SMA is the name given to an extremely rare genetic muscle disease. However, unfortunately, individuals with this disease and their families spend their entire lives on machines due to this disease. Let’s look at what kind of disease SMA is and what we can do as individuals for babies with SMA.
SMA is a disease that we have seen frequently in traditional media tools and social media lately. Often occurring in infancy and the baby’s (or patient’s) lowering the quality of life this disease is related to the muscles. Assuming that the heart that pumps blood to the veins and the lungs that enable us to take the breath we need to live are also working with muscles, High schoolWe can understand how serious and deadly disease is.
According to the latest data in Turkey More than 1600 High school sick there is. Babies and children constitute the majority of this disease. While the number of patients with SMA is so high, the babies we see on social media make up almost 10% of these patients. So this is the number of families collecting aid campaigns for medicine on social media. That it does not exceed 150 is showing. We have explained this disease, which makes the lives of babies and families very difficult, for you, our readers.
What is SMA?
Spinal muscular atrophy (SMA), affecting the central nervous system, peripheral nervous system, and voluntary muscle movement it is a genetic disease. Most of the nerve cells that control the muscles are found in the spinal cord, which explains the presence of the word spinal in the disease name. The primary effect of SMA is seen on muscles that do not receive signals from these nerve cells. If the name of the disease is atrophy, shrink medical term of the verb. Atrophy in patients is seen when the muscles are not stimulated by nerve cells.
SMA, which mostly affects babies and children, causes deterioration in nerve cells in the brain and spinal cord. As a result of this deterioration, the brain, stops sending messages that control muscle movement. When all this happens, the patient’s muscles get weaker and smaller. Reduction of muscle mass and becoming unusable, controlling the patients’ head movements, sitting without assistance, walking, even in some cases as the disease progresses. swallowing and have trouble breathing causes.
What are the types of SMA?
The different types of SMA also have distinctive features regarding the course of the disease. The fatality and course of SMA, which has 5 different types, varies according to their types. Depending on the type of the disease, the symptoms also vary.
- Tip 0: This type is the rarest and most severe form of SMA and develops during pregnancy. Babies with this type of SMA move less in the womb. They are born with joint problems and weak muscle tissue. SMA patients with type 0 often do not survive due to respiratory problems.
- Tip 1: SMA type 1 is considered to be a very serious type of SMA. Children with SMA type 1 are often unable to support their head and sit without assistance. These children, whose arms and legs are usually drooping, may have swallowing and breathing problems.
- Tip 2: SMA type 2 usually affects children between 6 and 18 months of age. These types of SMA patients with moderate to severe symptoms vary from person to person and can walk or stand with assistance.
- Tip 3: SMA type 3, the mildest form of the disease, starts between the ages of 2-17 in children. Children with SMA type 3 are likely to be able to stand and walk without assistance. However, they may have trouble running, climbing stairs, or getting up from a chair.
- Tip 4: This form of SMA manifests itself in adulthood. It may present with symptoms such as muscle weakness, twitching or breathing problems. Generally, only the upper arms and legs of the patients are affected by this condition.
What causes SMA?
High school, “motor neuron survival” It is caused by the deficiency of a motor neuron protein called SMN. Our body needs this protein, as the name suggests, for normal motor neuron function. Protein deficiency is caused by genetic mutations on chromosome 5 in a gene called SMN1.