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 2E is the most common type of limb-girdle muscular dystrophy in people of Southern Indiana Amish descent. It is caused by genetic variation in the SGCB gene, which affects the formation and/or the function of the sarcoglycan complex.
Take this test to find out if you are a genetic carrier of an SGCB variant and are at risk of passing it to your children.
Limb-girdle muscular dystrophy type 2E is caused by genetic variation in the SGCB gene. This gene provides instructions for a component (subunit) of the sarcoglycan protein complex. In affected people, the production of the sarcoglycan protein complex is disrupted giving rise to the characteristic disease symptoms.
Limb-girdle muscular dystrophy type 2E is inherited in an autosomal recessive pattern, which means two defective copies of the SGCB gene must be inherited in order for the disease to manifest.
This test detects one variant in the SGCB gene which causes limb-girdle muscular dystrophy type 2E.
- rs28936383 C (T151R)
This variant occurs approximately in 99% of carriers of Amish descent.
Understanding your carrier status for this variant will help you understand the risk of passing it to your children.
The following signs and symptoms usually develop in affected infants and children:
- 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.