Ailesel Amyotrofik Lateral Skleroz Tip 8'in Klinik ve Sosyodemografik Profili, Sporadik Formu ile Karşılaştırıldığında

Doktor Özeti:
This study compares the clinical and sociodemographic characteristics of familial ALSALSAmyotrofik Lateral Skleroz, motor nöronların ilerleyici dejenerasyonu ile karakterize nörodejeneratif bir hastalıktır. type 8 (fALS8) with sporadic ALSSporadic ALSALS vakalarının çoğunu oluşturan, genetik bir nedeni olmayan ve aile öyküsü bulunmayan ALS türüdür. (Sporadik ALS) (sALS) in a Brazilian cohort. The fALS8 group exhibited a younger age at diagnosisDiagnosisBir hastalığın veya durumun tanımlanması süreci, tanı. (approximately 50 years vs. 53 years, p = 0.043), a predominantly lower limb onset (87%), and a significantly longer diagnostic delay from symptom onset (51 vs. 30 months, p < 0.001) and after admission to a specialized center (7 vs. 4 months, p = 0.002). Dysphagia and gastrostomy were more frequent in the sALS group (p = 0.02 and p < 0.01, respectively). Older age at diagnosisDiagnosisBir hastalığın veya durumun tanımlanması süreci, tanı. correlated with poorer functional outcomes. These findings highlight distinct clinical features of fALS8 and suggest potential differences in disease progression compared to sALS, with implications for diagnostic strategies and clinical management.

Önemli Bulgular:
fALS8 patients are diagnosed at a younger age compared to sALS patients.
Diagnostic delay is significantly longer in fALS8 patients.
fALS8 presents with a more homogeneous lower limb onset, while sALS exhibits more heterogeneous presentations.