What is werdnig-hoffman disease?

Werdnig-Hoffmann disease, also known as spinal muscular atrophy type 1 (SMA type 1), is a genetic disorder characterized by the degeneration of motor neurons in the spinal cord, leading to severe muscle weakness and atrophy. It is caused by mutations in the SMN1 gene, which is essential for the survival of motor neurons. Symptoms typically appear within the first six months of life and can include difficulty in movement, feeding, and breathing. Without intervention, affected infants often have a significantly reduced life expectancy, but advancements in treatments have improved outcomes for many patients.