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Pelizaeus-Merzbacher disease is an inherited genetic disorder prevalent in males and typically affecting the central nervous system, including the brain and spinal cord. The disease generally causes problems with muscle tone, involuntary movements, and motor skill maintenance and development. This disease affects the nervous system by exposing white matter, thus contributing to neurological abnormalities.
White matter is a critical part of the human nervous system, including nerve fibers that allow for the transmission of nerve impulses for normal functioning. Pelizaeus-Merzbacher disease affects the white matter of the nervous system, leaving nerve fibers exposed.
The exposure of the nerve fibers in Pelizaeus-Merzbacher disease is due to the loss of myelin. Myelin is a fatty substance that normally covers the nerve fibers, insulating them for proper nerve impulse transmissions. When Pelizaeus-Merzbacher disease affects the nervous system, the myelin is reduced in a condition known as hypomyelination. This, in turn, leads to a reduction in neurological functioning.
Pelizaeus-Merzbacher disease is classified by two forms, that of classic, and that of connatal (present at birth). Both types may share symptoms, though those symptoms typically vary in severity. Classic Pelizaeus-Merzbacher disease is the most common form. It typically begins early in life, though not at infancy, with symptoms appearing in the first year. Symptoms worsen with time.
In Connatal Pelizaeus-Merzbacher disease, the symptoms are more severe and begin in infancy, worsening with age.
Unfortunately, there is no cure or normal treatment regimen for Pelizaeus-Merzbacher disease. Management typically involves physical therapy, medication for spasticity and seizures, customized wheelchairs and other interventions from a multidisciplinary team of specialists.
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