Pelizaeus-Merzbacher Disease (PMD)

Pelizaeus-Merzbacher Disease(来自ICD-11)

别称:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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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