WHAT ARE THE SYMPTOMS OF LGMD?
LGMD, like other muscular dystrophies, is primarily a disorder of voluntary muscles. These are the muscles you use to move the limbs, neck, trunk and other parts of the body that are under voluntary control. Over time, muscle weakness and atrophy can lead to limited mobility and an inability to raise the arms above the shoulders.
WHAT CAUSES LGMD?
LGMD is caused by a mutation in a person’s genes that affect proteins necessary for muscle function. Patients who have LGMD 2B / Miyoshi Myopathy are missing the protein Dysferlin. Miyoshi Myopathy is genetically the same as LGMD 2B, but the initial symptoms include weakness in the lower legs. Dysferlin mutations are one of about 30 genetic causes of LGMD, and are generally considered the second most common type. Some types are autosomal dominant, meaning LGMD is inherited from one parent. Other types (including 2B / Miyoshi) are autosomal recessive and occur when a faulty gene is inherited from each parent. My parents both have one faulty copy of the dysferlin gene, but didn’t know it until my sister and I were diagnosed.
WHAT IS THE PROGRESSION OF LGMD?
At this time, progression in each type of LGMD can’t be predicted with certainty, although knowing the underlying genetic mutation can be helpful. Some forms of the disorder progress to loss of walking ability within a few years and cause serious disability, while others progress very slowly over many years and cause minimal disability. LGMD can begin in childhood, adolescence, young adulthood or even later. Both genders are affected equally.
FOR MORE INFORMATION...
For more information about Limb-Girlde Muscular Dystrophy 2B / MM, please visit the www.jain-foundation.org/.
For more information about the many forms of MD, please visit www.mda.org/.
ABOUT
I have Limb-Girdle Muscular Dystrophy type 2B / Miyoshi Myopathy. I was diagnosed in August 2008 when I was 14 years old. My sister, Stephanie, also has MD.
WHAT IS LGMD?
Limb-girdle muscular dystrophy (LGMD) isn’t really one disease. It’s a group of disorders affecting voluntary muscles, mainly those around the hips and shoulders. The shoulder girdle is the bony structure that surrounds the shoulder area, and the pelvic girdle is the bony structure surrounding the hips. Collectively, these are called the limb girdles, and it is the muscles connected to the limb girdles that are the most affected in LGMD.