LGMD2i is an inherited disease caused by a mutation in the FKRP gene. Although the disease is primarily diagnosed in adolescents 10 – 20 years old, there are recorded cases of children diagnosed as young as two years old. Patients with LGMD2i experience slowly-progressing muscle weakness, variably affecting skeletal, respiratory and cardiac muscles. While every patient experience is different, muscle weakness typically begins in the shoulder and hip areas, resulting in the need for assistance with mobility.
The FKRP gene is involved in helping muscles build a “shock absorber,” and when mutated as in LGMD2i, the shock absorbing function is significantly reduced, leading to damage to muscle tissue, which can be replaced by scar-like, fibrotic tissue. As fibrotic tissue overtakes healthy muscle tissue, muscle function diminishes, and patients lose the ability to perform daily functions unassisted – such as walking or standing up.
Over time, muscle degeneration can become so excessive as to result in respiratory and cardiovascular issues, leading to respiratory or cardiac arrest and death. Currently, people with LGMD2i have no treatment options beyond steroid injections and other symptom and pain management techniques. The LGMD2i community has made exceptional strides to spread awareness of the unmet medical need, as well as to create a network connecting patients with physician experts in the field of neuromuscular diseases.