Spinal Muscular Atrophy (SMA) is a serious and rare genetic disorder that affects the motor neurons of the spinal cord and causes progressive muscle weakness and paralysis. It is one of the leading genetic causes of death in infants and young children, and it can also affect adults.

SMA is caused when a gene called SMN1 is missing or defective. This gene is responsible for producing a protein called survival motor neuron (SMN) protein, which is required for the normal functioning of nerves that control muscle movement. The absence of SMN protein leads to the death of motor neurons, resulting in muscle weakness and paralysis.

In most cases, the disease is caused by a mutation in the SMN1 gene. This means that one or both copies of this gene are missing or contain errors. In rare cases, SMA can be caused by a mutation in the SMN2 gene. Both types of SMA are inherited in an autosomal recessive pattern - this means that a person must have two copies of the defective gene to develop the condition.

Common symptoms of SMA include difficulty with movement, muscle weakness and fatigue, as well as scoliosis (curvature of the spine), feeding difficulties, and respiratory complications. Unfortunately, there is no cure for SMA, and treatments focus on managing symptoms and preventing further complications. These include physical therapy to keep muscles supple and strong, the use of assistive devices to help with movement, and medication to help with respiratory and eating difficulties.

Due to advances in research and treatment, people living with SMA can now enjoy improved quality of life and longer life expectancy. With continued support and awareness, we can hope to see even more progress in the future and a day when SMA can be eradicated.