📂 Diseases
pontocerebellar hypoplasia type 10 — Definition
Pontoserebellar hipoplazi tip 10 / pontocerebellar hypoplasia type 10
Pontoserebellar hypoplasia type 10 is a rare neurodegenerative disease, which is innate to the development of brain stem (pons) and cerebral (serebellum). This situation manifests itself with microcephalus, serious motor and mental backrest, epilepsy and nutrition difficulties. The disease is caused by mutations in TSEN54 or other related genes and indicates autozomal resesif inheritance. Type 10 can monitor a milder clinical cruise unlike other sub-types but still can lead to life-threatening complications.
Frequently Asked Questions
❓ What is Pontoserebellar hipoplazi tip 10?
Pontoserebellar hipoplazi tip 10; pontoserebellar hypoplasia type 10 is a rare neurodegenerative disease, which is innate to the development of brain stem (pons) and cerebral (serebellum). This situation manifests itself with microcephalus, serious motor and mental backrest, epilepsy and nutrition difficulties. The disease is caused by mutations in TSEN54 or other related genes and indicates autozomal resesif inheritance. Type 10 can monitor a milder clinical cruise unlike other sub-types but still can lead to life-threatening complications.
❓ What is pontocerebellar hypoplasia type 10 in Turkish?
The Turkish equivalent of "pontocerebellar hypoplasia type 10" is Pontoserebellar hipoplazi tip 10.
❓ Which medical field is Pontoserebellar hipoplazi tip 10 related to?
This term belongs to the Diseases category.