect the muscles in the hips, abdomen, and shoulders causing them to lose strength and progressively weaken. The increasing weakness usually worsens over time and can cause problems walking, lifting arms, and getting up from sitting. With some forms of LGMD, these muscles can weaken to the point that a wheelchair or other assistive devices are necessary for mobility. Some types of LGMD can also involve the heart (cardiac) and ability to breathe (respiratory muscles). The symptoms and severity of LGMD can vary from person to person even within the same family.

Different types of LGMD may get worse or progress faster or slower, so identifying the specific cause through genetic testing may be helpful to get an idea of what to expect. Some types progress quickly, causing serious problems moving over the course of a few years, while others may progress very slowly and cause minimal problems.

Voluntary muscles are the muscles that we control to move our bodies. We also have involuntary muscles that we don’t consciously control such as the muscles in our digestive system and blood vessels. LGMDs generally don’t affect these involuntary muscles, with the exception of the heart which can be affected in some types.

The onset of LGMD can occur during childhood, teenage years, or adulthood. The health problems and severity of the condition can vary from person to person. For example, some individuals with LGMD have very mild symptoms that do not affect lifespan. However, others have severe symptoms that cause them to pass away early.

Intelligence is normal in people affected with LGMDs, as are the senses. Both genders are affected equally.

More information on each of the LGMDs can be found at MDA LGMD page
There is a very good summary about LGMD written for healthcare professionals at GeneReviews page for LGMD.

To find a medical professional nearby who can discuss information and testing, A listing of medical geneticists can be found at the [link url=" https://www.acmg.net/ACMG/Find_a_Member/ACMG/ISGweb/Find_a_Member_2.aspx?hkey=3b44e43a-bfa1-41b0-baab-f22f45245040 ” target=”_blank”> American College of Medical Geneticists website and genetic counselors can be found on the [link url=" http://nsgc.org/p/cm/ld/fid=164″ target=”_blank”>National Society of Genetic Counselors website.

If someone has two mutations in the SGCB gene, the vast majority will have the features of limb-girdle muscular dystrophy type 2E. However, the signs and symptoms can vary in the condition. It is possible that individuals will be affected differently. Some will be more severely affected than others. Even within the same family it is possible that individuals will not have the same symptoms or clinical severity.

If someone has two mutations in the SGCA gene, the vast majority will have the features of limb-girdle muscular dystrophy type 2D. However, the signs and symptoms can vary in the condition. It is possible that individuals will be affected differently. Some will be more severely affected than others. Even within the same family it is possible that individuals will not have the same symptoms or clinical severity.

If someone inherits only one mutation in one copy of the SGCB gene, they will not have the signs or symptoms of limb-girdle muscular dystrophy type 2E. However, they may be at increased risk to have a child with the condition if their partner is also a carrier of one mutation in one copy of the SGCB gene.

If someone inherits only one mutation in one copy of the SGCA gene, they will not have the signs or symptoms of co limb-girdle muscular dystrophy type 2D. However, they may be at increased risk to have a child with the condition if their partner is also a carrier of one mutation in one copy of the SGCA gene.

Limb-girdle muscular dystrophy is an extremely rare condition and the carrier frequency across all ethnicities are unknown. It is not currently thought that this condition is more common in certain ethnicities.

There are many great resources out there for you to read about the psychological and social issues related to limb-girdle muscular dystrophy. Here are a few:

There are several options available before birth to diagnosis limb-girdle muscular dystrophy (LGMD). All of these options require that the specific genetic mutation(s) causing LGMD in the family must be identified in order to make sure the tests are looking for the LGMD causing mutation in the correct gene. Prenatal diagnosis allows the family to know whether the pregnancy is affected with a certain condition or not. It involves testing the fetus during the pregnancy and looking for the mutation already identified in the family. There are two main ways to do this. The first is called chorionic villus sampling and the second is called amniocentesis. Chorionic villus sampling (CVS) is typically done between 10 to 13 weeks (2nd to 3rd month) of pregnancy. CVS is performed using the help of ultrasound in order to find where the baby and the placenta are located. It usually can be done either “transabdominally” or “transcervically”. Transabdominally means that the doctor will insert a needle into the woman’s abdomen and take a small sample of the chorionic villi. Chorionic villi are a part of the placenta and usually shares the same genetic information as the baby. If it is done transcervically, the doctor will insert a catheter into the cervix and take a sample of the chorionic villi.

