Muscular dystrophy, a group of diseases causing progressive muscle loss and weakness, is diagnosed through a series of tests, including enzyme tests, muscle biopsies, genetic tests, electromyography, and tests that check functionality of the heart and lungs, according to Mayo Clinic. The patient's medical and family history are important for making an accurate diagnosis, as well as a physical examination.
Individuals suffering from muscular dystrophy carry abnormal genes that prevent normal healthy muscle from forming, explains Mayo Clinic. Genetic testing is performed by analyzing blood samples for mutated genes associated with the condition. Enzyme tests check the blood for high levels of enzymes such as creatine kinase. Unless a person has experienced a traumatic injury, higher-than-normal levels of the enzyme indicate muscle disease.
A muscle biopsy is conducted by removing a small sample of muscle tissue with a hollow needle or through an incision, notes Mayo Clinic. Biopsy analysis is helpful to distinguish dystrophies from other types of disease. An electromyography uses a needle to measure the activity level and changes in pattern of muscles when flexed.
As of 2015, there is no cure for muscular dystrophy; however, treatment can reduce joint problems and prolong spinal mobility, states Mayo Clinic. Medications and surgery are possible treatment options, as well as physical therapy such as range-of-mobility exercises, stretching, braces and breathing assistance. Mobility aids such as walkers, canes and wheelchairs are available to patients to help maintain independence.