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Pelizaeus Merzbacher Brain Sclerosis
Condition Overview: Pelizaeus-Merzbacher brain sclerosis is a rare inherited disorder affecting the central nervous system that is associated with abnormalities of the white matter of the brain. Symptoms develop due to lack of the fatty covering of nerve cells (myelin sheath). Many areas of the central nervous system may be affected, including the deep portions of the cerebrum (subcortical), cerebellum, and/or brain stem. Symptoms 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, loss of motor abilities, and the progressive deterioration of intellectual function. The symptoms of Pelizaeus-Merzbacher brain sclerosis are usually slowly progressive.Several forms of the disorder have been identified, including classical X-linked Pelizaeus-Merzbacher brain sclerosis; acute infantile (or connatal) Pelizaeus-Merzbacher brain sclerosis; and autosomal dominant, adult-onset (or late-onset) Pelizaeus-Merzbacher brain sclerosis. . |
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