Spinal Muscle Atrophy, also known as SMA, is a genetic disorder that creates several barriers in a person’s muscle movements. The condition often occurs when the spinal cord and the brainstem have a loss of specialized motor neurons. This loss of motor neurons leads to muscle weakness and muscle wasting, which causes several physical disabilities such as the inability of walking, crawling, sitting straight up, and even controlling head movements. In more serious cases of SMA, patients face difficulty in breathing and swallowing.
SMA can cause life-altering symptoms, which arises the rise of early diagnosis and treatments. The diagnosis of SMA is based upon the type of SMA a patient possesses. There are essentially 4 different types, each of them project different symptoms.
Diagnosis of SMA is mainly done upon observing the symptoms after a physical examination and going through the medical history of the patient’s family. Diagnosis also includes certain tests recommended by doctors that help to eliminate other possible disorders and get an accurate diagnosis.
There are two genes called the Survival Motor Neuron-1 gene (SMN1) and Neuronal Apoptosis Inhibitory Protein gene (NAIP) that contribute to the occurrence of SMA. Learning about the status of these genes is through genetic testing, which is an essential diagnostic procedure that helps doctors confirm the presence of the disorder. It is a non-invasive test that includes a blood sample to be tested in the laboratory.
Electrodiagnostic tests are diagnostic techniques designed to test the function of nerves and muscles. There are two parts of these tests where nerve testing is done through nerve conduction studies and muscle testing is done through electromyography. Doctors also use these tests to identify the causes of certain symptoms like neck and back pain, strength loss, and numbness/tingling.
Muscle and nerve biopsy
A muscle biopsy is one of the most common diagnostic tests done for SMA. It is often done when genetic testing fails to confirm the diagnosis. A muscle and nerve biopsy includes taking a small sample of muscle and nerve tissue through a surgical procedure. The sample is then tested in the laboratory to determine the signs and symptoms of the disease.