What are the causes of Spinal Muscular Atrophy?

Spinal Muscular Atrophy is a congenital disease. This means that if a child has SMA, they likely received two copies of a defective gene from each parent. As a result, a particular type of protein cannot be synthesized in the body. This protein is called SMN, which stands for Survival of Motor Neuron, and it is crucial for the normal function of motor neurons. If someone has only one defective gene, they will be a carrier of the disease and might pass this faulty gene to their children.

What are the symptoms of Spinal Muscular Atrophy?

The symptoms of Spinal Muscular Atrophy depend on the type of SMA:

The most severe type is Type 1. Individuals with this condition require support for head control and sitting. Due to the high level of muscle weakness caused by this type of SMA, patients are often unable to breathe independently. As a result, children with this type typically do not live beyond two years of age.
Type 2 SMA is referred to as chronic infantile SMA. It predominantly affects children aged 6-18 months. This type of SMA primarily affects the legs. Children with Type 2 may walk, sit, or stand only with the help of support.
Type 3 SMA primarily affects children between the ages of two and seventeen years. Known as juvenile SMA, children with this type can walk, sit, and stand without support but might struggle to run, climb, or rise from a chair. They may require a wheelchair in the future.
Type 4 SMA generally begins in adulthood. Symptoms include muscle twitching, muscle weakness, or difficulty breathing.

Essential information about spinal muscular atrophy.