SMA (Spinal Muscular Atrophy) is a genetically inherited, progressive, neuromuscular disease that causes weakening of the muscles. There are some structures in the spinal cord called spinal motor neurons, and their function is to transmit movement orders from the spinal cord to the muscles. In SMA disease, these motor neurons in the spinal cord are damaged, and accordingly, the movement task cannot be transmitted to the muscles and the muscles lose their ability to move. The muscles that cannot work gradually weaken and the muscle mass shrinks, that is, atrophy occurs. The biological reason for this weakness is the inability of the gene called SMN in the body to produce protein. Because the SMN gene cannot produce protein, spinal motor neurons in the body cannot develop properly. As a result, weakness occurs in the person's muscles. The muscle weakness experienced by SMA patients is not a simple condition. Leyla Altıntaş, Specialist Physiotherapist from Therapy Sport Center Physical Therapy Center, underlined that only motor muscle involvements are seen in SMA, that is, the muscles that move the body and the muscles that perform functions such as breathing and swallowing, noted that there is no loss in cognitive functions such as vision, hearing and perception.
There are 4 different types of SMA
Specialist Physiotherapist Leyla Altıntaş, who stated that the manifestation and severity of the symptoms of SMA vary according to the types, explained that there are 4 different types of SMA in general, and said:
1-Type 1 SMA: It is also called Werding-Hoffman Disease and is the most common type of SMA. The symptoms begin to appear in the first 6 months of the baby and it is a fast progressive type. Slowing of the baby's movements, difficulty in sucking and breathing, and lack of head control are the general symptoms. In fact, the symptoms started to show themselves in the last months of pregnancy with the slowing of the baby's movements. SMA test can be done between the 10th and 13th weeks of pregnancy and the family is informed about this. Babies with Type 1 SMA disease should be treated without delay, otherwise the baby may die due to reasons such as difficulty in sucking and breathing, as the disease progresses rapidly.
2-Type 2 SMA: Symptoms of the disease appear between 6-18 months. In the meantime, the baby has gained some functions such as head contouring, sitting and walking, and these functions begin to regress with the disease. With the progression of the disease, these functions may be lost completely. Respiratory problems are seen from infancy and life expectancy mostly depends on respiratory problems. They live longer than Type 1 SMA.
3-Type 3 SMA: Also known as Kugelberg-Welander disease. Occurs after the baby is 18 months old. Along with muscle weakness, loss of flexibility and shortness of the muscles can be seen in the disease, and even scoliosis can develop in the spine. Its course is a little slower than the first 2 types. Gained functions slow down later. As long as the disease does not progress very rapidly, functions such as walking, sitting and breathing continue for life; However, activities that require intense effort and muscle power such as running and jumping cannot be performed. If early diagnosis is made and the right treatment is given, life expectancy is not affected by the disease.
4-Type 4 SMA: It is rare. Symptoms appear during adulthood. Its progress is very slow. It is not life-threatening, but can affect a person's quality of life.
How is the diagnosis of SMA disease made and what is the treatment method?
10-13 of pregnancy. Specialist Physiotherapist Leyla Altıntaş, who explained that early diagnosis will be made by performing an SMA test in the XNUMXnd week of pregnancy, stated that the diagnosis is made with various blood tests, EMG, biopsy or genetic tests after a detailed physical examination after the symptoms appear.
Specialist Physiotherapist Leyla Altıntaş, who stated that although there is no exact treatment method in SMA disease, the type of the disease is very important in the treatment, continued her speech as follows:
“Especially in patients with Type 1 SMA, drug treatments that will increase SMN protein production have been a great development in recent years. Apart from this, for all SMA types, the primary goal is to prevent respiratory problems and keep the patient away from infections. Stretching and strengthening exercises for muscle weakness and muscle shortness, balance and coordination exercises for preventing the loss of functions such as sitting and walking or at least reducing the rate of loss, and breathing exercises for respiratory muscles are of great importance. With the right and early diagnosis, the result of the right treatment, the quality of life of the person can be increased. For this reason, great benefits can be obtained from physiotherapy and rehabilitation practices.” he said.