Limb-girdle muscular dystrophies are a group of inherited diseases that leads to weakness and atrophy (wasting) of the muscles. The bone structures that surround the shoulder area (shoulder girdle) and the bone structures that surround the hips (pelvic girdle) are collectively referred to as the limb girdles. Limb-girdle muscular dystrophy affects the proximal muscles (muscles closest to the center of the body) around the hips and shoulders.
Limb-girdle muscular dystrophy type 2I (LGMD2I) is the most common type of limb-girdle dystrophy in people of European descent. It is caused by genetic variation in the FKRP gene, which provides instructions to produce fukutin-related protein involved in adding sugar molecules to certain proteins (glycosylation). In affected people with genetic variants of FKRP many proteins are not properly glycosylated. Proper glycosylation is critical to the function of the alpha-dystroglycan protein, which helps stabilize and protect muscle fibers.
Take this test to find out whether you are a genetic carrier of the FKRP variant and are at risk of passing it to your children. This is intended to be a carrier screening test for couples who are considering to start a family.
Limb-girdle muscular dystrophy type 2I is caused by genetic variation in the FKRP gene, which provides instructions to produce fukutin-related protein involved in adding sugar molecules to certain proteins (glycosylation). In affected people proper protein glycosylation is disrupted giving rise to symptoms associated with LGMD2I.
This condition is inherited in an autosomal recessive pattern, which means two defective copies of the FKRP gene must be inherited by an affected individual. However, some people with two defective copies of the gene do no develop symptoms of the disease, suggesting that other genes may also be involved in disease manifestation.
This test looks at one variant of FKRP linked to limb-girdle muscular dystrophy type 2I that occurs approximately in 60% of the carriers of European descent.
- rs28937900 A (L276I)
Understanding your carrier status for these variants will help you understand the risk of passing it to your children.
While it provides a risk analysis for limb-girdle muscular dystrophy type 2I, complete genome sequence analyses may be necessary to identify additional variants associated with other subtypes of limb-girdle muscular dystrophy.
Following signs and symptoms usually develop in late childhood or early adulthood
- Progressive muscle weakness, particularly arm and leg muscles nearest the torso
- Heart problems
- Lung problems
- Spine curve
- Changes in posture or in the appearance of shoulder, back and arm muscles
- Scapular winging
- Abnormal curving in their lower back (lordosis)
- Joint stiffness
- Reduced lifespan
How It Works
Step 1: Sign up for a free Genebase account.
Step 2: Upload your DNA markers to Genebase.
Step 3: Login to your account to access your results when they are ready.