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Pelizaeusova-Merzbacherova choroba
Č. záznamu d020371 Dátum 06.06.2025 Typ M - MESH Tematický termín Pelizaeusova-Merzbacherova choroba Iný termín Angličtina (Pseudonym) Cockayne-Pelizaeus-Merzbacher Disease
Slovenčina (Pseudonym) Cockayneova-Pelizaeusova-Merzbacherova choroba
Pozri tiež (Novšie záhlavie) proteín myelínový proteolipidový
(Skutočné meno) proteín myelínový proteolipidový
MDT C10.228.140.163.100.362.775C10.228.140.695.625.775C10.314.400.775C16.320.322.906C16.320.565.189.362.775C18.452.132.100.362.775C18.452.648.189.362.775 Poznámka 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) 
predmetové heslo
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