Spinal Muscle Atrophy or SMA is a disease wherein the central nervous system, peripheral nervous system, and voluntary muscle movement or skeletal muscle on an individual are affected. The spinal cord holds the nerve cells responsible for controlling the muscles. SMA is a motor neuron disease as it results in the loss of nerve cells known as motor neurons.

Here are the causes and diagnosis of SMA.

Causes of SMA
SMA or spinal muscular atrophy is genetic and is caused only when both parents carry the genetic mutation. Only then will the child have SMA. It is an autosomal recessive disease that is affected if a child has SMA is the ‘survival of motor neuron’ gene. It has been observed that in 95 out of 100 cases, the SMN1 gene is missing both its copies. Having a history of SMA in the family significantly increases the chances of developing SMA.

In case both the parents have SMA, the chances of SMA being developed in the child are one in four. This means that there’s a 25% chance in each pregnancy that the child will develop SMA.

Several other factors are still unknown but might contribute to the development of spinal muscle atrophy.

Diagnosis for SMA
At times, SMA can get difficult to diagnose because the symptoms developed are often similar to symptoms of other diseases. There are certain questions that the doctor may ask you some questions about the baby to diagnose the condition, like whether the baby has missed a significant developmental milestone like holding up the head and whether the baby has trouble standing or even sitting on his own. Other important questions like whether the child has difficulty breathing, the first occurrence of symptoms, and family history of the condition are also important. The causes and diagnosis of SMA are linked, and thus knowing the answer to the questions is important.

The doctor may also order some blood tests. These are to check for broken genes that can be the cause of SMA. Also, blood tests rule out the possibility of other conditions with similar symptoms. The tests conducted by the doctor include EMG or electromyogram, CT or computed tomography, MRI or magnetic resonance imaging, and muscle tissue biopsy.

Feel free to ask your doctor some questions about yourself. You must know if the doctor has treated other patients with similar conditions. If not, it’s better to visit a specialist. Know the recommended treatments and whether any therapy can help with the treatment of the condition and keep muscles strong. Also, understand how you can check with others in the family who also have the same condition.