Pelizaeus-Merzbacher disease is a genetic or inherited condition that involves the central nervous system, specifically the spinal cord and brain. It is part of a set of inherited disorders, called leukodystrophies, in which the myelin, or the protective covering of the brain and spinal nerves, degrades. When the myelin degrades and does not form again, it causes individuals to have intellectual impairment and a delayed development in motor skills. In most cases, the motor skills, such as walking and coordination, are affected more severely than intellectual function, such as memory and language. It typically affects males more than females, and the symptoms usually begin when the individual is very young.
Scientists divide Pelizaeus-Merzbacher disease into two general types: classic and connatal. Classic Pelizaeus-Merzbacher disease is considered more common, and it usually begins when the individual is very young. People affected by this type of the disease generally have muscle weakness, involuntary eye movements, and delayed motor skill development, such as walking or crawling. As the child ages, the involuntary eye movements may stop, but the individual will usually experience stiff muscles, poor balance, and jerking muscles. Although connatal Pelizaeus-Merzbacher disease is less common, it is more severe and includes such symptoms as breathing difficulties, talking, eating, deformities of the joints, and seizures.
Generally, the prognosis for people with the most severe symptoms of Pelizaeus-Merzbacher disease is quite poor. In these severe cases, the individual gradually deteriorates until she reaches death. In the alternative, if a person has mild symptoms, she may have an average or even a long life span and be able to live a normal lifestyle. A large number of people with Pelizaeus-Merzbacher have mild symptoms and can live full lives.
Unfortunately, there is no cure for Pelizaeus-Merzbacher disease. Any treatment that is provided is done so merely to treat the symptoms. For example, an individual may be given supportive braces for aching joints or jerking muscles. In addition, she may be prescribed medication that is often used to treat movement disorders.
Research is underway to learn more about Pelizaeus-Merzbacher disease. Scientists are trying to understand the disease and find methods to prevent and treat people affected by it. The ultimate goal for many scientists is to discover a way to cure people currently affected with the disease. There are studies underway and, in many research hospitals, researchers are looking for affected individuals who would like to participate in clinical studies.