SMA type 2
SMA type 2, or spinal muscular atrophy type 2, is a genetic disorder that primarily affects muscle strength and movement. It is caused by a deficiency of the survival motor neuron (SMN) protein, which is essential for the health of motor neurons in the spinal cord. Individuals with SMA type 2 typically show symptoms between 6 and 18 months of age, including difficulty sitting up and limited mobility.
Unlike SMA type 1, those with SMA type 2 can often sit independently but may require assistance for walking. The severity of the condition varies, and while some individuals may experience a gradual decline in muscle function, others can maintain a degree of mobility throughout their lives. Treatment options, including gene therapy and supportive care, aim to improve quality of life.