İnfantil Nöroaksonal Distrofi
Özet
İnfantil nöroaksonal distrofi (INAD) ve ilişkili spektrum (PLAN), PLA2G6 gen mutasyonları sonucunda gelişen nadir ve ilerleyici bir nörodejeneratif hastalık grubudur. Bu durum, çocukluk dönemindeki şiddetli psikomotor bozulmalardan yetişkin başlangıçlı parkinsonizme kadar değişkenlik gösteren geniş bir klinik tabloyla kendini belli eder. Tanı süreci genellikle MRG görüntülemeleri ve genetik testlerle desteklenirken, günümüzde hastalığı tamamen iyileştirecek bir tedavi yöntemi bulunmadığından yönetim semptomlara yönelik palyatif destekle sınırlıdır.
Infantile neuroaxonal dystrophy (INAD) and its associated spectrum, known as PLAN, represent a group of rare, progressive neurodegenerative disorders triggered by mutations in the PLA2G6 gene. These conditions manifest across a broad phenotypic range, extending from severe infantile-onset psychomotor deterioration to adult-onset parkinsonism. While diagnosis is typically achieved through neuroimaging and genetic testing, the absence of a curative treatment necessitates a multidisciplinary approach focused on palliative care and symptom management.
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