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.
Other Questions About Limb-girdle muscular dystrophy
- Will there be time for me to ask questions during my genetics clinic visit for limb-girdle muscular dystrophy?
- Who else in my family should test for limb-girdle muscular dystrophy?
- Where is LGMD2A most prevalent and what nationalities are most affected?
- Where do I find other people with limb-girdle muscular dystrophy?
- Where do I find clinical research in limb-girdle muscular dystrophy?
