Spinal Muscular Atrophy, or SMA, is an inherited, genetic neuromuscular disease. This disease causes the muscles to become weak over time and eventually waste away.
It is worth noting that the instances of SMA are rare. However, one in 6000 to 10000 children may develop SMA. If affected with SMA, patients lose their motor neurons.
Wondering what motor neurons are? Read along to find out.
Motor Neurons
A motor neuron is a specific type of cell found in the spinal cord. Motor neurons are responsible for muscle movement. Without them, the muscles don’t receive the signal that makes them move.
Atrophy
Atrophy is a medical term. It refers to the decrease in the size of a body part. In patients with SMA, certain muscles get atrophied due to lack of use.
Who can get SMA?
The faulty gene in a person with SMA is the survival motor neuron 1 gene (SMN1). Humans have two copies of this gene. Some have one defective gene amongst the two. Having only one of the two gene copies of the faulty gene does not cause SMA. Such a person can function normally but can cause the condition in his children. Such a person is called a carrier. He may not even know that he is a carrier.
For a person to get SMA, both of their copies of the gene must be faulty. This can happen if both their parents are carriers. However, this doesn’t happen in all such cases. The chance of getting SMA with both parents as carriers are only 1 in 4.
Types of SMA
Four primary types of SMA have been documented.
Type 1 (Severe)
This type is found in about 60% of people with SMA. This is also called Werdnig-Hoffman disease. Symptoms may appear either at birth or within the first six months of life. Infants with type 1 SMA have difficulty swallowing and sucking. They are unable to meet typical growth milestones like holding up their heads or sitting. As their muscles continue to weaken, children become more prone to collapsed lungs and respiratory infections. Most children with type 1 SMA lose their lives before they turn 2.
Type 2 (Intermediate)
Symptoms of type 2 SMA appear when a child is between six months and 18 months old. This is also called Dubowitz disease. This type tends to affect the lower limbs of these children. Children with type 2 SMA may be able to sit up but can’t walk. Most children with type 2 SMA live into adulthood.
Type 3 (Mild)
Symptoms of type 3 SMA appear after a child’s first 18 months of life. This is also called Kugelbert-Welander or juvenile-onset SMA. Some people with type 3 SMA don’t exhibit signs of the disease until early adulthood. Type 3 symptoms include frequent respiratory infections, difficulty walking and mild muscle weakness. Over time the symptoms can affect the ability to stand or walk. Type 3 SMA doesn’t significantly shorten life expectancy.
Type 4 (Adult)
This is a rare adult form of SMA. Muscle weakness symptoms progress very slowly. This doesn’t typically appear until the patient is in their mid-30s. Most people with type 4 SMA remain mobile and active through most of their lives.
Symptoms of SMA
SMA symptoms can manifest in different ways depending on the type of SMA. A general observation is that people with SMA experience a gradual loss of muscle control. They also experience a progressive loss of movement and strength. Muscle loss gets worse as age increases. SMA tends to affect the muscles near the torso and neck severely. Some people with the disease may never walk, sit or stand. Others may gradually lose their ability to perform these actions.
Medical Conditions can spring a nasty surprise on our sense of normalcy
SMA is a relatively rare medical condition. However, it is real and can spring a major surprise upon us. Our normal lives can be turned around knowing that a loved one is diagnosed with SMA.
And then there are the not so rare conditions like contracting covid. For example, a covid infection in the family also springs a nasty surprise on us.
You are Aware but are you Prepared?
The truth is, we may be aware outwardly but are never really prepared for medical conditions. Given this, our best bet and shield from such surprises is a medical insurance application. And you can do it now, online.
Take Action: Apply for Medical Insurance Online
Being aware of the possibility of medical emergencies is not enough. You have to take concrete action. And that is applying for medical insurance online on a website or app that you trust.
Facilities
Apply for health insurance to avail a bunch of facilities. Like the pre-hospitalisation cover, hospitalisation cover, post-hospitalisation cover and cashless hospitalisation. It can be your shield from nasty medical surprises.
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