| Descriptor English: | Pelizaeus-Merzbacher Disease | ||||||
| Descriptor Spanish: |
Enfermedad de Pelizaeus-Merzbacher
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| Descriptor Portuguese: | Doença de Pelizaeus-Merzbacher | ||||||
| Descriptor French: | Maladie de Pelizaeus-Merzbacher | ||||||
| Entry term(s): |
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 Leukodystrophy, Hypomyelinating, 1 Pelizaeus Merzbacher Brain Sclerosis Pelizaeus Merzbacher Disease Pelizaeus Merzbacher Disease, Adult Pelizaeus Merzbacher Disease, Atypical Pelizaeus Merzbacher Disease, Classic Pelizaeus Merzbacher Disease, Transitional Pelizaeus Merzbacher Sclerosis, Brain Pelizaeus-Merzbacher Brain Sclerosis Pelizaeus-Merzbacher Disease, Adult Pelizaeus-Merzbacher Disease, Atypical Pelizaeus-Merzbacher Disease, Classic Pelizaeus-Merzbacher Disease, Transitional Pelizaeus-Merzbacher Sclerosis, Brain Transitional Pelizaeus Merzbacher Disease Transitional Pelizaeus-Merzbacher Disease |
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| Tree number(s): |
C10.228.140.163.100.362.775 C10.228.140.695.625.775 C10.314.400.775 C16.320.322.906 C16.320.565.189.362.775 C18.452.132.100.362.775 C18.452.648.189.362.775 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D020371 | ||||||
| Scope note: | 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) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Diffuse Cerebral Sclerosis of Schilder (1966-1999) Multiple Sclerosis (1966-1999) |
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| Public MeSH Note: | 2000; see CEREBRAL SCLEROSIS, DIFFUSE 1979-1999 |
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| History Note: | 2000; use CEREBRAL SCLEROSIS, DIFFUSE 1979-1999 |
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| Entry Version: | PELIZAEUS MERZBACHER DIS |
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| Related: |
Myelin Proteolipid Protein
MeSH | ||||||
| DeCS ID: | 34310 | ||||||
| Unique ID: | D020371 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2000/01/01 | ||||||
| Date of Entry: | 1999/11/04 | ||||||
| Revision Date: | 2016/02/26 |
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Pelizaeus-Merzbacher Disease
- Preferred
Pelizaeus-Merzbacher Disease, Transitional
- Narrower
Cockayne-Pelizaeus-Merzbacher Disease
- Narrower
Pelizaeus-Merzbacher Disease, Atypical
- Narrower
Adult Pelizaeus-Merzbacher Disease
- Narrower
Classic Pelizaeus-Merzbacher Disease
- Narrower
| Concept UI |
M0003895 |
| Scope note | 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) |
| Preferred term | Pelizaeus-Merzbacher Disease |
| Entry term(s) |
Brain Pelizaeus-Merzbacher Sclerosis Brain Sclerosis, Pelizaeus-Merzbacher Leukodystrophy, Hypomyelinating, 1 Pelizaeus Merzbacher Brain Sclerosis Pelizaeus Merzbacher Disease Pelizaeus Merzbacher Sclerosis, Brain Pelizaeus-Merzbacher Brain Sclerosis Pelizaeus-Merzbacher Sclerosis, Brain |
| Concept UI |
M0336646 |
| Preferred term | Pelizaeus-Merzbacher Disease, Transitional |
| Entry term(s) |
Pelizaeus Merzbacher Disease, Transitional Transitional Pelizaeus Merzbacher Disease Transitional Pelizaeus-Merzbacher Disease |
| Concept UI |
M0336643 |
| Preferred term | Cockayne-Pelizaeus-Merzbacher Disease |
| Entry term(s) |
Cockayne Pelizaeus Merzbacher Disease |
| Concept UI |
M0336645 |
| Preferred term | Pelizaeus-Merzbacher Disease, Atypical |
| Entry term(s) |
Atypical Pelizaeus Merzbacher Disease Atypical Pelizaeus-Merzbacher Disease Pelizaeus Merzbacher Disease, Atypical |
| Concept UI |
M0336642 |
| Preferred term | Adult Pelizaeus-Merzbacher Disease |
| Entry term(s) |
Adult Pelizaeus Merzbacher Disease Pelizaeus Merzbacher Disease, Adult Pelizaeus-Merzbacher Disease, Adult |
| Concept UI |
M0336644 |
| Preferred term | Classic Pelizaeus-Merzbacher Disease |
| Entry term(s) |
Classic Pelizaeus Merzbacher Disease Pelizaeus Merzbacher Disease, Classic Pelizaeus-Merzbacher Disease, Classic |
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