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Genetic and Rare Diseases Information Center (GARD)

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Limb-girdle muscular dystrophy


Other Names for this Disease
  • LGMD- autosomal recessive
  • Limb girdle muscular dystrophy
  • Limb-girdle muscular dystrophy autosomal recessive
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Your Question

I was diagnosed with limb-girdle MD in 2011. I was wondering if this can make a person become diabetic. Also, should I have my two children tested for this? And what kind of testing should they have? My father had the same thing. My mother wishes she could have known a way to check me and my brother.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Are individuals with limb-girdle muscular dystrophy at increased risk for developing diabetes?

A search of the available medical literature does not yield information about individuals with limb-girdle muscular dystrophy (LGMD) being at increased risk for diabetes.

The only vague association we were able to find between LGMD and diabetes involves similarities in the types of genes that may be involved with each of these conditions.[1] A specific type of autosomal recessive LGMD (type 2A) is associated with mutations in a gene called CAPN3. This gene normally provides instructions for making an enzyme called calpain-3, which is found within muscle cells. Calpain enzymes are generally involved in breaking proteins in the body into shorter fragments, but the function of the calpain-3 enzyme is not well understood.[2] There has been evidence that susceptibility to type 2 diabetes mellitus may be associated with differences in the CNP10 gene, which provides instructions for making an enzyme called calpain-10. However, the ways in which differences in the CNP10 gene may increase a person's risk for type 2 diabetes mellitus are unclear.[1]. The findings that the two conditions may be associated with genes that encode enzymes within the same "family" (calpains) does not necessarily suggest an association between the conditions. To our knowledge, no direct or significant association between LGMD and diabetes has been studied or reported.
Last updated: 2/23/2012

How is limb-girdle muscular dystrophy inherited?

Limb-girdle muscular dystrophy (LGMD) is most often inherited in an autosomal recessive manner; less commonly, rare sub-types may be inherited in an autosomal dominant manner.  There may be difficulties diagnosing the condition accurately, and often the mode of inheritance cannot be determined. Therefore, it may be challenging to determine the exact recurrence risks for some families.

Establishing the type of LGMD in an affected individual can be useful for discussing the clinical course of the disease as well as for determining who else in the family may be at risk for the condition.[3]
Last updated: 2/23/2012

Can individuals who may be at risk for having inherited limb-girdle muscular dystrophy be tested for the condition?

An individual who is experiencing signs and symptoms of LGMD, or who is thought to be at a significant risk for developing the condition, may wish to undergo a formal evaluation by a specialist. This may involve looking at the medical and family history; a physical examination; and laboratory testing including serum creatine kinase (CK) concentration, muscle biopsy and protein testing. Genetic testing to determine if an individual is a carrier or if an individual has inherited the condition is only clinically available for some types of LGMD, and only once the disease-causing mutations have been identified in the affected individual in the family.[3] Using genetic testing to determine the specific type of LGMD in an individual can be challenging for several reasons. Many genes are involved in causing the different sub-types of LGMD; there is not a specific disease-causing gene responsible for the majority of cases. Furthermore, about half of cases of LGMD cannot be confirmed with genetic testing, even when all of the genes known to cause the condition are evaluated.[3]

Individuals who are seeking specific information about genetic testing for themselves or family members should consult with a genetics professional.

Last updated: 2/23/2012

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013

References