Which genetic disorder is noted for severe muscle weakness in infancy and progressive respiratory failure?

Spinal muscular atrophy (SMA) is a genetic disorder characterized by severe muscle weakness in infancy and progressive respiratory failure. This condition primarily affects the motor neurons in the spinal cord, which are crucial for controlling muscle movements. In infants with SMA, the loss of motor neurons leads to significant strength loss, affecting their ability to move and even breathe independently.

SMA is typically caused by a mutation in the SMN1 gene, which is essential for the survival of motor neurons. As the disease progresses, the respiratory muscles can weaken, resulting in respiratory failure, which is a major concern for affected individuals. This condition requires careful monitoring and interventions, including respiratory support.

In contrast, while cerebral palsy also leads to movement difficulties, it is not a genetic disorder per se, but rather the result of brain damage occurring before or during birth. Muscular dystrophy includes a range of genetic disorders that lead to progressive muscle deterioration, but it usually presents with different onset patterns and does not typically manifest as severe muscle weakness in infancy to the same extent as SMA. Spina bifida is a neural tube defect that can cause varying degrees of physical and intellectual disabilities, but it does not primarily lead to the specific muscle and respiratory issues seen in spinal muscular atrophy