Limb-Girdle Muscular Dystrophy Type 2I DNA Test

Are you a genetic carrier for limb-girdle muscular dystrophy type 2I? Find out with this DNA Test.

  • Detects an FKRP variant which causes limb-girdle muscular dystrophy type 2I
  • Carrier screening test intended for couples who are planning to become pregnant
  • Determine the risk of passing on this condition that affects muscle strength
  • 100% private and confidential online results

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Detailed Description

Limb-girdle muscular dystrophies are a group of inherited diseases characterized by weakness and atrophy (wasting) of the muscles, particularly the proximal muscles around the hips and shoulders.

Limb-girdle muscular dystrophy type 2I is the most common type of limb-girdle muscular dystrophy in people of European descent. It is caused by genetic variation in the FKRP gene, which affects the function of the fukutin-related protein involved in adding sugar molecules to certain proteins (glycosylation). 

Take this test to find out if you are a genetic carrier of an FKRP variant and are at risk of passing it to your children.

The Genetics

Limb-girdle muscular dystrophy type 2I is caused by genetic variation in the FKRP gene. This gene which provides instructions for the fukutin-related protein involved in adding sugar molecules to certain proteins (glycosylation). This glycosylation is essential for the proper functioning of the alpha-dystroglycan protein, which helps stabilize and protect muscle fibers.

Limb-girdle muscular dystrophy type 2I is inherited in an autosomal recessive pattern, which means two defective copies of the FKRP gene must be inherited in order for the disease to manifest. However, some people with two defective copies of the FKRP gene do not develop disease symptoms, suggesting that other genes may also be involved in disease manifestation.

Variant Tested

This test detects one variant in the FKRP gene which causes limb-girdle muscular dystrophy type 2I.

  • rs28937900 A (L276I)

This variant occurs in approximately 60% of the carriers of European descent.

Understanding your carrier status for this variant will help you understand the risk of passing it to your children.

Signs and Symptoms

The following signs and symptoms usually develop in late childhood or early adulthood:

  • Progressive muscle weakness, particularly the arm and leg muscles nearest the torso
  • Unusual gait
  • Heart problems
  • Lung problems
  • Spine and/or lower back curve
  • Changes in posture or in the appearance of shoulder, back, and arm muscles
  • Scapular winging
  • Joint stiffness
  • Reduced lifespan

    • How It Works

    Step 1: Sign up for a free DNA Access account.
    Step 2: Upload your DNA markers to DNA Access.
    Step 3: Log in to your account to access your results when they are ready.