An amniocentesis is typically done around 16-20 weeks (4-5 months) of pregnancy. Amniocentesis is performed using the help of ultrasound in order to find where the baby and the placenta are located. The doctor will insert a needle into the woman’s abdomen and take a small sample of the amniotic fluid around the baby. The amniotic fluid has cells from the baby floating in it that are then tested for the family specific genetic changes causing LGMD.

To find a genetic counselor near you who can discuss prenatal testing, visit the National Society of Genetic Counselors Find a Genetic Counselor website.

Limb-girdle muscular dystrophy type 2D is a genetic condition that affects the muscles in the hips, abdomen, and shoulder. In this condition the muscles in these areas progressively weaken. The symptoms and severity of this condition can vary from person to person. For example, some individuals with this condition have very mild symptoms that do not affect lifespan. However, unfortunately some have severe symptoms that cause them to pass away in their 20s. It does not affect intelligence or mental ability.

Individuals with limb-girdle muscular dystrophy type 2D begin to show symptoms by the age of 10. But they can also not begin until adulthood. It appears that the later the symptoms appear, the less severe they are. It is possible that the muscles weaken so much that it is necessary for the individual to use a wheelchair.

In the minority of cases (about 20% of the time) it is possible that the heart muscles can also become weak. Compared to other types of limb-girdle muscular dystrophy, type 2D specifically is less likely to have weakening of the heart muscles.

Limb-girdle muscular dystrophy type 2E is a genetic condition that affects the muscles in the hips, abdomen, and shoulder. In this condition the muscles in these areas progressively weaken. The symptoms and severity of this condition can vary from person to person. For example, some
individuals with this condition have a severe form of the disorder that can be fatal in the late teens. However, some have mild symptoms or remain asymptomatic throughout life. In general, most individuals with this condition live into their 30s.

In people who have limb-girdle muscular dystrophy type 2E, the bone at connects the arm with the collar bone (called the scapula) does not work the way it should. This causes a wing-like shape to the upper back. Additionally, the calf muscles are bigger than expected (calf hypertrophy).

Individuals with limb-girdle muscular dystrophy type 2E begin to show symptoms before the age of 10. But they can also not begin until adulthood. It appears that the later the symptoms appear, the less severe they are. It is likely that the muscles weaken so much that it is necessary for the individual to use a wheelchair. This usually happens between the ages of 10 and 15.

In the minority of cases (about 20% of the time) it is possible that the heart muscles can also become weak. Compared to other types of limb-girdle muscular dystrophy, type 2E specifically is less likely to have weakening of the heart muscles.

Rare Diseases Europe (http://www.eurordis.org/living-with-a-rare-disease) offers stories from people with all types of rare genetic conditions. You can browse through the stories with pictures of the individuals who wrote them.

If your partner is known to be a carrier of a mutation in a LGMD type 2 gene, you should talk to your doctor or genetic counselor about the next steps. Most likely, they will recommend full gene sequencing of the same gene in you, to look for any mutations in the entire gene. This testing is >99% accurate at determining whether you are a carrier of a mutation in the associated gene.

If you have a doctor’s appointment coming up about limb-girdle muscular dystrophy, there are many questions that you can ask. You should write down any questions you would like to ask so that you don’t stress about remembering them. Some ideas for questions are:

If your child underwent testing for limb-girdle muscular dystrophy and was found to have a variant of uncertain significance, it is most likely that the doctor and genetic counselor will want to do more testing, such as testing of the parents. This is done to try to get as much information as possible in order to have a better idea of whether the VUS is a mutation or benign. In order for a child to have limb-girdle muscular dystrophy type 2, they must have two mutations, one in each copy in the associated gene. If one known mutation and one VUS is found, it is suspicious that the VUS may be a mutation. However, this is not certain. That is why more testing may be done to follow-up. The next steps are highly dependent on your family history and the results from the genetic testing. The genetic counselor will be able to explain what the next steps are if a VUS is found.

Unfortunately treatment for limb-girdle muscular dystrophy is based on symptoms. There is no cure for the condition. Treatment involves therapies and other interventions to help allow for the most mobility possible.

