Kufor-Rakeb syndrome

Kufor-Rakeb syndrome is a rare genetic disorder that affects the brain, leading to progressive movement problems similar to Parkinson's disease, such as tremors, stiffness, and difficulty walking. It also causes features like eye movement issues and cognitive decline over time. The condition is caused by a specific gene mutation, inherited in an autosomal recessive manner, meaning both parents must carry the gene for a child to be affected. Symptoms typically begin in childhood or early adulthood and worsen gradually. While there is no cure, treatment focuses on managing symptoms and maintaining quality of life through medication and supportive therapies.