Limb-girdle muscular dystrophy (LGMD)
Advancing the science behind limb-girdle muscular dystrophy
LGMD: A Group of Neuromuscular Diseases with Many Subtypes
Limb-girdle muscular dystrophy (LGMD) is a group of distinct diseases that cause weakness and wasting of the muscles, generally starting with the muscles around the hips and shoulders and eventually progressing to the arms and legs. However, some subtypes start distally at the leg or arm muscles and then progress to the hip and shoulder muscles. LGMD can be caused by a single gene defect that affects specific proteins within the muscle cell, including those responsible for keeping the muscle membrane intact.
Symptoms may appear at any age, depending on the type of LGMD, and in some subtypes tend to progress faster in younger patients. Individuals may have trouble getting out of chairs or climbing stairs. Eventually, they may need a wheelchair to get around. Some forms of the disease lead to heart and breathing problems and early death.
Over 30 subtypes exist, and both genders are affected equally.
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Genetic Testing: Know Your LGMD Subtype
Given the complexity of the various types of the LGMDs, genetic testing plays a critical role in diagnosing which subtype you may have. In some cases, additional specialized genetic testing may be necessary to identify your subtype. A doctor can identify the appropriate test and help patients understand the results.