Spinal Muscular Atrophy Type 1
Spinal Muscular Atrophy Type 1 (SMA Type 1) 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 the survival motor neuron (SMN) protein, which is essential for the health of motor neurons. Symptoms typically appear in infants before six months of age, including difficulty in sitting, crawling, or controlling head movements.
Children with SMA Type 1 may have trouble swallowing and breathing, which can lead to serious health complications. Early diagnosis and intervention are crucial, and treatments like gene therapy and supportive care can improve quality of life and prolong survival.