What Your Test Results Mean:

Carriers typically show no symptoms of LGMD2E; however, carriers are at an increased risk of having a child with LGMD2E. 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 for more detailed risk assessment.

Disease Explained:

LGMD2E 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. LGMD2E is a progressive disease, and muscles will continue to waste, often leading the patient to require a wheelchair. In addition, patients may experience a weakening of the heart muscle, so individuals with LGMD2E should be monitored for cardiac function. There is no cure for this disorder, but physical therapy can help individuals retain their mobility for as long as possible. LGMD2E does not affect intelligence or mental function.

How the Genetics Works:

LGMD2E is an autosomal recessive muscle disorder caused by pathogenic variants in the SGCB gene. In general, individuals have two copies of the SGCB gene. Carriers of LGMD2E have a single variant in one copy of the SGCB gene while individuals with LGMD2E have variants in both copies of their genes, one inherited from each parent.