Pelizaeus-Merzbacher disease (PMD) is a rare X-linked genetic disorder affecting the central nervous system that is associated with abnormalities of the white matter of the brain and spinal cord. Symptoms develop due to lack of the fatty covering (myelin sheath) of nerve cell fibers. Many areas of the central nervous system may be affected, including the deep portions of the cerebrum (subcortical), cerebellum, brainstem and spinal cord. Signs may include the impaired ability to coordinate movement (ataxia), involuntary muscle spasms (spasticity) that result in slow, stiff movements of the legs, delays in reaching developmental milestones, and late onset loss of motor abilities and progressive deterioration of intellectual function.
HOW IS PELIZAEUS-MERZBACHER DISEASE DIAGNOSED?
Pelizaeus-Merzbacher Disease is a rare genetic disorder that affects the central nervous system. The disorder basically impacts the white matter of the brain and spinal cord causing abnormalities such as involuntary muscle spasms, impaired ability to coordinate movements, late onset of motor abilities and progressive decline of intellectual ability.The signs of the classical form of PMD usually begin during early infancy, typically before 2 months of age.
HOW IS PELIZAEUS-MERZBACHER DISEASE TREATED?
The treatment for Pelizaeus-Merzbacher Disease addresses specific symptoms. Medications may be given to prevent seizures and improve quality of life
DID YOU KNOW?
The classical form of Pelizaeus-Merzbacher Disease affects males more than women