If you have confirmed that your child has limb-girdle muscular dystrophy (LGMD) it means you and your partner are carriers of that condition. There is a 25% chance with each pregnancy to have another child with the same condition. If you are interested in learning about whether a future pregnancy is affected with the condition or if you would like to prevent a future pregnancy to be affected by LGMD, there are several options available. These options can be discussed with a prenatal genetic counselor, and ideally should be discussed before becoming pregnant.

To find a genetic counselor near you who can discuss prenatal testing, visit the National Society of Genetic Counselors Find a Genetic Counselor website.

Limb-girdle muscular dystrophy type 2D is a variable condition. All individuals that are born with two mutations in the SGCA gene will get the condition. However, it is possible that individuals will be affected differently. Some will be more severely affected than others. Even within the same family it is possible that individuals will not have the same symptoms or clinical severity.

Limb-girdle muscular dystrophy type 2E is a variable condition. All individuals that are born with two mutations in the SGCB gene will get the condition. However, it is possible that individuals will be affected differently. Some will be more severely affected than others. Even within the same family it is possible that individuals will not have the same symptoms or clinical severity.

Unfortunately, there is no cure for limb-girdle muscular dystrophy, and treatments focus on the treatment of specific symptoms. Physical therapy is recommended in order to keep as much muscle strength as possible for the longest amount of time possible. Occupational therapy can help individuals adapt to their muscle weakness, and help them find ways to continue to do what is important to them. This may require the use of assistive devices. The heart and breathing are often monitored. A cardiologist will follow any heart issues with treatments based on symptoms. A ventilator can be used if breathing muscles deteriorate in order to help breathing continue as normally as possible.

Some forms of LGMD may benefit from use of specific medications such as steroids, but other forms are worsened by them.

One condition, called Pompe disease, that has LGMD symptoms, but is not formally a LGMD has an enzyme replacement therapy.

In order to learn more about therapy and treatments for a specific kind of LGMD, speak to your doctor and reach out to support groups specializing in muscular dystrophy.

To find a medical professional nearby who can discuss information and treatment for LGMD, A listing of medical geneticists can be found at the [link url=" https://www.acmg.net/ACMG/Find_a_Member/ACMG/ISGweb/Find_a_Member_2.aspx?hkey=3b44e43a-bfa1-41b0-baab-f22f45245040 ” target=”_blank”> American College of Medical Geneticists website and genetic counselors can be found on the [link url=" http://nsgc.org/p/cm/ld/fid=164″ target=”_blank”>National Society of Genetic Counselors website.

One of the most unusual signs of limb-girdle muscular dystrophy (LGMD) is the increasing problems getting out of chairs or off the toilet. People living with LGMD may also have problems getting off the floor. If this sign is seen, it is important to discuss it with a healthcare provider. To find a medical professional nearby who can discuss information and testing, A listing of medical geneticists can be found at the [link url=" https://www.acmg.net/ACMG/Find_a_Member/ACMG/ISGweb/Find_a_Member_2.aspx?hkey=3b44e43a-bfa1-41b0-baab-f22f45245040 ” target=”_blank”> American College of Medical Geneticists website and genetic counselors can be found on the [link url=" http://nsgc.org/p/cm/ld/fid=164″ target=”_blank”>National Society of Genetic Counselors website.

Limb-girdle muscular dystrophies are not conditions that are tested for on the newborn screen. However, if it is suspected at birth, testing infants is reasonable. Many laboratories offer testing for limb-girdle muscular dystrophies. Speak to your doctor or genetic counselor to learn more about your options for genetic testing.

Genetic testing for limb-girdle muscular dystrophies is available through several different laboratories. There are options available to test for one specific gene at a time, if one particular subtype is strongly suspected, or if the subtype in your family is already known. There is also the option of doing a panel test of several genes known to cause limb-girdle muscular dystrophies, in order to find the one at fault.

There is currently research going into knowing more about limb-girdle muscular dystrophies. These research studies and clinical trials are all trying to learn more about how to better treat and take care of patients with the condition. Many of these research projects are looking at muscular dystrophies overall. These research projects hope to learn more about the symptoms and characteristics of the disorder and how to treat it. Talk to your doctor to learn more about the research opportunities available, or search limb-girdle muscular dystrophy at clinical.trials.gov.

After both of these procedures your doctor will tell you to take it easy for the rest of the day. There is a small risk of miscarriage with both procedures since they are invasive. This can range from 1 in 300 to 1 in 500 depending on the procedure and the doctor performing the procedure. To find a genetic counselor near you who can discuss prenatal testing, visit the National Society of Genetic Counselors Find a Genetic Counselor website.

