Diffuse globoid body sclerosis, also known as Krabbe disease, is a rare genetic disorder that primarily affects the nervous system. It is characterized by the progressive degeneration of the myelin sheath, which is the protective covering around nerve fibers. Myelin is essential for proper nerve signal transmission, and its deterioration results in disrupted communication between nerve cells.
Symptoms of diffuse globoid body sclerosis typically appear in early infancy, although onset may occur later in childhood or even adulthood in some cases. Infants with the juvenile form of the disease may experience irritability, feeding difficulties, muscle stiffness, and developmental delays. As the condition progresses, individuals may exhibit muscle weakness, loss of muscle tone, and difficulty with coordination and balance. They may also develop vision and hearing impairment, seizures, and intellectual disability.
The underlying cause of diffuse globoid body sclerosis is a deficiency of the enzyme galactosylceramidase (GALC). This enzyme is responsible for breaking down a fatty substance called galactosylceramide, which is necessary for the normal functioning of myelin. Without sufficient levels of GALC, galactosylceramide accumulates in the brain and nervous system, leading to the destruction of myelin and the characteristic symptoms of the disease.
Currently, there is no cure for diffuse globoid body sclerosis, and treatment options are limited. Supportive care, including physical therapy and medication to manage symptoms, can help improve quality of life for affected individuals. In severe cases, a bone marrow or stem cell transplant may be considered to slow the progression of the disease. However, the effectiveness of these therapies varies, and not all patients are suitable candidates.
