Limb-girdle muscular dystrophy type 2i
Limb-girdle muscular dystrophy (LGMD) is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area and thighs. The severity, age of onset, and features of LGMD vary among the many subtypes of the condition and are often inconsistent, even within the same family.
Limb-girdle muscular dystrophy type 2i (LGMD2i) is caused by mutations in the FKRP gene. Currently, there is no cure, and treatment is based on the signs and symptoms present in each individual. In LGMD2i, specifically, signs and symptoms often develop in late childhood and may include difficulty running and walking. The symptoms gradually worsen over time, and affected people generally rely on a wheelchair for mobility approximately two years after onset.
Visit the National Institutes of Health Medline Plus website to learn more about Limb-Girdle Muscular Dystrophy.
Limb-Girdle Advocacy Partners
We are fortunate to work with patient advocacy groups, as well as leading researchers, scientists and medical professionals to bring new therapeutics for LGMD and other forms of muscular dystrophy into the clinic.
Clinical Trials
Many who can benefit from promising gene therapeutics face a significantly altered way of life. Many of these diseases are progressive. Thus, time is of the essence and the importance of every clinical trial has greater meaning to all of us at RhiaPharmaceutical.
