Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease (PMD) is a rare genetic disorder that affects the central nervous system. It is caused by mutations in the PLP1 gene, which is essential for the production of myelin, the protective sheath surrounding nerve fibers. This leads to problems with communication between nerve cells, resulting in various neurological symptoms.
Symptoms of PMD can include delayed motor skills, coordination difficulties, and cognitive challenges. The severity of the disease can vary widely among individuals. While there is currently no cure, supportive therapies can help manage symptoms and improve quality of life for those affected.