How to Diagnose and Treat the Types of SMA
Spinal muscular atrophy. or SMA, is a group of diseases which generally affects the nervous system and the spinal cord. The symptoms of all the types of SMA are usually quite similar and generally occur when the motor neurons stop working. According to most of the health specialists, this usually happens when some of the genes, which are known as survival motor neuron, get damaged.
1. Diagnosis
As these diseases are hereditary, it can be quite tough to prevent them. However, if it is diagnosed at an early stage, it becomes quite easier for doctors to treat the symptoms of the disease. Before proceeding with the diagnosis, the doctor will ask for detailed information about the patient’s medical history. He or she may also take a physical exam to check the tendon reflexes or the strength of the muscles.
After the physical exam, he or she may ask for some tests to diagnose the disease. Some of these tests include:
- Blood tests
Some of the types of spinal muscle atrophy (SMA) are diagnosed through blood tests. These tests generally aim to find the mutated genes which affect the motor neurons of the patients. - Electromyography or EMG
Electromyography or EMG is a type of diagnostic procedure which helps the doctor understand your muscle and motor neuron health. An EMG uses small devices, which are known as electrodes, to translate the electrical signals that are transmitted by the motor neurons. - Amniocentesis
This type of diagnostic test can detect any kind of chromosomal malfunction occurring in the fetus. This test can help doctors diagnose several types of spinal muscle atrophy (SMA), including type 1 SMA.
2. Treatment
As you may already know, there is still no way of preventing or curing this condition. However, because of numerous research, they have found many treatment options which can help the patient live a longer life.
Some of these treatment options include:
- Medications
Various types of medications can help to treat the symptoms of the SMA. Among the medications, Spinraza is considered to be the most popular, as it can treat all types of spinal muscle atrophy (SMA). Zolgensma, another type of medication, is generally used to treat children who are aged less than 18 months. - Assistive technology
Numerous types of assistive devices are also used as a part of treatment to improve the quality of life and increase the life expectancy of the affected person. Examples of some of these devices are powered wheelchairs and ventilators. - Physical therapy
If the symptoms of the disease are being controlled with medications, physical therapy is also used to help the patient with muscle weakness. Options generally include wheelchair sports and water therapy.
SMA can affect both the children as well as adults. Additionally, it can also cause death if left untreated. Thus, if you have a family history of the disease and are thinking of starting your own family, going for genetic counseling first can be a great idea.