How is a Diagnosis Made?

In general, symptoms dictate the initial reason for investigation. Children who fail to reach normal milestones in walking, running, etc. in a predicted amount of time might raise some concern, as would children who are having difficulty raising their arms above their shoulders, climbing stairs, or having problems standing from a lying position. Adults typically will have reached normal developmental milestones, but will develop new weakness in muscle groups, spasms, stiffening or loss of muscle bulk as a MD appears. Any of these should prompt medical attention and investigation as there are many neuro-muscular disorders that could be present.

After a routine examination, other tests may include lab exams such as CPK, Aldolase, and other muscle enzymes. These may be elevated in the blood stream as muscle destruction in MD occurs. Electrical tests of the muscles and nerves (called an electromyogram or EMG) may be preformed which also can show patterns of muscle disease. Lastly, muscle biopsy for microscopic analysis and serum gene testing may further clarify the presence and even type of Muscular Dystrophy.

If MD is diagnosed, treatment options are still limited at present, but there are several measures that can potentially slow the process of these disorders. Likewise, there are treatments that minimize the disabilities, secondary symptoms and secondary reactions to having Muscular Dystrophy. While some of these options may include prescription medications, others involve physical and occupational therapies, dietary and nutritional changes, and lifestyle changes. All are usually employed to maintain optimal ability to function.