Spinal muscular atrophy or SMA is a hereditary disease. It is majorly characterized by the dysfunction of the nerve cells in the spinal cord. Due to this impairment, patients with SMA tend to face the progressive development of the muscular weakness (Kolb & Kissel, 2015). In the long run, this weakness results in the complete atrophy of the muscles. Therefore, it is evident that spinal muscular atrophy can lead to a complete immobilization of the patients. Unfortunately, there is still no specific treatment that can completely eliminate SMA, and only the symptomatic therapy which takes the form of physiotherapy and massage can be applied to support the patients with the given disease.
The complications of SMA are extremely adverse. For example, as a result of the lack of mobility which is a consequence of the constant sitting or lying position, a vast array of disorders occur in the body of the patients who have spinal muscular atrophy. It happens because the work of musculoskeletal system is severely violated. When the patients with SMA do not change their position, experiencing prolonged sitting, a severe pressure on their spine occurs. Accordingly, the intervertebral discs suffer, affecting the lumbar spine and the cervical spine (Stiel et al., 2018). As a result, the patients can also develop scoliosis which leads to the occurrence of multiple health disorders. The list of health complications that emerge if the spinal deformities which are associated with spinal muscular atrophy are not treated in a timely and relevant manner includes but is not limited to the dysfunction of the respiratory organs and the disruption of the work of the circulatory system.
When it comes to the genetic causes of spinal muscular atrophy, it is possible to note that the given disease can emerge as a consequence of inheriting the mutation leading to SMA from the parents. The research holds that some people can act as the carriers of asymptomatic mutations, having the recessive genes of this disease. Even they do not affect their bodies, these genes can be passed to their children. SMA most commonly occurs in the cases when both parents are the carriers of such mutations. Therefore, both men and women need to be screened because a child with SMA is usually born when mutations occur from both the mother’s side and the father’s side. It is evident that spinal muscular atrophy can emerge even though there was no history of this disease in the family, revealing itself only when both parents carry the mutations. The probability of having a child who will be diagnosed with SMA is around 25%, while there is the same probability of having a healthy child who will not have a spinal muscular atrophy (Cure SMA, 2019). In half of the cases, a child will be a carrier of SMA, having the recessive genes of spinal muscular atrophy and not suffering from this disease directly (Cure SMA, 2019) It is essential to note that the given disease can be observed during the first months of life of a baby. Yet, it can also occur at a later age.
The key adversities that lead to SMA are mutations in SMN1 and SMN2 genes (Cure SMA, 2019). Due to the prevalence of these defective genes, the process of production of SMN protein which is responsible for the survival of the motor neurons is disrupted. Without it, the nerve cells that are located in the spinal cord, coordinating the movements and regulating the muscle tone, start dying. Accordingly, the muscles of the legs, back, and even hands do not receive the necessary signals that trigger their movement. In the end, they lose tonus and gradually atrophy.
- Cure SMA. (2019). The Genetics of Spinal Muscular Atrophy. SMA Care Series. Cure SMA.
- Kolb, S. J., & Kissel, J. T. (2015). Spinal muscular atrophy. Neurologic clinics, 33(4), 831-846.
- Stiel, N., Stuecker, R., Kunkel, P., Ridderbusch, K., Hagemann, C., Breyer, S., … & Spiro, A. S. (2018). Treatment of pediatric spinal deformity with use of recombinant human bone morphogenetic protein-2. Journal of Materials Science: Materials in Medicine, 29(7), 93.