Spinal muscular atrophy (SMA) is a lesser-known genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and, eventually, wasting away. It is one of the leading genetic causes of death in young children and can devastate families. Despite this, many people do not understand SMA and how it impacts its patients. This article will shed light on the reality of SMA and how we can all help make a difference.

What it is
Spinal muscular atrophy (SMA) is a rare genetic disorder that affects the motor neurons in the spinal cord and brain stem, causing progressive muscle weakness and wasting. It is caused by a mutation in a gene called Survival Motor Neuron 1 (SMN1).
With SMA, muscles lose their strength because of a lack of stimulus from these motor neurons, which control voluntary action. As such, this condition can cause progressive debilitation, including difficulty walking or breathing and eventual paralysis of limbs and body parts.

Spinal muscular atrophy symptoms
Spinal muscular atrophy primarily affects infants and young children but can manifest later in life. The following symptoms of spinal muscular atrophy can vary depending on the type and severity of the disease.

• Muscle weakness: Muscle weakness is the most noticeable symptom of spinal muscular atrophy. This can cause difficulty in sitting, crawling, walking, and breathing.
• Decreased muscle tone: People with SMA often have decreased muscle tone due to muscle weakness, which can lead to a limp or floppy appearance.
• Poor coordination: Children with SMA may experience difficulty coordinating their movements due to muscle weakness and decreased muscle tone.

Spinal muscular atrophy diagnosis

One of the biggest challenges with spinal muscular atrophy is its diagnosis. While the disease may begin to manifest in infancy, it is not uncommon for diagnosis to be delayed until later in life. These are some of the few tests that can help with diagnosis :

• Genetic test: This test looks for changes in the SMN1 gene that can cause SMA. It is a very effective way of diagnosing SMA.
• Nerve conduction test: This test measures the electrical activity in muscles. People with SMA typically have low levels of muscle activity.
• Blood test: This test looks for a deficiency in a protein called SMN. People with SMA have low levels of this protein.
• Biopsy: A small piece of muscle tissue is removed and examined under a microscope to see if there are any signs of SMA.
• CVS: Chorionic Villus Sampling (CVS) is done during pregnancy and looks at the genetic makeup of the fetus. If there are changes in the SMN1 gene, it may indicate that the fetus has SMA.
• Amniocentesis: This test is also done during pregnancy and involves taking a sample of the amniotic fluid. This fluid is then analyzed for genetic changes that may indicate SMA.

The diagnosis of SMA can be difficult, and the delay in diagnosis can lead to further complications. It is essential to consult a medical professional if symptoms point toward this condition. Early diagnosis can lead to better treatment options and an improved quality of life.

Spinal muscular atrophy treatment
When it comes to spinal muscular atrophy, these are the following treatment options that help improve the quality of life for those affected.

• Gene replacement therapy: This treatment involves replacing the faulty SMN1 gene with a healthy one, effectively increasing the levels of the SMN protein that are crucial for motor neuron function. This therapy has shown promising results in clinical trials but is still in the early stages of development and is currently only available to a small number of patients through clinical trials.
• Symptomatic therapy: This type of treatment aims to manage the symptoms of spinal muscular atrophy rather than the underlying genetic cause. Examples of symptomatic therapy include physical therapy, occupational therapy, respiratory support, and assistive devices like braces and wheelchairs.
• Disease-modifying therapy: This type of treatment aims to slow down or stop the progression of the disease by targeting the underlying biology of spinal muscular atrophy. Currently, two FDA-approved disease-modifying therapies are available for spinal muscular atrophy that help increase the production of the SMN protein.

Ways to support those with spinal muscular atrophy
It’s crucial to remember that those with SMA need support and assistance in many aspects of their daily lives. Here are some ways to support those with SMA:

• Spread awareness: One of the most effective ways to support those with SMA is by spreading awareness. Share information about the condition with your family and friends, post it on social media, and encourage others to do the same. The more people know about SMA, the more support those with the condition will receive.
• Participate in fundraising activities: There are several organizations and foundations that work towards finding a cure for SMA. One can participate in fundraising events, donate money, or volunteer time to help those with SMA.
• Make accommodations: Individuals with SMA may need special accommodations to live a comfortable life. These can include wheelchair ramps, specialized medical equipment, or mobility devices. Be sure to make any necessary accommodations if one is hosting a patient with SMA.
• Listen and empathize: Living with SMA can be physically and emotionally challenging. Make an effort to listen and empathize with those who are affected by the condition. Offer a supportive ear and be willing to learn more about SMA to better understand what they’re going through.