Amyotrophic lateral sclerosis: clinical features and current treatment approaches

Yıl 2015, Cilt: 24 Sayı: 2, 182 - 194, 05.03.2015

Tuba Tülay Koca

https://doi.org/10.17827/aktd.79454

Öz

Amyotrophic lateral sclerosis also known as Lou Gehring’s disease, is the most common motor neuron disease characterized by motor neuron degeneration in the primary cortex, brainstem and spinal cord. This leads to widespread paralysis, respiratory insufficiency and death within an average of 3-5 years from disease onset. Majority of cases is sporadic and only 10% have a family story. One of the most interesting discovery in the field of neurodegeneration in recent years is genetic mutation in the C9orf72 (chromosome 9 open reading frame 72) gene, the most common mutation found to be causative of frontotemporal dementia, amyotrophic lateral sclerosis and concomitant of these two diseases. Currently curative therapy for amyotrophic lateral sclerosis is lacking. To date, one medication, Riluzole, has been proved to prolong survival, approximately 3-5 months, in amyotrophic lateral sclerosis. Researches aim to slow disease progression by targeting known pathophysiological pathways or genetics defects. Only symptomatic care to improve quality of life and survival is suggested. These includes respiratory and nutrition support; dysphagia and gastrostomy management; communication and mobility programs; spasticity prevention; pain medication; management of cognitive dysfunction, depression, mood dysorders (especially apathy), fatigue, sleep disturbance and prevention of deep venous thrombosis.

Anahtar Kelimeler

Motor neuron diseases, amyotrophic lateral sclerosis, frontotemporal dementia, riluzole, treatment

Amyotrofik Lateral Skleroz: Klinik Özellikler ve Güncel Tedavi Yaklaşımları

Öz

Amyotrofik lateral skleroz, ayrıca Lou Gehring hastalığı olarak da bilinir, primer korteks, beyinsapı ve spinal kordda motor nöron dejenerasyonu ile karakterize en sık görülen motor nöron hastalığıdır. Bu tutulum sonucu yaygın paralizi, solunum yetmezliği ve hastalık başlangıcından ortalama 3-5 yıl içinde ölüme yol açar. Vakaların çoğu sporadiktir ve sadece %10’unda aile öyküsü vardır. Son yıllarda nörodejenerasyon alanında en ilginç keşiflerden biri frontotemporal demans, amyotrofik lateral skleroz ve iki hastalığın birlikteliğinin nedeni olarak düşünülen C9orf72 (chromosome 9 open reading frame 72) mutasyonudur. Günümüzde amyotrofik lateral skleroz için küratif tedavi yoktur. Şimdiye kadar tek bir ilaç, Riluzol, amyotrofik lateral skleroz'da sağ kalımı uzatmayı, yaklaşık 3-5 ay, başarabilmiştir. Araştırmacılar bilinen patofizyolojik yolaklar ve genetik defektleri hedef alarak hastalık ilerleyişini durdurmayı hedeflemektedirler. Sadece semptomatik bakım yaşam kalitesini ve sağ kalımı artırmak için önerilmektedir. Solunum ve beslenme desteği; disfaji ve gastrostomi kontrolü; iletişim ve mobilite programları; spastisitenin önlenmesi; ağrı medikasyonu; kognitif disfonksiyon, depresyon ve duygudurum bozukluklarının (özellikle apati) kontrolü, yorgunluk, uyku bozukluğu ve derin ven trombozunun önlenmesini içermektedir.

Anahtar Kelimeler

Motor nöron hastalıkları, amyotrofik lateral skleroz, frontotemporal demans, riluzol, tedavi

Kaynakça

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