Spinal Muscular Atrophy – Types and Treatment

Spinal Muscular Atrophy – Types and Treatment

Spinal muscular atrophy (SMA) is a genetic disease that affects the motor neuron cells in the spinal cord and brain. These nerve cells send electrical signals to the muscles to help them function. However, when there are no signals in the nerves, the muscles shrivel and weaken and may stop working altogether. It causes severe problems, such as difficulty in breathing, walking, sitting, and turning even your head and neck.

This condition is most common in children. Some types of spinal muscular atrophy may affect teenagers and young adults but they are not that severe. Spinal muscular atrophy is caused by a genetic mutation of the survival motor neuron gene which produces the survival motor neuron proteins essential for muscle function. The treatment options for spinal muscular atrophy are aimed at managing the symptoms and improving the quality of life.

Types
The different types of SMA are:

  • Type 1
    This SMA is the most common one and is also the most severe. It usually presents itself at birth or 6 months after. Children may experience complications such as breathing problems, flaccid limbs, and general motor functions. This type of spinal muscular atrophy usually leads to an early death.
  • Type 2
    This condition usually manifests itself much later than Type 1 SMA. Symptoms may appear as late as 18 months after birth. It affects the leg muscles more than the arms. The affected person may not lead a long life or survive well into adulthood.
  • Type 3
    This is a mild variation of spinal muscular atrophy which can manifest at any time between early childhood to adulthood. People affected by Type 3 SMA can walk and stand like a healthy person, but they might face difficulties while trying to get up from a seated position. Breathing difficulties and muscle fragility are common complications, too. They, however, have a normal lifespan.
  • Type 4
    This is the rarest type of spinal muscular atrophy. Unlike the other types, this manifests itself during adulthood. People who can walk on their own may experience muscle weakness. Since this is a relatively mild disease, the life expectancy is normal and motor functions can be improved with therapy. The treatment options for spinal muscular atrophy are based on the type of SMA.

Management
Management techniques for SMA include:

  • Assisted breathing
    In this method, air is supplied to the affected person through a mouthpiece. When this procedure is not possible, tracheostomy is performed. In this, a hole is made in the windpipe through which air is supplied to the patient.
  • Assisted feeding
    A feeding tube can be used for patients who have trouble swallowing. It allows liquid food inside the stomach, providing nutrition.
  • Spinal support
    A brace or some kind of support for the spine is used for children who have a curvature in the spine and have trouble sitting or lying down.

It is not possible to cure SMA, but with the right treatment options for spinal muscular atrophy, the symptoms can be managed well, improving life expectancy and motor functions.