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Pelizaeus-Merzbacher Disease (PMD) is a rare central nervous system disorder wherein coordination, motor abilities and intellectual function are delayed to variable extents. Some of the common signs and symptoms of Pelizaeus-Merzbacher Disease include slow growth, jerky eye movements, problems in sitting and walking, and other such symptoms.
HOW IS PELIZAEUS-MERZBACHER DISEASE DIAGNOSED?
A diagnosis of Pelizaeus-Merzbacher disease may be suspected based upon a thorough clinical evaluation, a detailed patient history and a variety of specialized tests such as magnetic resonance imaging (MRI) to detect deficiency of white matter. Molecular genetic testing for the PLP1 gene is available to confirm the diagnosis.
HOW IS PELIZAEUS-MERZBACHER DISEASE TREATED?
Treatment is based on specific symptoms. Medications are given to prevent seizures or improve the condition with movement disorders. Supportive care, including emotional support for family members, is recommended as needed.
DID YOU KNOW?
Genetic counseling is recommended for individuals affected with Pelizaeus-Merzbacher Disease and their families.