Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) (also called delta-sarcoglycanopathy) encompasses a range of disorders caused by a deficiency in delta-sarcoglycan, a crucial protein in the muscle system.
Symptoms vary widely, with some individuals experiencing mild or nearly asymptomatic conditions, while others face severe, potentially fatal symptoms. One form of this condition, Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F), typically manifests in childhood, leading to progressive weakness in the hip, shoulder, and abdomen muscles. This weakness can advance to the point of requiring a wheelchair, accompanied by features like enlarged calf muscles, shoulder blade winging, and scoliosis. Respiratory and heart complications, such as arrhythmia and cardiomyopathy, are common and can be life-threatening. Another manifestation, Dilated Cardiomyopathy Type 1L, primarily involves weakening of the heart muscle. There is no cure for delta-sarcoglycanopathy and few effective treatments.
This group of conditions is caused by pathogenic (disease-causing) variants in the SGCD gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
Muscular Dystrophy Association
Revised October 2023
