Causes and Diagnosis

Causes and Diagnoses of Muscular Dystrophy

Muscular dystrophy is an inherited genetic disorder. It may look like other health problems, but blood tests, including genetic testing, may help confirm the diagnosis.

Causes of muscular dystrophy

Muscular dystrophy is caused by genetic mutations that prevent certain genes from making proteins that protect the muscle fibers. While muscular dystrophy can be hereditary, the genetic mutations can also occur randomly.

Diagnosis of muscular dystrophy

Muscular dystrophy is typically diagnosed during childhood, though some forms of the disease have an onset in adulthood. Diagnostic tests for the disease include:

  • Blood tests to determine if there is a hereditary component
  • Muscle biopsy to look for fatty deposits
  • Electromyogram (EMG) to identify muscle weakness caused by depleted muscle tissue, not nerve damage
  • Electrocardiogram (EKG or ECG) to check for heart muscle damage