In 2016, the testing options for limb-girdle muscular dystrophy (LGMD) after a pregnancy has begun involve invasive testing like a chorionic villus sampling or amniocentesis. Scientists are learning more about ways to detect diseases from the mother’s blood, but it is not yet possible to test for LGMDs in this way. To find a genetic counselor near you who can discuss prenatal testing, visit the National Society of Genetic Counselors Find a Genetic Counselor website.

SGCB is the only name for this gene as of January 20, 2016.

SGCA is the most common name for this gene. However, there are other names for it. For example, it is also known as 50DAG, ADL, adhalin, DAG2, DMDA2, and others.

Dominant and recessive limb-girdle muscular dystrophies affect both males and females equally.

There are variations in the prevalence of LGMDs in different populations around the world. However, the exact carrier frequencies are not known. For example: both limb-girdle muscular dystrophy type 2D and limb-girdle muscular dystrophy type 2E can be seen worldwide but are most common in Europe, the United States, and Brazil. LGMD2L makes up about 25% of the type 2 LGMD in the UK.

Limb-girdle muscular dystrophy (LGMD) refers to a group of genetic conditions. This means that it is caused by a mutation (change) in a gene. A gene is an instruction to our bodies on how to function and develop. Each subtype of LGMD is caused by a change is a different gene. When there is a mutation in a gene, it cannot do its job as well. This causes someone to have the condition.

Limb-girdle muscular dystrophies are divided into two categories depending on how they are inherited.
LGMD type 1 shows dominant inheritance. This means that one faulty copy of a gene, inherited from one parent, is enough to cause the condition.
LGMD type 2 show recessive inheritance. This means that two faulty copies of a gene must be inherited in order to develop the condition, one copy from each parent.
There are many specific subtypes within type 1 and type 2 LGMD.

Since symptoms occur during at birth and during childhood, it is reasonable to test children for this condition if it is suspected. If the child has no symptoms, it is possible that the condition could develop later on in life due to the variation in ages of onset spanning from childhood to adulthood.

If there is a family history or another suspicion for a particular type of limb-girdle muscular dystrophy your doctor or genetic counselor will likely recommend having full gene sequencing of the associated gene. This means that instead of looking for specific mutations, the lab will look at the entire gene to see if there are any changes. These changes would be the mutations that cause the condition. This testing can tell you whether you have any mutations in the gene, not only the most common mutations that may be included in a carrier screening panel.

Your doctor should know about the symptoms and characteristics of limb-girdle muscular dystrophy type 2E. For example, he/she should know that limb-girdle muscular dystrophy type 2E is a genetic condition that affects the muscles in the hips, abdomen, and shoulder. The muscles in these areas progressively weaken. The symptoms and severity of this condition can vary from person to person. For example, some individuals with this condition have very mild symptoms that do not affect lifespan. However, unfortunately some have severe symptoms that cause them to pass away in their 20s. In general, most individuals with this condition live into their 30s. Additionally, limb-girdle muscular dystrophy type 2E does not affect intelligence or mental ability.

Individuals with limb-girdle muscular dystrophy type 2E begin to show symptoms by the age of 10. But they can also not begin until adulthood. It appears that the later the symptoms appear, the less severe they are. It is possible that the muscles weaken so much that it is necessary for the individual to use a wheelchair.

In the minority of cases (about 20% of the time) it is possible that the heart muscles can also become weak. Compared to other types of limb-girdle muscular dystrophy, type 2E specifically is less likely to have weakening of the heart muscles.

Your doctor should know about the symptoms and characteristics of limb-girdle muscular dystrophy type 2D. For example, he/she should know that limb-girdle muscular dystrophy type 2D is a genetic condition that affects the muscles in the hips, abdomen, and shoulder. The muscles in these areas progressively weaken. The symptoms and severity of this condition can vary from person to person. For example, some individuals with this condition have very mild symptoms that do not affect lifespan. However, unfortunately some have severe symptoms that cause them to pass away in their 20s. It does not affect intelligence or mental ability.

Individuals with limb-girdle muscular dystrophy type 2D begin to show symptoms by the age of 10. But they can also not begin until adulthood. It appears that the later the symptoms appear, the less severe they are. It is possible that the muscles weaken so much that it is necessary for the individual to use a wheelchair.

