Limb-girdle muscular dystrophy type 1B

What causes limb-girdle muscular dystrophy type 1B?

Limb-girdle muscular dystrophy type 1B is caused by mutations (changes) to the LMNA gene. The LMNA gene provides instructions to the body to make a protein that is responsible for providing stability and strength to the cells. Specifically, LMNA provides instructions to make a protein that is located in the nuclear envelope, which surrounds the nucleus. The proteins of the nuclear envelope help move molecules in and out of the nucleus. When there are changes to the LMNA gene, this protein is not made correctly. It is not clear exactly why changes in this gene cause the signs and symptoms associated with LGMD1B, but it is thought that the protein created by the LMNA gene may be important for controlling the expression of other genes.

Last updated on 05-01-20

How is limb-girdle muscular dystrophy type 1B diagnosed?

Limb-girdle muscular dystrophy type 1B (LGMD1B) is typically suspected when a person has signs or symptoms consistent with the disease. The doctor may wish to take a thorough personal and family history and to run some laboratory tests. These tests may include:

In some cases, genetic testing of genes associated with muscular dystrophies may be ordered to confirm the diagnosis.

Last updated on 05-01-20

How is limb-girdle muscular dystrophy type 1B inherited?

Limb-girdle muscular dystrophy type 1B (LGMD1B) is inherited in an autosomal dominant manner. This means that only one copy of the LMNA __gene has a change (mutation) in people who are affected with the disease. We inherit one copy of each gene from our mother and one from our father. If a person with LGMD1B goes on to have children, for each child there is a 50% chance that he or she will have LGMD1B as well.

Some people with LGMD1B do not have a family history of the disease. This could happen for a couple of reasons. First, it could be that there are other family members with the disease, but they do not know it because they have never been diagnosed. The symptoms of LGMD1B exhibit variable expressivity. This means that people with the disease can have many different signs and symptoms, even within the same family. For example, some people with LGMD1B may have heart problems but no other signs of muscle weakness. Therefore, it can sometimes be difficult to see a history of LGMD1B in the family of an affected individual.

In some cases, the reason that there is no family history of LGMD1B is because the affected individual is the first person in the family to have a genetic change in LMNA. In these cases, the genetic change is de novo. _This means the genetic change happened for the first time in the family in the person who has symptoms of the disease, and other family members do not have LGMD1B. However, the affected individual still has a 50% chance to pass on the genetic change in _LMNA to each of his or her children.

Last updated on 05-01-20

What is the long-term outlook for people affected by limb-girdle muscular dystrophy type 1B?

The long-term outlook for people affected by limb-girdle muscular dystrophy type 1B depends on the signs and symptoms present in each person. In general, LGMD1B is a progressive disease, meaning the muscle weakness can continue to worsen. If the heart problems associated with the disease are not monitored and treated, people with LGMD1B are at risk to have a sudden heart problem that can cause death. Some people with LGMD1B have successfully received heart transplants.

Last updated on 05-01-20

How might limb-girdle muscular dystrophy type 1B be treated?

Unfortunately, there is no cure for limb-girdle muscular dystrophy type 1B (LGMD1B). Treatment options that may be recommended for people with LGMD1B may include:

In some cases, a pacemaker may be necessary to treat heart problems associated with LGMD1B. It is recommended that people with LGMD1B be provided with social and emotional support to cope with the diagnosis. Other specialists that may be recommended include a neurologist, cardiologist, occupational therapist, nutritionist, and genetic counselor.

Last updated on 05-01-20

Name: Muscular Dystrophy Family Foundation P.O. Box 776
Carmel, IN, 46082, United States
Phone: +1-317-615-9140 Email: info@mdff.org Url: https://mdff.org/ MDFF provides financial assistance, quality programs and services for the Muscular Dystrophy community in Indiana.
Name: Cure CMD - Congenital Muscular Dystrophy 19401 S. Vermont Ave., Suite J100
Torrance, CA, 90502, United States
Phone: 323-250-2399 or 424-265-0874 Email: info@curecmd.org Url: https://www.curecmd.org/
Name: Muscular Dystrophy Association MDA 222 S Riverside Plaza Suite 1500
Chicago, IL, 60606, United States
Toll Free: 1-833-275-6321 (Helpline) Email: resourcecenter@mdausa.org Url: https://www.mda.org
Name: Muscular Dystrophy UK 61A Great Suffolk Street
London, SE1 0BU, United Kingdom
Phone: (+44) 0 020 7803 4800 Toll Free: 0800 652 6352 (Helpline) Email: info@musculardystrophyuk.org Url: https://www.musculardystrophyuk.org/
Name: Living with Limb-Girdle Muscular Dystrophy Url: https://www.facebook.com/groups/Living.with.LGMD/

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