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:
- Becker’s muscular dystrophy
- Duchenne muscular dystrophy
- Emery-Dreifuss muscular dystrophy
- Facioscapulohumeral muscular dystrophy
- Limb-girdle muscular dystrophy
- Myotonia congenita
- 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:
- Aldolase
- AST
- Creatinine
- LDH
- Myoglobin – urine/ serum