What is Pelizaeus-Merzbacher disease?

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 group of inherited disorders, called leukodystrophies, in which myelin, or the protective covering of the brain and spinal nerves, is degraded. When myelin breaks down and does not form again, it causes people to have intellectual decline and delayed development of motor skills. In most cases, motor skills such as walking and coordination are affected more than intellectual function such as memory and language. It generally affects men more than women, and symptoms usually start 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 usually begins when the individual is very young. People affected by this type of disease usually have muscle weakness, involuntary eye movements, and delayed development of motor skills, such as walking or crawling. As the child ages, involuntary eye movements may stop, but the individual will usually experience muscle stiffness, poor balance, and muscle pulls. Although congenital Pelizaeus-Merzbacher disease is less common, it is more severe and includes symptoms such as difficulty breathing, speaking, eating, joint deformities, and seizures.

In general, 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 death. Alternatively, if a person has mild symptoms, they may have a medium or even long life and be able to live a normal lifestyle. A large number of people with Pelizaeus-Merzbacher have mild symptoms and are able to live full lives.

Unfortunately, there is no cure for Pelizaeus-Merzbacher disease. Any treatment provided is done simply to treat the symptoms. For example, an individual may receive supportive braces for joint pain or pulled muscles. In addition, you may be prescribed medications that are often used to treat movement disorders.

Research is being done to learn more about Pelizaeus-Merzbacher disease. Scientists are trying to understand the disease and find methods to prevent and treat affected people. The ultimate goal for many scientists is to discover a way to cure people currently affected by the disease. Studies are ongoing, and at many research hospitals, researchers are looking for affected people who want to participate in clinical trials.

Go up