Can spinal muscular atrophy be treated?

Is your child suffering from spinal muscular atrophy? This is an inherited disease that impairs the person’s nerves that control the muscle’s movement. Most commonly it is found in babies, but it can also start in adulthood. Currently, there is no cure available. But with the latest research, there is treatment available that can manage its symptoms and improve its complications.  

Learn more about those treatments in this article.  

Spinal muscular atrophy is a rare disease that affects infants or adults. This disease causes a loss of the motor neurons that control your muscle movements making them weak and waste away (without the motor neurons, the signal never transfers to muscle to do the movement). Atrophy means wasting away in medical terms. Muscles become weaker and smaller due to lack of use.  

This disease happens by mutation of genes. Genes can be faulty or missing. If the child has SMA (Spinal Muscular Atrophy), he carries a pair of defective genes, one from each parent. If they get only one gene from you, they won’t get SMA, instead, they become the carrier of these genes to their child. This gene doesn’t allow to make a specific protein that is required for neurons without which they die. 

SMA symptoms depend on the types of SMA you have. Symptoms usually look like this: 

• Muscle weakness such as problems in standing, walking, talking, eating, swallowing, etc. 
• Breathing problems such as weak or underdeveloped lungs, cough, shortness of breath, etc.  
• Respiratory infections such as pneumonia.  
• Scoliosis (bending of your spine). 

Although, there is no cure. There is some treatment available that helps to manage its symptoms and improve your condition.  

Treatment  

Even though there is no cure available right now, there are a few treatments depending on the type of SMA you have and its symptoms. In some cases, it is recommended to take combinations of treatments.  

There are 3 drugs that are currently FDA (Food and Drug Administration) approved to treat SMA. 

1. Nusinersen (Spinraza): This drug was approved in 2016 to treat all forms of SMA in children and adults. It is given as a one-time treatment in the form of an injection. They inject the drug into the fluid that surrounds the spinal. It is an antisense oligonucleotide that increases the production of full-length SMN protein in the body and it is beneficial for 40 percent of patients, especially with Type 1 infant onset SMA.  
2. Onasemnogene abeparovec-xioi (Zolgensma): This is a gene therapy approved in 2019 to treat SMA only in children under 2 years of age. This gene therapy uses a viral vector to replace the missing genes with functional ones. 
3. Risdiplam (Evrysdi):- This drug is approved in 2020 to treat children between the age of 2 months and older. It is a small molecule SMN splicing modifier that should be given to them orally. 

• If children or infants have problems swallowing it is recommended that they use a feeding tube to send food directly into their stomach through the nose down the throat. Food is required for their body to grow and develop.  
• If children have breathing problems a suction tube or oxygen mask can be used. Breathing exercises can be helpful to strengthen the breathing muscles or make coughing easier. To prevent pneumonia or flu, it is recommended that you give vaccination to your children.  

Some therapies that are useful to strengthen the weakened muscles and help with independence for people who are living with SMA include: 

• Occupational therapy 
• Physical therapy 
• Rehabilitation 
• Assistant devices like wheelchairs, braces, and orthotics.  

New treatment research has been going on. Many researchers suggest combinations of treatments will be most helpful. There are several treatments that are under investigation. These include: 

• Correcting the SMN1 gene: This research is done by the Pharma company that manufactures the drug zolgensma. They plan to use DNA editing technology to convert the SMN2 gene into the SMN1 gene. This research is in its initial stages and looks promising; it can be an effective cure for treatment.  
• Modifying SMN2 genes: Research and clinical trials are going on a drug called branaplam which can increase the number of functions that protein does in SMN2. This drug is in phase 1 or phase 2 trials in infants with SMA 1. They also tested another drug known as E1v1.11, which can treat all types of SMA by using a person’s own genome to increase the production of SMN protein. 
• Targeting muscle function: Astellas Pharma is developing a drug called reldesemtiv, which is a fast skeletal muscle troponin activator (FSTA) that increases the ability of skeletal muscles to contract. This drug is in phase 2 clinical trials with all types of SMA. This muscle function drug doesn’t fix the genetic problem caused by SMA, instead, it improves muscle functionality with the combination of other therapies that work on SMN genes. 
• Protecting motor neurons: Researchers are trying to look for new therapies that can prevent motor neurons from going dysfunctional.  

If this research is successful, we are likely to be able to use them with other treatments to solve the genetic problems in SMA. 

When it comes to the treatment of SMA patients, timing is very crucial. Children get benefits that immediate treatment after diagnosis, compared to those who wait. Newer treatments will be approved soon offering to improve motor functions and prolong life for people who have the most severe symptoms.  

While there is no cure for SMA. But with current research and technology, the scenario will change quickly.
 

Want to know how to diagnose the SMA in your child?

At Doral Health and Wellness, we have doctors that can help you manage your condition. For more information, you can visit us at 1797 Pitkin Avenue, Brooklyn, New York, 11212, or call us at 1-347-384-5690. You can also visit our website at https://doralhw.org or contact us at info@doralhw.org if you have any queries.