📂 Diseases
Joubert syndrome 2 — Definition
Joubert sendromu 2 / Joubert syndrome 2
Joubert syndrome 2 is a neurocommunicational disease with autozomal resessive transition, characterized by structural abnormalities in the brain and brain stem. Among the basic findings, hypotoni is the 'molar dental sign', which is the foundgus of the developmental delay and characteristic brain imaging. This lower type is mainly caused by mutations in TMEM216 gene, and is often associated with kidney diseases such as nephrronofitizis. It can also be observed with additional neurological symptoms such as disease, respiratory abnormalities and oculomotor apraxis.
Disease Definition
🔬 Disease Definition
Joubert sendromu 2 (JBTS2), serebellar vermis hipoplazisi, molar diş belirtisi, gelişimsel gecikme, hipotoni ve ataksi ile karakterize nadir bir otozomal resesif siliyopatidir. TMEM216 genindeki mutasyonlardan kaynaklanır.
🧬 Causes & Risk Factors
TMEM216 genindeki homozigot veya bileşik heterozigot mutasyonlar. Bu gen, birincil silia fonksiyonu için önemli olan bir proteini kodlar.
🩺 Symptoms & Signs
Neonatal dönemde hipotoni, anormal solunum paterni (takipne-apne), anormal göz hareketleri (nistagmus, okülomotor apraksi), gelişimsel gecikme, ataksi, zihinsel yetersizlik, retinal distrofi, renal kistler, karaciğer fibrozu, polidaktili.
📋 Diagnostic Methods
Klinik değerlendirme, nörogörüntüleme (MRG'de molar diş belirtisi), genetik test (TMEM216 gen analizi).
💊 Treatment Options
Semptomatik ve destekleyici tedavi: fizik tedavi, solunum desteği, beslenme desteği, gelişimsel eğitim, nöbet kontrolü, renal ve hepatik komplikasyonların yönetimi.
⚠️ Complications
Solunum yetmezliği, böbrek yetmezliği, karaciğer yetmezliği, körlük, ciddi zihinsel yetersizlik, nöbetler.
Frequently Asked Questions
❓ What is Joubert sendromu 2?
Joubert sendromu 2; joubert syndrome 2 is a neurocommunicational disease with autozomal resessive transition, characterized by structural abnormalities in the brain and brain stem. Among the basic findings, hypotoni is the 'molar dental sign', which is the foundgus of the developmental delay and characteristic brain imaging. This lower type is mainly caused by mutations in TMEM216 gene, and is often associated with kidney diseases such as nephrronofitizis. It can also be observed with additional neurological symptoms such as disease, respiratory abnormalities and oculomotor apraxis.
❓ What is Joubert syndrome 2 in Turkish?
The Turkish equivalent of "Joubert syndrome 2" is Joubert sendromu 2.
❓ Which medical field is Joubert sendromu 2 related to?
This term belongs to the Diseases category.