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Superficial anterior muscles
Superficial anterior muscles
OverviewSymptomsTreatmentPrevention

Limb-girdle muscular dystrophies

Alternative Names:
Muscular dystrophy - limb-girdle type

Symptoms:
  • 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


Signs and tests:
  • 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 degenerating muscle with splitting of muscle fibers and presence of cells of the immune system (phagocytes), which are not normally present
  • In some less common muscular dystrophies, the heart may show weakness on echocardiogram (heart failure) or abnormal rhythm on ECG


Review Date: 11/12/2002
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

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