Spinal Muscular Atrophy
Spinal Muscular Atrophy (SMA) is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. It is caused by a deficiency of a protein called survival motor neuron (SMN), which is essential for the health of motor neurons. SMA primarily impacts voluntary muscle movements, making activities like walking, sitting, and swallowing difficult.
There are several types of SMA, classified by the age of onset and severity. Type 1 is the most severe form, appearing in infancy, while Type 2 and Type 3 have later onset and milder symptoms. Advances in treatment, including gene therapy, have improved outcomes for many individuals with SMA.