Late Onset Globoid Cell Leukodystrophy (LO-GDCL) is a rare inherited neurological disorder characterized by the progressive degeneration of the white matter of the brain. It is also known as Krabbe disease or adult-onset Krabbe disease. This condition is named after the microscopic globoid cells present in affected individuals' tissues.
LO-GDCL typically becomes apparent during adulthood, usually between the ages of 20 and 50, but onset can occur as early as the teenage years or as late as the 70s. The age of onset may vary among affected individuals, and the progression of the disease may also vary in terms of the rate of deterioration.
Symptoms of LO-GDCL may include weakness, muscle stiffness, difficulty walking, trouble coordinating movements, muscle wasting, speech and swallowing difficulties, cognitive decline, vision problems, and sensory disturbances. Individuals with LO-GDCL may also experience bladder and bowel dysfunction.
The disease is caused by mutations in the GALC gene, which leads to a deficiency in the enzyme galactosylceramidase. This deficiency results in a build-up of toxic substances, mainly galactosylsphingosine, within the brain's white matter, leading to the destruction of myelin, the protective covering of nerve fibers.
LO-GDCL is inherited in an autosomal recessive pattern, meaning that an affected individual inherits two copies of the mutated gene, one from each parent who carries the disease gene.
Currently, there is no cure for LO-GDCL, and treatment focuses on managing symptoms and providing supportive care. This may include physical therapy, occupational therapy, speech therapy, and medications to manage various symptoms.