In the minority of cases (about 20% of the time) it is possible that the heart muscles can also become weak. Compared to other types of limb-girdle muscular dystrophy, type 2D specifically is less likely to have weakening of the heart muscles.

Genetic counselors are experts in both genetics as well as the psychosocial implications of having a genetic condition. The genetic counselor will sit down with you and your family and go through the family history, discuss the diagnosis of limb-girdle muscular dystrophy, and help you work through what the diagnosis means for your family. Genetic counselors can help you talk with other family members about the diagnosis. Genetic counselors can also help you identify support resources available to you, and possibly even connect you with other families who are experiencing the same diagnosis. To find a genetic counselor in your area you can go to NSGC.org and “Find a Genetic Counselor”: http://nsgc.org/p/cm/ld/fid=175.

The term “heterozygous” in limb-girdle muscular dystrophy describes someone who is a carrier of one mutation in one gene, and has a normal copy of the gene. In type 2, someone who is a carrier of one mutation in one copy of the associated gene would be called a heterozygous carrier of LGMD2, and would be unaffected. In type 1, someone who is heterozygous would be affected by LGMD1. “Homozygous” means the individual has a mutation in both copies of the gene. Homozygous individuals have the same exact mutation in both copies. “Compound heterozygous” means the individual has two mutations, one mutation in each copy of the associated gene, however, these mutations are not the exact same mutation. Individuals with limb-girdle muscular dystrophy type 2 must either be compound heterozygous or homozygous for a mutation in the associated gene.

If you have a child with limb-girdle muscular dystrophy type 2, there is a chance that you could have another child with the condition. In an autosomal recessive condition, there is a 25% (1 in 4) chance with each pregnancy for a child to be born with the condition.

If you have a child with limb-girdle muscular dystrophy type 1, there is a chance that you could have another child with the condition. In an autosomal dominant condition, where one parent is affected, there is a 50% (1 in 2) chance with each pregnancy for a child to be born with the condition.

Screening tests are not perfect. Many screening tests for limb-girdle muscular dystrophy only test for the most common mutations. That means there is still a risk that you carry a mutation which was not tested for. If you have a family history of this condition, or if there is any reason you suspect you may be a carrier, you should speak to your doctor or genetic counselor about further testing.

If you previously had a child with limb-girdle muscular dystrophy type 2 that means you are known as a carrier for that condition. A carrier for a condition means that you have one mutation in one copy of the gene causing the type 2 limb-girdle muscular dystrophy. Carriers of these types of conditions do not typically show signs or symptoms of that condition. However, parents are at risk (25% or 1 in 4) to have another child with the condition.

Several studies throughout the world have estimated the frequency of LGMDs. Different populations often have different frequencies of the various LGMDs. The overall frequency of all LGMDs has been estimated to be 5-70 people per 1 million in several countries. This is approximately 1 in 14,286 to 1 in 200,000. Some have estimated a slightly smaller prevalence range from 1 in 14,500 to 1 in 123,000 people. LGMD2B is thought to account for 3-19% of all LGMDs. In many studies LGMD2A is the most common (accounting for 8-26% of all LGMDs).

Limb-girdle muscular dystrophy type 1 (LGMD1)
Limb-girdle muscular dystrophy type 1 (LGMD1) is inherited in an autosomal dominant manner. We all inherit two copies of each of our genes from our parents. One copy comes from mom and one comes from dad. An autosomal dominant condition means that one altered copy of the associated gene is enough to cause the symptoms of the condition. People with LGMD type 1 have one normal copy of the associated gene and one altered copy. An alteration in a gene can also be called a mutation. If a parent has LGMD1, each of their children has a 50% chance of inheriting it.

Limb-girdle muscular dystrophy type 2 (LGMD2)
Limb-girdle muscular dystrophy type 2 (LGMD2) is inherited in an autosomal recessive manner. We all inherit two copies of each of our genes from our parents. One copy comes from mom and one comes from dad. An autosomal recessive condition means that a person must have a mutation in both copies of the associated gene in order to show symptoms of the condition.

