Does anyone in your family or someone you know have SMA, or Spinal Muscular Atrophy ? You may be wondering, and perhaps even afraid, how this will change over time, and how the symptoms will worsen. In fact, the way this disease progresses varies greatly from person to person. It depends on which of the four types of SMA you have, when the symptoms first started, and what level of physical development you had reached at that time. Let's talk about this simply and clearly today.
How does SMA disease progress?
This disease primarily affects the muscles in the middle of the body, such as the back and hips. This is more pronounced than the muscles further away from the center of the body (such as the fingers and toes).
Think of it this way, the muscles in your thighs, which help you stand, become weaker than the muscles in your legs. Also, weakness in your legs becomes more noticeable before your arms.
Some people may also experience a gradual loss of strength in their hands. However, it is usually the hands that retain the most strength over time. Even if the hands are weak, they may still be able to perform everyday tasks , such as using a computer.
Another major problem that comes with SMA is a curved spine , which we medically call scoliosis . Many children with SMA develop this condition early in life. This is because the muscles that support the spine gradually weaken.
Since scoliosis can cause breathing difficulties, it is very important to talk to your doctor about this regularly and follow the necessary instructions.
A person with scoliosis may experience the following symptoms:
- Shoulders and hips not being at the same level.
- One shoulder is larger or protrudes forward than the other.
- One hip is higher than the other.
This curvature of the spine can cause discomfort and pain. If the curve is severe, it can compress the lungs and affect breathing. Doctors usually try to manage the condition by using a special brace without surgery until the child is fully developed. However, because the curvature of the spine can worsen over time, your doctor will be very attentive to any breathing or movement problems that occur in this regard.
What happens next depends on the type of SMA you have.
Types of SMA and their nature
SMA is divided into four main types. These are classified based on the age at which symptoms begin and the patient's peak physical activity. Let's look at each type separately.
| SMA Type | Age of onset of symptoms | Key features and going forward |
|---|---|---|
| Type 1 (Werdnig-Hoffmann disease) | At birth or before 6 months | Very severe. Without treatment, it is difficult to sit up or control one's head. It is difficult to suckle milk or swallow food. It seems as if one is breathing from the stomach. Severe respiratory infections can occur frequently. |
| Type 2 | Between 6 and 18 months | Can sit up, but cannot walk without help. As they get older, they may need help even to sit up. Tremors may be seen. |
| Type 3 (Kugelberg-Welander syndrome) | After 18 months or at a young age | I can walk. But over time, I often fall, it becomes difficult to climb and descend stairs. It is difficult to get up again after lying on the ground. |
| Type 4 | In their 20s-30s (adulthood) | Rare. Symptoms develop very slowly. You can walk in adulthood, but muscle weakness occurs as you age. |
A little more about Type 1
This is the most severe form of SMA. It is also called Werdnig-Hoffmann disease . It is diagnosed at birth or within the first 6 months. Muscle weakness progresses very quickly. Without treatment, the child will be unable to sit or stand.
The baby may be malnourished due to difficulty sucking and swallowing. Some babies may appear to breathe through their stomachs . This is because the respiratory muscles in the chest are not working properly, so they breathe using only the diaphragm. This can lead to frequent, sometimes life-threatening, severe respiratory problems and infections.
A little more about Type 2
This type is diagnosed between the ages of 6 and 18 months. The rate of progression of the disease varies greatly from one child to another. Children with Type 2 can sit up unaided in the early stages. However, by the time they reach their teens, it may be difficult to sit up unaided.
Also, these children cannot walk more than a few steps without help. Often, their fingers begin to tremble (tremors). Even the tendon reflex may be lost when the doctor taps the knee with a small hammer.
A little more about Type 3
This is also called Kugelberg-Welander syndrome . It is usually diagnosed around 18 months of age, but sometimes symptoms can begin in early adolescence.
The progression of this type of SMA depends on how much movement the child learns. These children can learn to walk. But over time, they start to fall frequently, have difficulty climbing stairs, and have difficulty getting up from a lying position. As with other types of SMA, they are more susceptible to respiratory infections as their muscles weaken.
A little more about Type 4
This is the rarest form of SMA. It is diagnosed in people in their 20s or 30s. The disease progresses very slowly. People with this type can walk as adults, but muscle weakness may gradually increase as they age.
Take-Home Message
- Spinal Muscular Atrophy (SMA) is a disease that weakens muscles over time. However, it does not affect the brain. The patient's intelligence and senses remain normal.
- The type of SMA you or your child has determines how quickly and how severe the disease will be.
- Breathing difficulties and scoliosis are common conditions associated with SMA. These require special attention and medical supervision.
- It is very important to work closely with your doctor to manage the disease, attend clinics on time, and follow the instructions given.
- Modern treatments have significantly improved the quality of life and lifespan of SMA patients, so never give up hope.
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