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ENPelizaeus-Merzbacher Disease (PMD)
Alias:
Pmd
Pelizaeus-Merzbacher Brain Sclerosis
Hld1
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type
Diffuse Familial Brain Sclerosis
Cockayne-Pelizaeus-Merzbacher Disease
Leukodystrophy, Hypomyelinating, 1
Leukodystrophy, Sudanophilic
Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type
Pelizaeus-Merzbacher Disease, Connatal Form
Pelizaeus-Merzbacher Disease, Null Syndrome
Diffuse Cerebral Sclerosis of Schilder
Pelizaeus Merzbacher Brain Sclerosis
Pelizaeus-Merzbacher Disease Type Ii
Hypomyelinating Leukodystrophy, 1
Hypomyelinating Leukodystrophy 1
Brain Sclerosis Diffuse Familial
Leukodystrophy Hypomyelinating 1
Sudanophilic Leukodystrophy
Plp1 Null Syndrome
Null Syndrome
Connatal Pmd
Severe Pmd
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Pelizaeus-Merzbacher Disease, also known as pmd, is related to pelizaeus-merzbacher-like disease and leukodystrophy, hypomyelinating, 3, and has symptoms including ataxia, muscle spasticity and seizures. An important gene associated with Pelizaeus-Merzbacher Disease is PLP1 (Proteolipid Protein 1), and among its related pathways/superpathways are Neural crest differentiation and Oligodendrocyte specification and differentiation, leading to myelin components for CNS. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include Spinal Cord and Brain, and related phenotypes are spasticity and scoliosis
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