What is SMA Disease? What are the Symptoms and Treatment?

What is SMA, also known as “loose baby syndrome”? What are the symptoms of SMA disease, at what age does this disease appear and how is it understood?

In this article, we have brought together all the details you need to know about the causes and treatment of SMA, which can lead to serious consequences with the destruction it causes on the muscles.

What is SMA disease?

SMA, or Spinal Muscular Atrophy, is caused by a disruption in movement nerve cells. In this disease, which mostly occurs in babies and therefore also known as Loose Baby Syndrome, the SMN gene located in the spinal cord, called the anterior horn, cannot produce the necessary protein and cannot feed the nerve cells. Therefore, the motor nerve cells in the spinal cord begin to die. As a result, serious functional losses begin to occur in the muscles.

SMA can occur in both infants and adults. However, the course of the disease is more difficult and rapid in infants and young children, while it progresses mildly and slowly in adults. You may wonder, at what age does SMA disease start ? The manifestation of the disease may vary according to the types of SMA. We have mentioned the types of SMA below.

What is SMA Type 1?

It occurs in infants 6 months of age or younger. It is the most severe course of SMA. In this type, also called hypotonic baby;

  • lack of movement,
  • Inability to control the head
  • narrowing of lung capacity,
  • Recurrent respiratory tract infections,
  • Problems such as lack of sucking, arm and leg movement are seen.

In SMA type 1 disease, the baby may need respiratory support after a while due to lung problems.

What is SMA Type 2?

It is seen in babies between 6-18 months. In this variety, the baby does not show any developmental problems until 6 months of age. After 6 months, some problems begin to appear. The baby can lift his head, control it, but cannot sit or walk alone. Apart from these;

  • not gaining weight,
  • Cough,
  • recurrent respiratory infections,
  • Scoliosis,
  • It can also create problems such as powerlessness.

What is SMA Type 3?

This type of SMA disease shows symptoms after 18 months. There is no developmental problem so far. The progression of the disease in SMA Type 3 may continue until the age of 18 and may spread over time.

Among the problems created by SMA Type 3;

  • slow development,
  • Weakness in the muscles as time progresses,
  • There are cases of not being able to climb stairs.

As this problem progresses, the need for a wheelchair may arise and scoliosis may occur.

What is SMA Type 4?

We can call this type SMA disease in adults. The disease progresses very slowly; loss of walking, running, or breathing is rare. Problems such as tremors, muscle twitches and spinal curvature may occur.

What causes SMA disease?

Parents who encounter loose baby syndrome often think ” Is SMA disease genetic ?” The question arises. Yes, all changes in the nerve cells in the anterior horn region, and therefore SMA, occur by genetic transmission. We can say that the causes of SMA disease are recessive genes in both the mother and the father. If this recessive gene is in a single mother or a single father, only carriers occurs, the disease does not develop.

SMA symptoms

We said that there are different types of SMA. Therefore, it would not be correct to talk about a set of symptoms. But still, let’s give a general information about the symptoms of SMA disease.

  • Weakness,
  • developmental delay,
  • Absence of movements such as walking, running,
  • respiratory problems,
  • Inability to control the head
  • Scoliosis is one of the most prominent features of SMA. Again, each problem should be examined individually and detailed examination should be made to confirm that these symptoms indicate SMA.

In the light of this information, you may wonder how to understand SMA disease . When the child is taken to the hospital with the symptoms experienced, first of all, tests such as EMG, nerve and muscle measurement are performed. Apart from these, the disease can be diagnosed by making genetic measurements.

How is SMA treated?

The treatment of SMA disease is not yet available, mostly the symptoms of the disease are treated. In this way, the child’s quality of life is increased. For example, if the child has respiratory distress, the treatment is based on this. In this way, the complications of the disease are healed. In addition, it is tried to raise awareness by giving care suggestions to the families of children with SMA.

Is there a cure for SMA disease?

Since a large part of the health system is run by private health insurance companies and partially by the state, no SMA drugs are covered by the state. The access of an SMA patient to a “gene therapy” drug depends on the private health insurance coverage of that person.

Today, many families with children with SMA have tried to make their voices heard on social media, but unfortunately, these calls have not found an answer. There is a drug that has been studied since 2016 for the treatment of SMA. This drug, which has been used in Turkey since 2017, encourages the SMN gene to produce protein and thus prevents cell death. However, the SMA drug can only be used for type 1 and the cost is very high.

Is SMA disease fatal?

The biggest problem caused by SMA is lung and therefore respiratory problems. In addition, nutritional difficulties complicate the course of the disease. For this reason, if the necessary treatments are not applied or the disease progresses very quickly, it can become fatal.

Let’s answer the question of how long SMA patients live , which is one of the most curious things about the subject . This situation also varies according to the SMA type. While it is said that the average life expectancy in SMA type 2 is 5 years, there are also miraculous SMA type 1 patients who can live up to 40 years. This depends on the severity of the symptoms of the disease.

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