What is the management approach for a typical adult patient with Amyotrophic Lateral Sclerosis (ALS)?

Management of Amyotrophic Lateral Sclerosis (ALS)

Integrate palliative care from the moment of diagnosis, not at end-of-life, as this multidisciplinary approach improves both survival and quality of life in ALS patients. 1

Disease-Modifying Pharmacotherapy

Riluzole 50 mg twice daily is the only FDA-approved medication proven to extend survival, adding approximately 60-90 days of median survival. 2

• Start riluzole immediately upon diagnosis in patients with disease duration less than 5 years and forced vital capacity ≥60% of normal 2
• Riluzole does not improve muscle strength or neurological function—it only modestly extends survival 2
• Edaravone 60 mg IV (administered as two consecutive 30 mg infusions over 60 minutes) can be considered, given in 14-day treatment cycles followed by 14-day drug-free periods initially, then 10 days out of 14-day periods for subsequent cycles 3
• Monitor for hypersensitivity reactions with edaravone, particularly in patients with asthma or sulfite sensitivity 3

Respiratory Management

Initiate non-invasive ventilation (NIV) early when respiratory dysfunction develops, as this intervention prolongs survival and improves quality of life. 1, 4

• Screen for respiratory insufficiency at every visit, even before symptoms appear 5
• NIV compliance is adversely affected by cognitive impairment—assess cognitive function before recommending NIV 6, 1
• Only 4-9% of patients choose invasive mechanical ventilation, with wide cultural variation (4% UK, 0% USA, 9% Japan) 6
• Implement airway clearance techniques to prevent respiratory infections 5
• Respiratory failure from respiratory muscle weakness is the most common cause of death 1

Nutritional Support

Place gastrostomy tube when dysphagia develops and before forced vital capacity drops below 50%, as preventing weight loss may slow disease progression. 1, 5

• Gastrostomy placement rates vary significantly: 23% UK, 50% USA, 35% Japan, with mean feeding duration of 11-18 months 6
• Modify food texture to prevent aspiration and improve nutritional intake 1
• Use chin-tuck posture as a protective mechanism for airways to prevent laryngeal penetration 1
• Recommend multiple small meals throughout the day for patients with fatigue, focusing on high-calorie food enrichment 1
• Add dietary fiber for constipation caused by abdominal weakness 1
• Target weight gain if BMI <25 kg/m², weight stabilization if BMI 25-35 kg/m² 1

Cognitive and Behavioral Assessment

Screen all patients for cognitive impairment at diagnosis, as up to 40% have cognitive dysfunction that significantly impacts treatment decisions and compliance. 1, 7

• Patients with frontotemporal dementia or executive dysfunction have significantly shorter survival 6, 7
• Cognitive impairment reduces likelihood of choosing long-term mechanical ventilation and decreases NIV compliance 6, 1
• Patients with executive dysfunction are at higher risk of falls, choking episodes, and injuries 6
• Insistence on NIV and feeding tube placement in the presence of significant behavioral and cognitive deficits should be carefully reconsidered on an individual basis 6

Advance Care Planning

Initiate advance directive discussions at diagnosis, ideally 5-10 months before anticipated death, before communication becomes limited. 6, 1

• Trigger points for end-of-life discussions include patient distress, disease evolution, or patient's expressed desire to discuss these issues 6
• Address preferences regarding ventilatory support, feeding tubes, and end-of-life care early 1
• Although considered useful in 78% of European centers, only 30% of patients actually complete advance directives 1, 7
• End-of-life discussions occur in 23% of UK patients, 80% of USA patients, with timing averaging 5-10 months prior to death 6

Symptomatic Management

Aggressively manage symptoms to maintain quality of life, as symptom control is the primary therapeutic goal when disease modification is limited. 4, 8

• Sialorrhea: Use anti-muscarinic therapy or botulinum toxin A, though this does not improve dysphagia 1
• Spasticity: Implement expert management to enhance patient well-being 5
• Pain: Recognize and treat pain systematically 8, 9
• Pseudobulbar affect: Treat emotional lability appropriately 9
• Depression: Screen and treat depression, address suicide risk 9
• Sleep disorders: Identify and manage sleep disturbances 8
• Constipation and reflux: Manage digestive disorders proactively 8

Caregiver Support

Implement structured caregiver support from diagnosis, including counseling, support groups, and crisis management systems, as behavioral deficits in ALS significantly increase caregiver burden. 6, 1, 7

• Behavioral deficits have a significant negative impact on caregivers' quality of life 6, 7
• Family members play a central role in management and care 4
• Caregiver support is crucial throughout the disease trajectory 7

Multidisciplinary Care Coordination

Organize care through a multidisciplinary ALS clinic, as this approach is considered the gold standard and improves survival rates. 1, 4, 8

• The Dutch model provides clear care coordination: neurologist coordinates during diagnostic phase, rehabilitation medicine consultant during rehabilitation phase, and general practitioner during terminal phase 6
• Multidisciplinary team should include neurology, pulmonology, nutrition, physical therapy, occupational therapy, speech therapy, social work, and palliative care 4, 9
• Provide augmentative communication devices as speech deteriorates 4, 9

Critical Pitfalls to Avoid

Late referral to palliative services is the most common and harmful error—refer at diagnosis, not when death is imminent. 1, 7

• Early referral establishes relationships with staff and addresses end-of-life issues before communication becomes limited 1
• Access to assistive equipment may be limited once patients formally receive palliative care, highlighting the need for early integration 1, 7
• Approximately 10% of patients are misdiagnosed, and delays in diagnosis are common—ensure prompt and accurate diagnosis 4
• Mean survival is only 3-5 years after symptom onset, with only 5-10% living longer than 10 years—time is critical 1, 10