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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?
MRI is usually the most preferred way of diagnosing this problem and physical examination of the patient is also done.
HOW IS PELIZAEUS-MERZBACHER DISEASE TREATED?
There is no fixed treatment available for the Pelizaeus-Merzbacher Disease. Patients are given intensive rehabilitation care, using neurological treatment and therapy followed with physiotherapy and other behavioural therapies to. Certain drugs are also given to boost immunity and improve overall health of the patient.
DID YOU KNOW?
PMD has a progressive course that varies depending on the phenotype. In the most moderate forms, life expectancy is quite long and the disease progresses slowly after adolescence. In the most severe forms, death usually occurs by the second decade.