Limb-girdle muscular dystrophies

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Superficial anterior muscles

Muscular dystrophy - limb-girdle type

• Muscle weakness in pelvis, hips, upper legs, shoulders
• Loss of muscle mass in the same areas, thinning of those body parts
• Low back pain
• Abnormal, sometimes waddling, gait while walking
• Later in disease, there can be facial muscle weakness
• Later in the disease, muscles of the lower legs, feet, lower arms, and hands can become weak
• Late in the disease, there can be contractures of joints (they become fixed in a contracted position)
• Palpitations or passing out spells can be caused by abnormal heart rhythms
• Sometimes the calves will look large and muscular (pseudohypertrophy), but they are actually not strong

• Normal muscle biopsy for dystrophin (the protein that is defective in the more common Duchenne muscular dystrophy)
• Electromyogram (EMG) testing shows a pattern called myopathy, sick and dying muscle fibers
• High blood creatine kinase levels
• Muscle biopsy shows deteriorating muscle, with splitting of muscle fibers and the presence of cells of the immune system (phagocytes), which are not normally present
• In some less common muscular dystrophies, the heart may show weakness (heart failure) on echocardiogram, or an abnormal rhythm on ECG

Review Date: 08/11/2006
Reviewed By: Brian Kirmse, MD, Mount Sinai School of Medicine, Department of Human Genetics, New York, NY. Review provided by VeriMed Healthcare Network.