What is spinal muscular atrophy?
Spinal muscular atrophy (SMA) is a genetic disease affecting the part of the nervous system that controls voluntary muscle movement.
Most of the nerve cells that control muscles are located in the spinal cord, which accounts for the word spinal in the name of the disease. SMA is muscular because its primary effect is on muscles, which don’t receive signals from these nerve cells. Atrophy is the medical term for getting smaller, which is what generally happens to muscles when they’re not active.
Muscular spinal cord atrophy (SMA), also known as "autosomal recessive proximal muscle spinal cord atrophy" and "spinal muscular atrophy 5q", is also a rare neuromuscular disease. The loss of motor neurons and muscle relaxation are often associated with early death.
The disease is caused by a defect in the SMN1 gene responsible for the production of a protein called SMN, which is present in all cells of the eukaryote and is essential for the survival of motor neurons.
The disease shows varying degrees of severity, which is associated with an increase in muscle development and mobility impairment. Proximal muscles (thighs and arms) and respiratory muscles are involved before the rest. Other body organs are also affected, especially in the early-onset form of the disease.
Musculoskeletal atrophy is a hereditary illness.
causes and effects
In all types of zero and one SMA, symptoms appear from the inside of the womb as a decrease in fetal movements. Type 1 disease is characterized by inflammation and inability to cramps, the progression of the whole body's muscle weakness, difficulty in breathing, muscle weakness, especially muscle weakness, and spiral movements of the tongue and forms of swallowing and nutrition.
Types of two, three, and four SMAs with more muscular weakness in the muscles around the pelvic belt and shoulder belt.
Cure sickness sma
Currently the only available drug for the treatment of MSD is spinoraza, which is manufactured by Biohen Company and commercially approved by the Food and Drug Administration (FDA). This drug is injected ambulatoryly in the patient's spinal canal and the injection process of the spincerase is as follows.
The injection of this drug four times a week with a two-week interval, the initial injection of Spineraza, occurs within two months with a 14-day interval.
After the completion of the two-month medication period, the medication is continued at intervals of 4 months.
In the end, during the process of spinorrase injection, the patient should undergo occupational therapy to increase the production of smn2 gene. The drug is currently offered only in countries such as the USA, Italy, Turkey, and the cost of a treatment course is about $ 750,000.