SMA occurs when a special gene that produces a protein that keeps a person’s muscles strong does not work or is malfunctioning. Treatment of people living with SMA often requires a group of specialists. Physical therapists can help strengthen muscles. Respiratory therapists may attempt to increase breathing abilities. Support is important for people living with this disease and their families. Raising awareness about SMA can help society better assist and develop a better understanding of these individuals. In this way, people living with SMA can have a better quality of life and the chance for support.
What is SMA?
SMA is a muscle disease caused by the loss of motor neurons in the spinal cord. Motor neurons control the movement of muscles. The more these neurons are lost, the weaker the muscles become. SMA causes weakness and atrophy (shrinkage) of the muscles. This can make daily activities such as walking, breathing and swallowing difficult. SMA is divided into 4 different types. The most severe form, Type 1, can cause death in infancy. Other types cause milder symptoms and may last into adulthood.
People with SMA need support and resources to live their lives as fully and independently as possible. Resources such as SMA support groups, physical and occupational therapy, nutritional support, and psychological support are available. New treatments are being developed for people with SMA. These treatments can slow or stop the progression of SMA and improve patients’ quality of life.
SMA, SMN1 It is caused by the mutation of a gene called . This gene encodes a protein that is necessary for the survival and function of motor neurons. Mutations in the SMN1 gene cause deficiency or disruption of this protein. This leads to loss of motor neurons and muscle weakness.
SMA is an autosomal recessive disease. This means that a mutated SMN1 gene must be inherited from both parents. If a parent carries a mutated SMN1 gene, the child has a 25% risk of developing SMA. SMA is divided into 4 different types. Type 1 is the most severe form and can cause death in infancy. Type 2, Type 3, and Type 4 cause milder symptoms and can last into adulthood.
At what age does SMA appear?
SMA can occur at any age, from infancy to adulthood. However, it most commonly occurs in infancy. Symptoms of SMA vary depending on the type and severity of the disease. Type 1 SMA It is the most severe form and usually occurs before or shortly after birth. The following symptoms may occur in babies with type 1 SMA:
- Weakness in head control
- Delay in sitting and walking skills
- muscle weakness
- breathing problems
- feeding problems
Type 2 SMA It is a moderate form and usually occurs between the ages of 6-18 months. The following symptoms may occur in children with type 2 SMA:
- Delay in walking skills
- muscle weakness
- breathing problems
- feeding problems
Type 3 SMA It is a mild form and usually occurs after 18 months. The following symptoms may occur in children and adults with type 3 SMA:
- Delay in walking skills
- muscle weakness
- breathing problems
- feeding problems
Type 4 SMA It is the mildest form and usually occurs in adulthood. People with type 4 SMA may experience the following symptoms:
- muscle weakness
- breathing problems
- feeding problems
Can SMA be treated?
SMA is a muscle disease caused by the loss of motor neurons. Motor neurons are nerve cells that control the movement of muscles. The more these neurons are lost, the weaker the muscles become. SMA causes weakness and atrophy (shrinkage) of the muscles. This can make it difficult to walk, breathe and eat. There is no cure for SMA, but treatments can help relieve symptoms and improve quality of life. Treatments such as physical therapy, exercise, orthosis, respiratory therapy and swallowing therapy can be applied. Because SMA is a genetic disease, there is no way to prevent SMA, so it is important to seek genetic counseling if you are planning to become pregnant.
How is SMA treated?
New treatments are being developed for SMA. These treatments can slow or stop the progression of SMA and improve patients’ quality of life. One of these treatments is gene therapy. Gene therapy is a treatment that aims to replace the missing or damaged copy of the SMN1 gene with a healthy copy. Gene therapy can stop or slow the progression of SMA and improve patients’ quality of life.
Another treatment method is molecular therapy. Molecular therapy is a treatment that aims to preserve the survival and function of motor neurons. Molecular therapy can slow or stop the progression of SMA and improve patients’ quality of life. SMA treatment varies depending on the type and severity of the disease. Type 1 SMA The following treatments can be applied for:
- Physiotheraphy: It helps maintain muscle strength and function.
- Exercise: It helps maintain muscle strength and function.
- Orthosis: It helps support muscle strength.
- Respiratory therapy: It helps support the respiratory muscles.
- Swallowing treatment: It helps support swallowing muscles.
Type 2 SMA The following treatments can be applied for:
- Physiotheraphy: It helps maintain muscle strength and function.
- Exercise: It helps maintain muscle strength and function.
- Orthosis: It helps support muscle strength.
- Respiratory therapy: It helps support the respiratory muscles.
- Swallowing treatment: It helps support swallowing muscles.
Type 3 SMA The following treatments can be applied for:
- Physiotheraphy: It helps maintain muscle strength and function.
- Exercise: It helps maintain muscle strength and function.
- Orthosis: It helps support muscle strength.
- Respiratory therapy: It helps support respiratory muscles when necessary.
- Swallowing treatment: It helps support swallowing muscles.
Type 4 SMA The following treatments can be applied for:
- Physiotheraphy: It helps maintain muscle strength and function.
- Exercise: It helps maintain muscle strength and function.
- Orthosis: It helps support muscle strength.
Some newer treatments used to treat SMA include:
- Gene therapy: It is a treatment that aims to replace the missing or damaged copy of the SMN1 gene with a healthy copy.
- Molecular therapy: It is a treatment that aims to preserve the survival and function of motor neurons.
These treatments offer new hope for people with SMA. However, the long-term effects of these treatments are not yet known.
The duration of SMA treatment varies depending on the type and severity of the disease, the individual characteristics of the patient and the treatment applied. Type 1 SMA Treatments usually continue for life. This is to help prevent progression of muscle weakness and maintain the patient’s independence and quality of life.
Type 2 SMA Treatments for cancer usually begin in childhood and may continue into adulthood. This is to help prevent progression of muscle weakness and maintain the patient’s independence and quality of life. Type 3 SMA Treatments for cancer usually begin in childhood and may continue into adulthood. However, these treatments are usually intended to slow or stop the progression of muscle weakness. Type 4 SMA Treatments usually begin in adulthood. These treatments are usually meant to slow or stop the progression of muscle weakness.
The lifespan of SMA patients can vary significantly depending on the type of SMA, the age of onset of the disease, and the patient’s general health condition. SMA is generally divided into three main types: Type I, Type II and Type III. Each of these types shows different symptoms, severity and course.
- Type I SMA: This type is usually the most severe and usually begins in infancy. Most babies with type I SMA show symptoms within the first few months after birth. These babies often cannot sit, walk, and have breathing difficulties. The course of type I SMA is usually more rapid, so survival can often be limited to a few years.
- Type II SMA: This type usually begins in childhood. Individuals with type II SMA can usually sit, but their ability to walk is often limited. Respiratory problems are less pronounced compared to Type I. The life expectancy of individuals with type II SMA may be longer depending on the severity of the disease and other factors.
- Type III SMA: This type usually begins in childhood or adolescence. Individuals with type III SMA can usually walk on their own, but may experience loss of muscle strength over time. The course of type III SMA is usually slower, so life expectancy may be longer.
Can SMA be corrected with medication?
SMA is generally a genetic neuromuscular disease and so far there is no completely curable treatment. However, as a result of significant research and developments in the treatment of SMA, certain medications have shown positive results in slowing the course of the disease or relieving certain symptoms. The treatment process requires a multidisciplinary approach and patients often collaborate with a neurologist, physiotherapist, occupational therapist, nutritionist and other specialists. Starting treatment early can often support more positive results.