Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease that affects the motor neurons of the spinal cord. It is the leading genetic cause of infant mortality, with an incidence rate of 1 in 10,000 live births.

SMA can cause motor milestone delays, and in severe cases, it can result in paralysis, respiratory distress, and even death.

Early treatment is crucial to preventing motor milestone delay in SMA. In this article, we will explore the importance of early treatment and the various treatment options available for SMA.

What Causes Motor Milestone Delay in SMA?

Motor milestone delay is a common symptom of SMA, and it is caused by the degeneration of motor neurons in the spinal cord. Motor neurons are responsible for transmitting signals from the brain to the muscles, allowing us to move and carry out tasks.

In SMA, the degeneration of motor neurons leads to muscle weakness and atrophy, making it difficult for babies and young children to achieve motor milestones, such as sitting, crawling, and walking.

The severity of motor milestone delay in SMA depends on the type of SMA that the individual has. There are four types of SMA:.

Type 1 – also known as Werdnig-Hoffmann disease or infantile-onset SMA. It is the most severe form of SMA and is usually diagnosed before 6 months of age. Babies with Type 1 SMA have very weak muscle tone and are unable to sit or stand without support. They may also have difficulty breathing and swallowing, and the majority of infants with Type 1 SMA do not survive past the age of 2 years.
Type 2 – also known as intermediate SMA. It is less severe than Type 1 SMA and is usually diagnosed between 6 and 18 months of age. Children with Type 2 SMA can sit without support but are unable to stand or walk independently.
Type 3 – also known as Kugelberg-Welander disease or juvenile-onset SMA. It is the mildest form of SMA and is usually diagnosed between 2 and 17 years of age. Children with Type 3 SMA can stand and walk independently, but they may experience muscle weakness and atrophy, making it difficult for them to carry out certain tasks.
Type 4 – also known as adult-onset SMA. It is the rarest form of SMA and is usually diagnosed after the age of 30. Individuals with Type 4 SMA may experience muscle weakness and atrophy, making it difficult for them to carry out certain tasks, but they can usually walk independently.

The Importance of Early Treatment

Early treatment is essential to preventing motor milestone delay in SMA. The earlier that treatment is administered, the better the chances of preserving motor function and preventing the progression of the disease.

Early treatment can also improve overall quality of life and increase life expectancy.

There are various treatment options available for SMA, and each treatment option has its own benefits and risks. Early treatment may involve a combination of therapies, including:.

Gene Therapy

Gene therapy is a relatively new treatment option for SMA, and it involves replacing or repairing the faulty gene responsible for SMA.

This treatment aims to restore motor function by increasing the production of SMN protein, which is necessary for the survival of motor neurons. Gene therapy can be administered through a single injection, and it has shown promising results in clinical trials. However, this treatment is still experimental, and further research is needed to determine its long-term efficacy and safety.

Spinraza

Spinraza is a treatment option that involves injections of the drug nusinersen. This drug works by increasing the production of SMN protein, which is necessary for the survival of motor neurons.

Spinraza is administered through a series of injections into the spinal fluid, and it has shown promising results in clinical trials. However, this treatment can be expensive, and the injections may need to be administered for the rest of the individual’s life.

Zolgensma

Zolgensma is a gene therapy treatment option that involves replacing or repairing the faulty gene responsible for SMA. This treatment has shown promising results in clinical trials, and it is administered through a single infusion.

However, this treatment is currently only available to infants under 2 years of age, and it can be expensive.

Physical Therapy

Physical therapy is a form of treatment that involves exercises and activities to help improve muscle strength, flexibility, and motor function.

Physical therapy can be used in conjunction with other treatments, such as gene therapy and Spinraza, to enhance the overall effectiveness of the treatment plan. Physical therapy can also help prevent contractures, which occur when the muscles become permanently shortened and stiff, making it difficult to carry out certain tasks.

Occupational Therapy

Occupational therapy is a form of treatment that focuses on improving an individual’s ability to carry out daily tasks, such as dressing, bathing, and eating.

Occupational therapy can help individuals with SMA achieve independence and improve their overall quality of life. This therapy may involve the use of assistive devices, such as braces or wheelchairs, to help the individual carry out certain tasks.

Speech Therapy

Speech therapy is a form of treatment that focuses on improving an individual’s ability to speak and swallow. Individuals with SMA may experience difficulty with speaking and swallowing, which can lead to respiratory distress and malnutrition.

Speech therapy can help improve these functions and prevent complications.

Conclusion

Early treatment is crucial to preventing motor milestone delay in SMA. There are various treatment options available, including gene therapy, Spinraza, Zolgensma, physical therapy, occupational therapy, and speech therapy.

Each treatment option has its own benefits and risks, and treatment plans may vary depending on the severity of the disease and the individual’s age. With early treatment and comprehensive care, individuals with SMA can achieve independence and improve their overall quality of life.