📂 Diseases
adult polyglucosan body disease — Definition
Erişkin poliglukozan cisim hastalığı / adult polyglucosan body disease
Adult polygluosis cisim disease is a rare neurodegenerative disease, usually starting from 40-60 years. The disease is characterized by the formation of abnormal polygluosis in nerve cells (polyglusive objects). Clinically transmitted neuropathic manifests itself with neurological symptoms such as neurogenic bladder, demans and pyramidal findings. Genetic mutations (usually in the GBE1 gene) are caused by the deficiency of glycogen branching enzyme.
Disease Definition
🔬 Disease Definition
Adult polyglucosan body disease (APBD), periferik nöropati, nörojenik mesane ve demans ile karakterize, nadir görülen bir nörodejeneratif hastalıktır. Poliglukozan cisimciklerinin sinir sistemi hücrelerinde birikmesiyle oluşur.
🧬 Causes & Risk Factors
GBE1 genindeki mutasyonlar nedeniyle glikojen dallandırma enziminin eksikliği sonucu anormal glikojen birikimi.
🩺 Symptoms & Signs
İlerleyici kas güçsüzlüğü, duyu kaybı, yürüme zorluğu, nörojenik mesane, bilişsel gerileme, demans, spastisite.
📋 Diagnostic Methods
Klinik değerlendirme, sinir biyopsisinde poliglukozan cisimciklerinin görülmesi, genetik test (GBE1 mutasyonu), EMG, MRG.
💊 Treatment Options
Spesifik bir tedavisi yoktur; semptomatik tedavi (fizik tedavi, mesane yönetimi, ağrı kontrolü) ve destekleyici bakım.
⚠️ Complications
Ciddi mobilite kaybı, solunum yetmezliği, yutma güçlüğü, enfeksiyonlar, tam bağımlılık.
Frequently Asked Questions
❓ What is Erişkin poliglukozan cisim hastalığı?
Erişkin poliglukozan cisim hastalığı; adult polygluosis cisim disease is a rare neurodegenerative disease, usually starting from 40-60 years. The disease is characterized by the formation of abnormal polygluosis in nerve cells (polyglusive objects). Clinically transmitted neuropathic manifests itself with neurological symptoms such as neurogenic bladder, demans and pyramidal findings. Genetic mutations (usually in the GBE1 gene) are caused by the deficiency of glycogen branching enzyme.
❓ What is adult polyglucosan body disease in Turkish?
The Turkish equivalent of "adult polyglucosan body disease" is Erişkin poliglukozan cisim hastalığı.
❓ Which medical field is Erişkin poliglukozan cisim hastalığı related to?
This term belongs to the Diseases category.