Spinal Muscular Atrophy – Symptoms and Effective Treatment Options

Spinal Muscular Atrophy – Symptoms and Effective Treatment Options

Spinal Muscular Atrophy (SMA) is a condition that usually impacts infants and children. The nerve cells in the spinal cord and brain experience a breakdown, impacting the brain’s ability to send messages that regulate muscle movement. So, one must educate themselves about the early signs and popular treatments for SMA to facilitate early diagnosis and ensure timely treatment for the condition.

Early signs
Here are some of the warning signs that one should know about:

  • Hypotonia
    Hypotonia results in low limb movement, tremors, difficulty swallowing, poor tendon reflexes, and weakened breathing. These signs usually show up in children below the age of 2 years, and patients are unable to sit or stand without support. Also, most children with the condition are unable to survive due to respiratory failure.
  • Limited movement
    This is the intermediate form of SMA that occurs between the ages of 6 and 18 months. At this stage, children can sit but fail to walk or stand without support. Some may even experience breathing difficulties with a heightened risk of respiratory disorder. The life expectancy of children at this stage is low, but survival may also be well into young adulthood.
  • Difficulty in movement
    Tremors make it difficult for patients to run, climb steps, or even rise from their chairs. Chronic shortening of tendons and muscles and scoliosis are common complications that prevent the free movement of the joints. Children may also struggle to move their arms, legs, face, and tongue.
  • Regression
    When one notices that their child is not taking an interest in any activity or seems to be losing their abilities, it’s best to contact a pediatrician immediately.

Treatments
There is no cure available for SMA, and the condition cannot be prevented. At the same time, the following treatment options can help patients lead a quality life by managing the symptoms:

  • Assistive therapy
    Multiple assistive devices can improve a child’s life expectancy and quality of life if they are diagnosed with SMA. Ventilators and mechanic wheelchairs help people live longer and be more active.
  • Gene therapy
    A specific medication called Zolgensma is a type of gene therapy administered to babies under the age of 2 years for treating SMA. Researchers are also trying to find other treatment options for SMA using gene replacement therapy to remove impaired motor neurons to restore mobility.
  • Medication
    DMT is a medication for SMA that helps curb the debilitating effect of the disease and helps patients feel more positive about their life with this condition.

Staying informed about the early signs and popular treatments for SMA helps both the patients and caregivers to manage the condition more effectively.