📂 Diseases
pontocerebellar hypoplasia type 2A — Definition
Pontoserebellar Hipoplazi Tip 2A / pontocerebellar hypoplasia type 2A
Pontoserebellar hypoplasia type 2A is a rare neurodegenerative disease, which is congenital little and less developed. It is characterized by severe motor and mental backrest, muscle tone disorders (hyotoni or spastisite) and microcephalus, usually starting in the period of babyhood. The disease causes mutations in the TSEN54 gene and indicates autosomal resessive inheritance. Prognosis is often worse and most patients are lost in early childhood.
Frequently Asked Questions
❓ What is Pontoserebellar Hipoplazi Tip 2A?
Pontoserebellar Hipoplazi Tip 2A; pontoserebellar hypoplasia type 2A is a rare neurodegenerative disease, which is congenital little and less developed. It is characterized by severe motor and mental backrest, muscle tone disorders (hyotoni or spastisite) and microcephalus, usually starting in the period of babyhood. The disease causes mutations in the TSEN54 gene and indicates autosomal resessive inheritance. Prognosis is often worse and most patients are lost in early childhood.
❓ What is pontocerebellar hypoplasia type 2A in Turkish?
The Turkish equivalent of "pontocerebellar hypoplasia type 2A" is Pontoserebellar Hipoplazi Tip 2A.
❓ Which medical field is Pontoserebellar Hipoplazi Tip 2A related to?
This term belongs to the Diseases category.