Spinal muscular atrophy affects infants and children, making it difficult for them to utilize their muscles. The condition, also known as SMA, is caused due to lack of communication between the spinal cord and brain. As a result, the individual’s brain stops communicating with the muscles to regulate their movement. If your child has SMA, then you must read this article to know about the diagnosis and treatment options for spinal muscular atrophy or SMA.  

Diagnosis tests
SMA is considered to be a hazardous health condition because its symptoms are hard to detect. To diagnose the problem, your doctor may ask you a few questions about your child. You will have to provide details, such as whether they have missed a milestone, if they have trouble sitting, do they struggle to breathe normally, or if anyone else in the family has suffered from similar symptoms. Additionally, the doctor will also order some tests to make a diagnosis. For example, they will take the child’s blood sample to look for missing genes that can cause SMA. Your doctor may also check for creatine kinase (CK), an enzyme that leaks from weak muscles. If the level of CK in their blood is high, it usually indicates damage to muscles.

The various tests that are used to diagnose SMA include:

1. Nerve tests
Your doctor will put tiny patches on your child’s skin to run some electrical pulses through their nerves. It helps them determine if the nerves are sending messages to their muscles.

2. MRI
These scans use radio scans and magnets to reveal the internal workings of your child’s organs.

3. Muscle tissue biopsy
The doctor uses a needle to remove muscle cells for further examination.

4. CT scan
This powerful X-ray can give detailed information about what is happening inside your child’s body.

Treatment options for spinal muscular atrophy 

1. Evrysdi™
It is an oral treatment prescribed to all SMA patients that are older than 2 months. This treatment received FDA approval in Aug 2020. Everysdi™ helps in treating SMA by increasing the functional SMN proteins.

2. Spinraza®
This treatment is used in both adults and infants. It can enhance the production of the SMN2 gene to develop SMN protein.

3. Zolgensma®
This gene therapy utilizes a genetically-engineered virus to develop the SMN1 gene to increase the levels of useful proteins. It can be used in patients older than 2 years.

4. Muscle relaxants
Doctors can prescribe muscle relaxants to ease spasms when the muscles become tense.

5. Physical therapy
This therapy helps in preserving muscle strength and enhances the range of motion for patients with SMA. However, too much exercise can be harmful and can cause further damage. So, discuss the exercise plan with your physical therapist before embarking on a workout routine.

6. Occupational therapy
An occupational therapist can work with you to recommend assistive equipment that helps patients remain independent. These can include braces, orthotics, wheelchairs, etc.

Apart from these treatment options for SMA, the doctors may also recommend nutritional and breathing treatments to help manage your symptoms.