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Disease Pelizaeus-Merzbacher Disease

Name Pelizaeus-Merzbacher Disease
Synonyms ADLD | Adult Pelizaeus Merzbacher Disease | Adult Pelizaeus-Merzbacher Disease | Atypical Pelizaeus Merzbacher Disease | Atypical Pelizaeus-Merzbacher Disease | Brain Pelizaeus-Merzbacher Sclerosis | Brain Sclerosis, Pelizaeus-Merzbacher | Classic Pelizaeus Merzbacher Disease | Classic Pelizaeus-Merzbacher Disease | Cockayne Pelizaeus Merzbacher Disease | Cockayne-Pelizaeus-Merzbacher Disease | HLD1 | LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT | Leukodystrophy, Hypomyelinating, 1 | Pelizaeus Merzbacher Brain Sclerosis | Pelizaeus-Merzbacher Brain Sclerosis | Pelizaeus Merzbacher Disease | Pelizaeus Merzbacher Disease, Adult | Pelizaeus-Merzbacher Disease, Adult | Pelizaeus Merzbacher Disease, Atypical | Pelizaeus-Merzbacher Disease, Atypical | PELIZAEUS-MERZBACHER DISEASE, AUTOSOMAL DOMINANT OR LATE-ONSET TYPE, FORMERLY | Pelizaeus Merzbacher Disease, Classic | Pelizaeus-Merzbacher Disease, Classic | Pelizaeus Merzbacher Disease, Transitional | Pelizaeus-Merzbacher Disease, Transitional | Pelizaeus Merzbacher Sclerosis, Brain | Pelizaeus-Merzbacher Sclerosis, Brain | PMD | Transitional Pelizaeus Merzbacher Disease | Transitional Pelizaeus-Merzbacher Disease
Definition 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, CONGENITAL. 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)
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease
MeSH® ID D020371
OMIM® IDs 169500 | 312080
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Pelizaeus-Merzbacher Disease Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Leukoencephalopathies Has associated chemicals Has associated genes Has associated exposure references Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Pelizaeus-Merzbacher Disease Has associated chemicals Has associated genes
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Demyelinating Diseases Has associated chemicals Has associated genes Has associated exposure references Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Pelizaeus-Merzbacher Disease Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, X-Linked Has associated chemicals Has associated genes Pelizaeus-Merzbacher Disease Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Pelizaeus-Merzbacher Disease Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Pelizaeus-Merzbacher Disease Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hereditary Central Nervous System Demyelinating Diseases Has associated chemicals Has associated genes Pelizaeus-Merzbacher Disease Has associated chemicals Has associated genes

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Pelizaeus-Merzbacher Disease Has associated chemicals Has associated genes
  Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant