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. The most common form, SMA type 1, appears in infants and can be life-threatening, while SMA type 2 and SMA type 3 typically develop later and have a better prognosis. Early diagnosis and treatment can improve outcomes for individuals with SMA.