📂 Diseases
Pelizaeus-Merzbacher disease — Definition
Pelizaeus-Merzbacher hastalığı / Pelizaeus-Merzbacher disease
It is a rare leukodistrophy, characterized by insufficient formation of miyelin sheath in the central nervous system (hyomilelinization), X-based resessive transition. The nistagmus, which is usually starting in early childhood, manifests itself with delay, spastisite and motor development backness in head control. The disease is caused by the abnormal production of proteolipid protein 1 as a result of mutations in the PLP1 gene. The clinical cruise shows variableness from the congenital form to classic jersey, and magnetic resonance imaging (MRG) findings with diagnostic genetic tests.
Frequently Asked Questions
❓ What is Pelizaeus-Merzbacher hastalığı?
Pelizaeus-Merzbacher hastalığı; it is a rare leukodistrophy, characterized by insufficient formation of miyelin sheath in the central nervous system (hyomilelinization), X-based resessive transition. The nistagmus, which is usually starting in early childhood, manifests itself with delay, spastisite and motor development backness in head control. The disease is caused by the abnormal production of proteolipid protein 1 as a result of mutations in the PLP1 gene. The clinical cruise shows variableness from the congenital form to classic jersey, and magnetic resonance imaging (MRG) findings with diagnostic genetic tests.
❓ What is Pelizaeus-Merzbacher disease in Turkish?
The Turkish equivalent of "Pelizaeus-Merzbacher disease" is Pelizaeus-Merzbacher hastalığı.
❓ Which medical field is Pelizaeus-Merzbacher hastalığı related to?
This term belongs to the Diseases category.