The basis of recognizing the apparent presence of Duchene muscular dystrophy is to understand the signs and symptoms. A clinician can ask for different diagnostic procedures only after he/she understands the symptoms associated with this disorder. The symptoms usually manifest before the age of six and include fatigue, mental retardation, difficulty in walking and muscle weakness. This muscle weakness starts from the pelvic region and the neck and shifts rapidly to other parts of the body, though it shifts slowly towards arms and neck. Therefore, patients with this disorder may be confined to a wheelchair by the age of 12 years. The patient may experience frequent falls and difficulties in motor skills along with irregular heart beat, abnormal heart muscles, deformities in chest and back or muscle contractions in the heels and legs.

Electromyography or EMG is used for diagnosing this disorder. This test is an invasive procedure that tests the electrical activity of the body muscles that indicate muscle weakness and problems with muscle activity. The test is generally used in combination with another test called Nerve Conduction study. EMG may be a little uncomfortable because it involves pin insertions. But the pin has no risk of infection. For this procedure, small pins are inserted into the muscle area to measure activity. These needles are not similar to the needles used for vaccination and, therefore, they don’t require any medication for injection. The patient has to contract his muscles during the procedure to test the electrical impulse.

Nerve conduction studies are used along with this testing procedure so that the doctor can determine whether the problems with muscle activity and electrical activity of the muscles are caused by muscular dystrophy or any other related disorder. The test is non invasive but uses electrodes that are taped to the skin. These electrodes provide mild electric shocks. The nerve conduction studies are done on the same day as EMG and usually take about 30 to 60 minutes. The EMG activity is monitored by technician through oscilloscope while muscle activity is monitored through a speaker.

Genetic tests are usually prescribed to determine the presence of genetic disorder such as Duchene muscular dystrophy. These tests try to find out the possible genetic conditions in unborn babies and also indicate whether the people carrying a gene of the disorder may pass it on to their offspring. Depending upon the type of genetic test that the doctor may suggest, the patient will have to undergo an invasive or a non invasive procedure. Generally, expectant mothers or couples with a family history of Duchene muscular dystrophy undergo this examination to ensure that their child is not carrying this disorder. The tests are safe to be performed on pregnant mothers and don’t present any radiation risks. The tests can also help to determine whether the disorder can be prevented or whether the gene can be treated through gene alteration techniques. Genetic testing can also help in learning the duplication or mutation of the gene responsible for this disorder. Genetic counselors provide the required information about the testing.

Muscle biopsy is an effective procedure that helps to determine the presence of Duchene muscular dystrophy. In this test, a small piece of muscle tissue is removed from the patient’s body and is examined. The test is invasive but is painless because the individual is provided with a numbing medicine. Usually, there are two types of muscle biopsies:

a. Needle biopsy: This biopsy involves insertion of a needle in the muscle. The needle is removed and a part of tissue sample sticks to it. More than one needle insertions may be required for this biopsy.

b. Open biopsy: This type of biopsy requires the doctor to make a small cut into the skin of the individual. The cut is deep enough to reach the muscle and the muscle tissue is then removed for testing.

Our body tissues contain enzymes that enter the blood if these tissues are damaged or destroyed. So, testing of the serum enzymes in blood can help the doctor to determine the presence of Duchene muscular dystrophy. To diagnose this disorder, CPK or CK serum enzyme testing is done. CPK is Creatine Phosphokinase that is mostly present in the skeletal muscle, heart muscle and the gastrointestinal tract. This enzyme enters the blood stream only when the muscle cells are damaged. Testing this enzyme can help in diagnosing heart damage or skeletal muscle damage or Duchene muscular dystrophy. The test is non-invasive and requires single visit to the doctor.

ECG or electrocardiogram can help in the diagnosis of this disorder when used with other diagnostic procedures. The testing can help in understanding the effect of this disorder and the speed at which it is affecting the muscles. The test records the electrical activity of heart and detects the problems with muscles related to the heart and the damage caused to the heart muscles due to Duchene muscular dystrophy. The test is non invasive but it may require multiple visits to the doctor, as the doctor will require to note the changes to muscle and the manifesting weakness due to the disorder over a stretch of time. Electrocardiogram may also indicate presence of arrhythmia or irregular heart beat along with congestive heart failure which is a rare sign of this disorder.

Athena diagnostics have a series of blood tests that physicians can perform to diagnose patients with Duchene muscular dystrophy. The tests are invasive but are not discomforting. The blood tests are divided into two panels specific to males and females. The tests are performed in reflexive manner. The tests also enable the families to know the inheritance pattern in x-lined recessive allele, which also allows the expectant mothers to know whether their child is at risk of having muscular dystrophy. Athena diagnostics is not a procedure, but a set of procedures followed by medical organizations to determine and diagnose muscular dystrophy and its types.

The sequence reflexive test is specifically designed for males and females. The test is used for evaluating patients who are suspected of having this disorder. The test can also be performed on other family members to recognize if there is a sequence pattern in the development of Duchene muscular dystrophy. The test is used in combination with the deletion/duplication test that evaluates whether the Duchene muscular dystrophy gene is deleted or duplicated in females or males. The test can also be used on all the family members to recognize the inheritance pattern and to protect future generations from this disorder.

This newly developed blood test aims at diagnosing this disorder in an affordable and accurate manner. The test has been developed by researchers from University of Utah. The test is invasive but reduces the chance of non-detection, as the disorder goes undetected in almost 35 percent of the children. The test needs the clinicians to sequence the dystrophin gene that is responsible for the duplication and mutation of muscular dystrophy. It also looks for the otherwise missing portion of dystrophin gene called the exon which is generally missed by other tests. This newly developed test is now used by several medical organizations and would soon be available in most of the hospitals and diagnostic centers.

Strength testing uses manual muscle testing methods such as MRC scales to assess the muscle weakness as well as the apparent disease progression. The tests are used to assess the response of muscles and are also used in later stages to monitor muscle imbalance and response of the muscle to treatment. These tests are also used to assess the muscle impairment in daily activities and determine the level of muscle worsening to distinguish this disorder from other types of muscular dystrophy. The patient is monitored on frequency of falls, step activity, self care skills, computer use, writing, functioning in school and community to determine the presence of this disorder. Timed tests may also be used along with these tests to understand muscle response before the diagnosis and after the initiation of treatment.