Causes and Treatments for Spinal Muscular Atrophy

Causes and Treatments for Spinal Muscular Atrophy

Spinal muscular atrophy is a classification of genetic disorders in which a person does not have the power to control the movement of their muscles due to a loss of nerve cells in the spinal cord. In this condition, one suffers from the loss of nerve cells in the spinal cord, called motor neurons, which is why it is categorized as a motor neuron disease. It most often affects babies and children, making it difficult for them to use their muscles. There are some treatment options for spinal muscular atrophy in the form of medications and therapy, but these only help manage it, they do not cure it completely.

Causes of spinal muscular atrophy

  • Spinal muscular atrophy occurs when motor neurons in the spinal cord do not work or stop working due to changes in genes called survival motor neuron 1 (SMN1) and SMN2.
  • It is a disease that passes down through families. A child has it because they got two copies of a broken gene and one from each parent.
  • The geneses are what provide instructions to make the protein that is required for the functioning of motor neurons.
  • A problem with SMN1 will lead to SMA. An issue with SMN2 will affect the type and severity of the disease.
  • An individual can only have the condition if both of their parents have problems with this gene.

Treatment options for spinal muscle atrophy
There are two commonly used medications for the treatment of spinal muscular atrophy which are nusinersen (Spinraza®) and onasemnogeneabeparvovec-xioi (Zolgensma®). These essentially increase the production of SMN, both types of it, thereby helping keep the condition under control.

  • Nusinersen (Spinraza®): One of the treatment options for spinal muscular atrophy, it regulates the SMN2 gene and allows it to make more protein. This treatment is used for children as well as adults with the condition. A doctor injects the drug into the fluid around their spinal cord. This treatment can take at least 2 hours, every time a dosage is needed, including preparation and recovery time and after the first two months, it is administered once every four months.
  • Onasemnogeneabeparvovec-xioi (Zolgensma®): This is a gene therapy used to treat the condition and is used for children under two years. The medical team puts a tiny tube known as a catheter directly into a vein in their arm or hand (an IV) and sends a copy of the SMN gene through it into a certain group of motor neuron cells. This treatment only requires to be done once.

Aside from this, breathing exercises and physical therapy are also good treatment options for spinal muscle atrophy. Breathing exercises strengthen the breathing muscles and make coughing easier and physical therapy involves water therapy and wheelchair sports. Every child or adult who has the condition has a different experience; it is necessary to make a treatment plan as per their symptoms so that they have a better quality of life.