Muscular Dystrophy
Limb-Girdle Muscular Dystrophy
Limb-girdle muscular dystrophy is a term used to describe 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, specifically the muscles of the shoulders, upper arms, pelvic area, thighs, and, occasionally, the heart. LGMD2C is one of the more severe kinds of LGMD, frequently impacting children at a young age. This page provides details about limb-girdle muscular dystrophy type 2C.
LGMD2C At A Glance
Muscular dystrophy is a group of hereditary muscle diseases and limb-girdle muscular dystrophies are those in which the muscles most severely affected are the hip and shoulder muscles, the so-called “limb girdle muscles.”
Limb-girdle muscular dystrophy type 2C (“LGMD2C”) is a more severe limb-girdle muscular dystrophy and is one of the two or three most severe muscular dystrophies. Children with LGMD2C cannot produce a protein, gamma sarcoglycan, necessary for muscle strength and function. Instead of muscles growing stronger after exercise, muscles deteriorate. Although children with LGMD2C like Kurt and Peter are able to live normally at young ages, over time their deteriorating muscles prevent them from engaging in a number of typical childhood activities. The disease is highly variable. Many children with LGMD2C are in a wheelchair in their mid-to-late teenage years.
The muscles most affected in limb girdle muscular dystrophy (LGMD) are those surrounding the shoulders, hips, and nearby muscles in the legs and arms. The muscles weaken over time. Inside each muscle cell, many proteins, some of which are shown here in blue and yellow-orange, protect the cell when it contracts. When any of the proteins are missing or nonfunctional, LGMD is the result. The protein that causes LGMD2C, gamma sarcoglycan, is one of these proteins. The Kurt+Peter Foundation focuses on identifying patients that are missing gamma sarcoglycan and figuring out ways to replace the protein in each muscle cell of these patients.