Spinal Muscle Atrophy (SMA) is a rare genetic disorder that affects the spinal cord and causes muscle weakness and atrophy. It affects approximately 1 in every 6,000 to 10,000 children, making it one of the leading genetic causes of infant mortality.

The Current Standard of Treatment

For many years, the standard of treatment for children with SMA has been symptomatic and supportive care.

This involves physical therapy, rehabilitation, and respiratory support, including BiPAP (Bilevel Positive Airway Pressure), cough assist, and mechanical ventilation. While these treatments can help manage some of the symptoms of SMA, they do not address the underlying cause of the disease, which is a deficiency of the survival motor neuron (SMN) protein.

New Treatment Options

Recently, there have been significant advancements in the treatment of SMA, including innovative therapies that target the underlying cause of the disease. One such therapy is called Spinraza (nusinersen), which was approved by the U.S.

Food and Drug Administration (FDA) in December 2016.

Spinraza

Spinraza is a medication that is injected into the spinal fluid to increase the production of SMN protein. In clinical trials, Spinraza has been shown to improve muscle function, increase survival, and improve quality of life in children with SMA.

While Spinraza does not cure SMA, it is the first treatment that has been shown to significantly slow the progression of the disease.

Zolgensma

Zolgensma is another innovative therapy that has recently been approved by the FDA. It is a gene therapy that replaces the missing or defective SMN1 gene with a functional copy of the gene.

In clinical trials, Zolgensma has been shown to improve motor function and increase survival in children with SMA. Zolgensma is a one-time treatment, and the effects can be long-lasting.

Physical Therapy and Rehabilitation

In addition to these innovative therapies, there is also a strong emphasis on physical therapy and rehabilitation for children with SMA.

Physical therapy can help children with SMA maintain muscle strength, improve their range of motion, and learn new skills. Rehabilitation can also help children with SMA to adapt to their environment and improve their overall quality of life.

Assistive Devices

Assistive devices such as braces, wheelchairs, and walkers can also be used to help children with SMA maintain their mobility and independence. These devices can help children with SMA to walk, play, and participate in daily activities.

The Importance of Early Diagnosis and Treatment

Early diagnosis and treatment are essential for children with SMA. Research has shown that early intervention can improve outcomes and increase survival in children with SMA.

It is important for parents and healthcare providers to be aware of the signs and symptoms of SMA, which can include muscle weakness, respiratory difficulties, and delayed motor development.

The Future of SMA Treatment

As research continues, it is likely that more innovative and effective treatments for SMA will be developed. The development of new therapies and the improvement of existing ones offer hope for children with SMA and their families.

While SMA is a challenging and life-altering condition, there is reason to be optimistic about the future.

The Importance of Support and Advocacy

For families and children affected by SMA, support and advocacy are critical. There are many organizations that provide support, resources, and information about SMA, including the SMA Foundation, Cure SMA, and Muscular Dystrophy Association.

Advocacy efforts can also help to raise awareness of SMA and promote funding for research into new and innovative therapies.