| Prevalence | Approximately 1-2 per 100,000 individuals annually[@chio2013] |
| Age of onset | Typically 50-70 years[@logroscino2010] |
| Gender | Slight male predominance (1.3-1.5:1)[@manera2020] |
| Motor neuron degeneration | Loss of motor neurons in the brainstem nuclei (hypoglossal nucleus, nucleus ambiguus, facial nucleus) |
| Bunina bodies | Small intraneuronal inclusions characteristic of ALS |
| Corticospinal tract involvement | Often associated with upper motor neuron signs |
| SOD1 mutations | Account for 15-20% of familial ALS cases |
| FUS mutations | Associated with aggressive bulbar-onset disease |
| TARDBP mutations | TDP-43 gene mutations |
| Dysarthria | Progressive slurred speech, initially affecting consonants, then vowels |
| Dysphagia | Difficulty swallowing, initially for solids, then liquids |
| Dysphonia | Hoarse, nasal, or weak voice |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
No AI portrait yet
No comments yet. Be the first to comment!