The parents of an individual with LGMD2 are said to be carriers of the condition. This means that they have one copy of the genetic change associated with the condition. They will not have symptoms of the condition. Each sibling of a person with LGMD2 will have a 25% chance of also inheriting the condition, providing that they have the same two parents. Individuals who are affected with LGMD2 are unlikely to have children who are affected with the condition. This would only be possible if their spouse happened to also be a carrier of the same subtype of LGMD2. While this situation is rare by chance alone, if you are a blood relative of your spouse (for example a cousin or second cousin) the odds that you may both carry changes (mutations) in the same gene is much higher.

It is important to know that we cannot control which genes a child inherits. We also cannot control the occurrence of new changes (mutations) that occur in our egg cells, sperm cells, or in the early cells of a baby. These changes occur at random. LGMD types 1 and 2 are not caused by the action or inaction of anyone.

If you are concerned about the risk of having a child with LGMD and the options available, you may wish to speak to a certified genetic counselor, who can answer your questions and tailor the information to your specific situation. A list of genetic counselors is available on the National Society of Genetic Counselors website as well as on the Canadian Association of Genetic Counsellors website.

In many cases, limb-girdle muscular dystrophies can be diagnosed by genetic testing. However, your doctor or geneticist (doctor specializing in genetics) will likely do a workup and physical exam to make sure there are no other additional complications they should be looking out for. This involves the geneticist doing a physical exam to look for any additional physical features or abnormalities. This is done because depending what they find, there may be additional recommendations or specialists they will refer you to for the best care possible. The genetic counselor will help you understand the genetic testing available.

To find a medical professional nearby who can discuss information and testing, A listing of medical geneticists can be found at the [link url=" https://www.acmg.net/ACMG/Find_a_Member/ACMG/ISGweb/Find_a_Member_2.aspx?hkey=3b44e43a-bfa1-41b0-baab-f22f45245040 ” target=”_blank”> American College of Medical Geneticists website and genetic counselors can be found on the [link url=" http://nsgc.org/p/cm/ld/fid=164″ target=”_blank”>National Society of Genetic Counselors website.

Starting a support group for limb-girdle muscular dystrophy is a great idea and a great help to families and individuals experiencing the same issues and symptoms of the condition. If you are interested in starting a support group of your own, a good place to start is by speaking to the support groups and organizations already founded. They likely can provide information about people near you that are interested in creating a support group.

One of the best ways to help continue research in limb-girdle muscular dystrophy is to donate to various foundations. Orpha.net has an extensive list of patient organizations that accept volunteer work and donations. Here are a list of some organizations:

Genetic testing for limb-girdle muscular dystrophy (LGMD) can be ordered by your doctor or genetic counselor. There are many laboratories that offer genetic testing for these conditions. It involves either a blood or saliva sample. Results taken about 4-6 weeks depending on the laboratory.

In 2016, there is a free testing program sponsored by a group of nonprofits that tests people who qualify for many of the types of LGMD. To learn more about the program, speak with your doctor and/or look at the LGMD testing website.

To find a medical professional nearby who can discuss information and testing, A listing of medical geneticists can be found at the [link url=" https://www.acmg.net/ACMG/Find_a_Member/ACMG/ISGweb/Find_a_Member_2.aspx?hkey=3b44e43a-bfa1-41b0-baab-f22f45245040 ” target=”_blank”> American College of Medical Geneticists website and genetic counselors can be found on the [link url=" http://nsgc.org/p/cm/ld/fid=164″ target=”_blank”>National Society of Genetic Counselors website.

You can find information on specialist in limb-girdle muscular dystrophy type 2D through the Genetic and Rare Diseases Information Center (GARD). This is a National Institutes of Health ran center that offers information on specialists for many rare diseases. They breakdown the providers into genetics clinics, specialty treatment center, or researchers in limb-girdle muscular dystrophy type 2D.

Please see GARD: Genetic and Rare Diseases Information Center. How to Find a Disease Specialist. https://rarediseases.info.nih.gov/gard/pages/25/how-to-find-a-disease-specialist

To find a center of excellence in limb-girdle muscular dystrophy, search the Muscular Dystrophy Association’s listing of MDA care centers. You can also go to the National Organization for Rare Disorders’ website (http://rarediseases.org/for-clinicians-and-researchers/resources/rare-disease-information/) which provides information on centers of excellence for many rare conditions. Additionally, Orpha.net (http://www.orpha.net/consor/cgi-bin/Clinics_Search_Simple.php?lng=EN&LnkId=678&Typ=Pat&CnsGen=n&fdp=y&from=rightMenu) lists centres of expertise worldwide to find doctors and specialists who are experts in the condition.

