Muscular Dystrophy : Causes & Diagnosis

Muscular dystrophy is a group of disorders that involve muscle weakness and loss of muscle tissue that get worse over time.

Causes & Risk Factors

Many diseases called muscular dystrophies (MD) are inherited disorders, such as:

  1. Becker’s muscular dystrophy
  2. Duchenne muscular dystrophy
  3. Emery-Dreifuss muscular dystrophy
  4. Facioscapulohumeral muscular dystrophy
  5. Limb-girdle muscular dystrophy
  6. Myotonia congenita
  7. Myotonic dystrophy

Tests & Diagnostics

A physical examination and your medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.
Signs may include:

  • Curved spine (scoliosis)
  • Joint contractures (club foot, claw hand, or others)
  • Low muscle tone (hypotonia)

Some types of muscular dystrophy involve the heart muscle, causing cardiomyopathy or disturbed heart rhythm (arrhythmias).
Often, there is a loss of muscle mass (wasting), which may be hard to see because some types of muscular dystrophy cause a buildup of fat and connective tissue that makes the muscle appear larger. This is called pseudohypertrophy.
A muscle biopsy may be used to confirm the diagnosis. In some cases, a DNA blood test may be all that is needed.
Other tests may include:

  • Electrocardiography (ECG)
  • Electromyography (EMG)
  • Serum CPK

This disease may also alter the results of the following tests:

  1. Aldolase
  2. AST
  3. Creatinine
  4. LDH
  5. Myoglobin – urine/ serum

You may also like: