Disease Information for Pelizaeus-Merzbacher disease: Definition

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  • A rare, slowly progressive disorder of myelin formation; Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease; The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene; Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS. Death occurs by the third decade of life; The congenital form has similar characteristics but presents early in infancy and features rapid disease progression; Transitional and adult subtypes have a later onset and less severe symptomatology; Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance); (From Menkes, Textbook of Child Neurology, 5th ed, p190)---------------------------------------. Pelizaeus Merzbacher Brain Sclerosis; PMD; Pelizaeus-Merzbacher Disease; Sclerosis, Diffuse Familial Brain; Sudanophilic Leukodystrophy, Pelizaeus-Merzbacher Type; subdivisions: Acute Infantile Pelizaeus-Merzbacher Brain Sclerosis; Autosomal Dominant Pelizaeus-Merzbacher Brain Sclerosis; Classical X-Linked Pelizaeus-Merzbacher Brain Sclerosis; Late Onset Pelizaeus-Merzbacher Brain Sclerosis; 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; [NORD 2005]-----------------------------

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