Because a muscle biopsy is more invasive than a saliva or blood sample, it is usually not recommended for the purpose of genetic testing. There are no differences no the accuracy of the genetic testing if blood or saliva is used. Many laboratories offer both blood or saliva for testing. The testing is completed in the exact same way for both blood and saliva.

There is nothing that can be done to cause or prevent limb-girdle muscular dystrophy type 2E. It is a variable condition, so it is difficult to anticipate how an individual with the condition will be affected. Limb-girdle muscular dystrophy type 2E affects the muscles in the hips, abdomen, and shoulder. In this condition the muscles in these areas progressively weaken. The symptoms and severity of this condition can vary from person to person. For example, some individuals with this condition have a severe form of the disorder that can be fatal in the late teens. However, some have mild symptoms or remain asymptomatic throughout life. In people who have limb-girdle muscular dystrophy type 2E, the muscles around the shoulderbone (also called scapula) do not work the way they should. This causes a wing-like shape to the upper back. Additionally, the calf muscles are bigger than expected (calf hypertrophy).

Individuals with limb-girdle muscular dystrophy type 2E often begin to show symptoms before the age of 10. Others do not show symptoms until adulthood. Some doctors have noticed that the later the symptoms appear, the less severe they are likely to be. In LGMD2E it is likely that the muscles will weaken so much that it is necessary for the individual to use a wheelchair. This usually happens between the ages of 10 and 15.

In the minority of cases (about 20% of the time) it is possible that the heart muscles can also become weak. Compared to other types of limb-girdle muscular dystrophy, type 2E specifically is less likely to have weakening of the heart muscles.

Many support groups for families and patients with limb-girdle muscular dystrophy recommend that parents need to give their children information about their diagnosis. This should be in terms that your child can understand. This includes answering questions as directly and truthfully as possible.

EI therapies for limb-girdle muscular dystrophy might include occupational therapy and physical therapy.

Amniocentesis and chorionic villus sampling are ways to identify whether or not the pregnancy is affected with a limb-girdle muscular dystrophy (LGMD) before the baby is born. Before either test can be done, the gene change(s) causing LGMD in the family needs to be know as the prenatal tests will look for the exact mutation(s) that are in the family. Then, it is important to know how far along in the pregnancy a woman is to know what tests are options.

Chorionic villus sampling (CVS) is typically done between 10 to 13 weeks (2nd to 3rd month) of pregnancy. CVS is performed using the help of ultrasound in order to find where the baby and the placenta are located. It usually can be done either “transabdominally” or “transcervically”. Transabdominally means that the doctor will insert a needle into the woman’s abdomen and take a small sample of the chorionic villi. Chorionic villi are a part of the placenta and usually shares the same genetic information as the baby. If it is done transcervically, the doctor will insert a catheter into the cervix and take a sample of the chorionic villi.

An amniocentesis is typically done around 16-20 weeks (4-5 months) of pregnancy. Amniocentesis is performed using the help of ultrasound in order to find where the baby and the placenta are located. The doctor will insert a needle into the woman’s abdomen and take a small sample of the amniotic fluid around the baby. The amniotic fluid has cells from the baby floating in it that are then tested for the family specific genetic changes causing LGMD.

To find a genetic counselor near you who can discuss prenatal testing, visit the National Society of Genetic Counselors Find a Genetic Counselor website.

Symptoms associated with limb-girdle muscular dystrophy (LGMD) most likely cannot be detected on prenatal ultrasound. Symptoms of this condition tend to appear after birth. Therefore, if your family is at risk to have a pregnancy affected with LGMD and your would like testing before birth, diagnostic testing is needed, as ultrasound is not able to detect the symptoms.

Currently the SGCB gene is the only gene known to cause limb-girdle muscular dystrophy type 2E.

Currently the SGCA gene is the only gene known to cause limb-girdle muscular dystrophy type 2D.

in 2016, there is a free testing program sponsored by a group of nonprofits and run by Emory Genetics Laboratory that tests people who qualify for many of the types of LGMD. To learn more about the program, speak with your doctor and/or look at the LGMD testing website.

