Comprehensive information about ALS symptoms, diagnosis, treatment options, and current research.

What is ALS (Amyotrophic Lateral Sclerosis)?

Amyotrophic Lateral Sclerosis (ALS) is a progressive and fatal neurodegenerative disease affecting motor neurons. Both upper motor neurons (brain) and lower motor neurons (spinal cord) are affected.

Epidemiology

Incidence: 2-3 per 100,000/year
Mean age of onset: 55-65
90-95% sporadic, 5-10% familial
Average survival: 2-5 years after diagnosis

Symptoms

Spinal onset (70%): Weakness in hands/feet, muscle wasting, fasciculations
Bulbar onset (25%): Speech and swallowing difficulties
Respiratory onset (5%): Dyspnea — worst prognosis

Diagnosis

Based on clinical assessment and exclusion: Revised El Escorial Criteria, EMG, nerve conduction studies, MRI, blood tests, and genetic testing for familial cases.

Genetics

C9orf72: Most common (40% familial ALS)
SOD1: 20% familial — Tofersen target
TARDBP and FUS mutations

Treatment

Riluzol (1995): Extends survival 2-3 months
Edaravon (2017): Slows functional decline
Tofersen (2023): First gene-targeted ALS therapy for SOD1 mutations
Supportive: NIV, PEG, physical therapy, speech therapy, palliative care

Current Research (2024-2025)

Gene therapy: Antisense oligonucleotides targeting FUS and C9orf72
Stem cell therapy: NurOwn trials
Anti-neuroinflammation: Masitinib phase 3
Biomarkers: Serum NfL for progression monitoring

What is ALS (Amyotrophic Lateral Sclerosis)? Comprehensive Guide