Category: Spine | Author: Stefano Sinicropi
Spinal muscular atrophy (SMA) is a genetic condition in which the motor neurons are not allowed to properly develop, leading to mobility issues and muscle deterioration. Here we will talk briefly about the causes, signs, and treatment options of this genetic condition.
What Causes Spinal Muscular Atrophy?
Spinal muscular atrophy is caused by a mutation of the SMN1 gene. In other words, the condition is inherited from the family gene pool. The SMN1 gene is responsible for coding motor neuron protein – an essential element in the development of our motor neurons.
Signs of SMA
Spinal muscular atrophy can manifest itself in a number of ways. Some of the common signs and symptoms include the following:
- Muscle weakness
- Poor reflexes
- In infants – an inability to reach milestones such as standing and walking
- Decreased strength in the respiratory muscles
- Head that tilts to one side inadvertently
- Difficulty swallowing
Symptoms of SMA can appear as early as infanthood, which is why it is important to keep an eye out for these signs in your child. In rarer cases, adults can also develop the condition later in life.
Because spinal muscular atrophy is a genetic condition there is no known cure. However, there are numerous treatments available that can help alleviate symptoms of the condition. Physical and occupational therapy can be a great way to help patients learn to deal with the condition. A spinal fusion can sometimes help if the spine is putting too much pressure on the lungs. Depending on the extent of the atrophy other treatments revolving around respiratory care and nutrition may also be beneficial. Many people who carry the SMA-inducing gene mutation are not even aware of it. If you notice any of the signs of SMA in yourself or your child, see your doctor to discuss diagnosis and treatment.