Spinal muscular atrophy diagnosis

Setting a proper diagnosis remains one of the basic principles that improve the quality of life for patients with spinal muscular atrophy. At first, medical practitioners have to look through the patient’s previous medical records, get more information about the current symptoms of the disease, and conduct physical and neurological examinations. After that, the neurologist prescribes a list of lab tests and other medical procedures to help verify a diagnosis. Complete blood count and inflammation blood test will help exclude infectious causes of symptoms similar to spinal muscular atrophy and obtain additional information about the patient’s current condition. In addition, kidney and liver function evaluation will help pick the most effective yet non-harmful methods for future treatment and ensure that symptoms are not toxic-related. Sometimes, it might be necessary to undergo DNA tests to help determine specific genetic mutations that cause spinal muscular atrophy. Based on electromyography results, medical practitioners will discover any problems with nerves that help muscles to contract, any muscular dysfunctions, and transmission of nerve signals from nerves to muscles. A nerve conduction study will help to get more information about the speed of nerve impulses in the nervous fibers. Muscle biopsy and histopathological specimen examination help to distinguish spinal muscular atrophy from similar disorders.