Spinal Muscular Atrophy (SMA) is a rare genetic disorder characterized by the progressive weakening of muscles due to the degeneration of motor neurons in the spinal cord. This condition is caused by a mutation in the survival motor neuron 1 (SMN1) gene, resulting in a deficiency of the survival motor neuron (SMN) protein, which is essential for the health and function of motor neurons. As these neurons deteriorate, individuals with SMA experience increasing muscle weakness and loss of movement.
SMA is notably the leading genetic cause of infant mortality worldwide, underscoring its severity and impact. Early diagnosis and intervention are crucial for managing symptoms and improving the quality of life for those affected by this condition..
