Muscular dystrophy

Alternative Names

Symptoms

Symptoms vary with the different types of muscular dystrophy. Some types, such as Duchenne muscular dystrophy, are deadly, while other types cause little disability and are associated with normal life span.

The muscles affected vary, but can be around the pelvis, shoulder, face or elsewhere. Muscular dystrophy can affect adults, but the more severe forms tend to occur in early childhood.

Symptoms include:

• Muscle weakness that slowly gets worse
  • Frequent falls
  • Delayed development of muscle motor skills
  • Problems walking (delayed walking)
  • Difficulty using one or more muscle groups
  • Eyelid drooping (ptosis)
  • Drooling
• Mental retardation (only present in some types of the condition)
• Hypotonia (low muscle tone)
• Joint contractures (clubfoot, clawhand, or others)
• Scoliosis (curved spine)

Some types of muscular dystrophy involve the heart muscle, causing cardiomyopathy or arrhythmias.

Exams and Tests

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.

Often, there is a loss of muscle mass (wasting), which may be hard to see because some types of muscular dystrophy cause a build up 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:

• Serum CPK
• EMG (electromyography)
• ECG (electrocardiography)

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

• Myoglobin - urine/ serum
• LDH
• Creatinine
• AST
• Aldolase