Werdnig-Hoffmann Disease

Werdnig-Hoffmann Disease, also known as spinal muscular atrophy type 1, is a rare genetic disorder that affects motor neurons in the spinal cord, leading to severe muscle weakness. It typically appears in infancy, causing difficulties in movement and, often, challenges with breathing and swallowing. The condition is caused by mutations in the SMN1 gene, which is crucial for the survival of motor neurons. Unfortunately, affected infants may have a limited life expectancy, but supportive treatments and interventions can improve quality of life. Early diagnosis and care are essential for managing symptoms and providing support to families.