Spinal muscular atrophy (SMA) is a type of a genetic disorder which is characterized by deteriorating motor neurons, wherein the nerve cells responsible for the movement of voluntary muscles get affected due to this disorder. There are many types of SMA. These are mainly divided mainly based on the age of onset, the gene affected as well as the severity of the symptoms. This article elaborates upon a primary type of SMA: SMA type 0:

1. What is SMA type 0?

This type of SMA is also known as prenatal onset SMA and is the most severe type among them. Typically, babies get this disorder in the womb itself; hence, the term prenatal is associated with it. While it can prove to be fatal before the baby is born, in most cases, these babies may only live up to a year or less.

2. Cause
All cases of SMA occur due to genetic mutations in a particular gene. This gene is SMN1 and it is responsible for providing instructions to produce a particular protein. This protein is crucial for our primary motor neurons to survive. Hence, when this production gets hampered, it can result in this genetic disorder.

3. SMA type 0 Symptoms

Typically, doctors detect SMA type 0 in the womb itself. Unhealthy movements of the fetus are one of the very first symptoms. Additionally, some more signs can be seen at birth which include the following:

• Breathing abnormalities
• Joint problems
• Swallowing difficulty
• Respiratory failure

Symptoms of SMA type 0 start to occur during the later stages of pregnancy. Babies affected with this type do not show healthy movements either as compared to other babies of their age.

4. Diagnosis

Typically, the first and foremost tool for testing the presence of SMA type 0 is through genetic analysis. As established, SMA occurs due to genetic mutation in the SMN1 gene. Depending on the severity of the mutation, the type of SMA is decided. For SMA type 0, a gynecologist may be able to detect fetal movements in the womb also. In very few cases, doctors may have to undertake an MRI (Magnetic Resonance Imaging) or a muscle biopsy to better understand the effects.

5. Treatment

Unfortunately, there is no fixed cure available for any of the types of SMA. However, there are ways to manage this problem, so that the affected baby can live in an easier manner. Doctors may put the baby on feeding tubes and breathing aids for better management. Additionally, medical experts recommend families to undergo counseling sessions to be able to manage this issue better. In some cases, even genetic counseling may be required to understand the cause of the problem thoroughly.
The most unfortunate reality associated with this type of SMA is that most infants succumb to it before they reach six months of age. These deaths typically occur between the ages of two to six months old.