To find a medical professional nearby who can discuss information and testing, A listing of medical geneticists can be found at the [link url=" https://www.acmg.net/ACMG/Find_a_Member/ACMG/ISGweb/Find_a_Member_2.aspx?hkey=3b44e43a-bfa1-41b0-baab-f22f45245040 ” target=”_blank”> American College of Medical Geneticists website and genetic counselors can be found on the [link url=" http://nsgc.org/p/cm/ld/fid=164″ target=”_blank”>National Society of Genetic Counselors website.

Some additional names for limb-girdle muscular dystrophies are listed below:

There are several support groups available for individuals with limb-girdle muscular dystrophy . Many are muscular dystrophy support groups.

There are many different types of limb-girdle muscular dystrophy and they can be named by number and letter or by their original "personal" name (usually of the doctor who first described them).
Limb-girdle muscular dystrophies are divided into two categories depending on how they are inherited.

LGMD type 1 shows dominant inheritance. This means that one faulty copy of a gene, inherited from one parent, is enough to cause the condition.

Here is a list of the type 1 LGMDs (dominant) along with the gene that is associated with that particular condition in brackets:

LGMD1A (myotilin mutation)
LGMD1B (lamin A/C mutation)
LGMD1C (caveolin 3 mutation)
LGMD1D (DNAJB6 mutation)
LGMD1E, also called desmin myopathy, a type of myofibrillar myopathy (desmin mutation)
LGMD1F (chromosome 7 mutation)
LGMD1G (chromosome 4 mutation)
LGMD1H (chromosome 3 mutation)
LGMD type 2 show recessive inheritance. This means that two faulty copies of a gene must be inherited in order to develop the condition, one copy from each parent. Here is a list of the type 2 LGMDs (recessive) along with the gene that is associated with that particular condition in brackets:

LGMD2A (calpain mutations)
LGMD2B (dysferlin mutations)
LGMD2C, also called SCARMD1 (gamma sarcoglycan mutations)
LGMD2D, also called SCARMD2 (alpha sarcoglycan mutations)
LGMD2E (beta sarcoglycan mutations)
LGMD2F (delta sarcoglycan mutations)
LGMD2G (telethonin mutations)
LGMD2H (TRIM32 mutations)
LGMD2I (FKRP mutations)
LGMD2J (titin mutations)
LGMD2K (POMT1 mutations)
LGMD2L (ANO5 mutations)
LGMD2M (fukutin mutations)
LGMD2N (POMT2 mutations)
LGMD2O (POMGnT1 mutations)
LGMD2Q (plectin mutations)

Many support organizations have resources designed for caregivers of people living muscular dystrophies like limb-girdle muscular dystrophy. Options include the Muscular Dystrophy Association and (Cerebra). If a caregiver caring for a person specifically with Limb Girdle Muscular Dystrophy 2B (LGMD2B) or Miyoshi Myopathy (MM),the Jain Foundation has excellent caregiver resources.

The majority of features of limb-girdle muscular dystrophy types 2D and 2E occur during childhood. There is nothing than can be done to cause the condition because we are all born with our genes and we cannot change them.

Individuals with only one mutation in SGCB are not at risk to have any signs or symptoms of limb-girdle muscular dystrophy type 2E. However, they are at increased risk to have a child with the condition. If the partner is also found to have one mutation in the SGCB gene, they are at a 25% risk with each pregnancy to have a child with the condition.

Individuals with only one mutation in SGCA are not at risk to have any signs or symptoms of limb-girdle muscular dystrophy type 2D. However, they are at increased risk to have a child with the condition. If the partner is also found to have one mutation in the SGCA gene, they are at a 25% risk with each pregnancy to have a child with the condition.

There are many disorders that have weakness of the proximal (closer to the body) muscles as well as muscle wasting (atrophy). Clinical severity, age of onset, and disease progression are highly variable between the conditions. Typically in all of these disorders, a protein in the body called creatine kinase is higher than expected when you look in the blood. Speak to your doctor if you think someone in your family has muscle weakness that is getting worse.

To find a medical professional nearby who can discuss information and testing, A listing of medical geneticists can be found at the [link url=" https://www.acmg.net/ACMG/Find_a_Member/ACMG/ISGweb/Find_a_Member_2.aspx?hkey=3b44e43a-bfa1-41b0-baab-f22f45245040 ” target=”_blank”> American College of Medical Geneticists website and genetic counselors can be found on the [link url=" http://nsgc.org/p/cm/ld/fid=164″ target=”_blank”>National Society of Genetic Counselors website.