What Your Test Results Mean:

Carriers typically show no symptoms of LGMD2D; however, carriers are at an increased risk of having a child with LGMD2D. Risk for the current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor.

Disease Explained:

LGMD2D is an inherited condition that causes deterioration of the skeletal muscles, especially those around the hips and shoulders. Most of the time this disease is diagnosed in childhood, when the affected individual begins to have trouble with tasks like walking, climbing the stairs, and rising from a sitting position. However, mild cases may not be manifest until adulthood. LGMD2D is a progressive disease, and muscles will continue to waste, often leading the patient to require a wheelchair. There is no cure for this disorder, but physical therapy can help an individual retain their mobility for as long as possible. LGMD2D does not affect intelligence or mental function and rarely includes weakening of the heart muscle (cardiomyopathy).

How the Genetics Works:

LGMD2D is an autosomal recessive muscle disorder caused by pathogenic variants in the SGCA gene. In general, individuals have two copies of the SGCA gene. Carriers of LGMD2D have a single variant in one copy of the SGCA gene while individuals with LGMD2D have variants in both copies of their genes, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.