What is calpainopathy?
Calpainopathy, also known as limb-girdle muscular dystrophy type 2A (LGMD2A), is a genetic disorder characterized by muscle weakness and wasting, particularly in the shoulders, hips, and limbs.
What causes calpainopathy?
Calpainopathy is caused by mutations of the calpain 3 (CAPN3) gene. This disease is inherited in an autosomal recessive pattern, which means both copies of the gene (one from each parent) are mutated for an individual to show signs and symptoms of the condition.
What is this test for?
This test detects mutations in all protein-coding regions of the CAPN3 gene and partial flanking non-coding DNA sequences.
Who should consider this test?
Individuals affected with LGMD with family history of calpainopathy or as suggested by clinical findings.
Factor(s) known to affect results