What are the management options for Amyotrophic Lateral Sclerosis (ALS)?

Management of Amyotrophic Lateral Sclerosis (ALS)

ALS requires immediate initiation of multidisciplinary care at diagnosis, including riluzole 50 mg twice daily, early palliative care integration, proactive nutritional and respiratory monitoring, and timely intervention with gastrostomy and non-invasive ventilation before severe functional decline occurs.

Pharmacological Treatment

Riluzole is the FDA-approved disease-modifying therapy for ALS and should be started immediately upon diagnosis 1. The recommended dose is 50 mg twice daily, taken at least 1 hour before or 2 hours after meals 1. This medication prolongs tracheostomy-free survival by 2-3 months and reduces the risk of death by approximately 35% compared to placebo 2, 3, 4.

Monitoring Requirements for Riluzole

• Measure serum aminotransferases before starting treatment and monitor during the first year, as transaminase elevations typically occur within 3 months but are usually transient 1, 5
• Discontinue riluzole if aminotransferases exceed 5 times the upper limit of normal 1
• Advise patients to report any febrile illness due to risk of neutropenia 1
• Common adverse effects include asthenia, nausea, dizziness, and gastrointestinal symptoms, which are generally dose-dependent and reversible 2, 3, 5

Multidisciplinary Care Framework

Establish multidisciplinary care immediately at diagnosis, as this approach improves both survival and quality of life 6, 7. The team must include neurology, pulmonology, gastroenterology, speech-language pathology, nutrition, physical therapy, occupational therapy, social work, and palliative care 8, 7.

Critical Timing Principle

All equipment and service requests for ALS must be treated as urgent and expedited, as delays create catastrophic safety risks 6, 8. This is not optional—late intervention directly worsens outcomes and quality of life.

Respiratory Management

Initiate non-invasive ventilation (NIV) when any of these criteria are met: 8, 7

• FVC falls below 80% of normal with symptoms
• FVC drops below 50% of predicted value
• Evidence of sleep-disordered breathing or hypoventilation on polysomnography

Use bilevel positive airway pressure (BPAP) with backup respiratory rate for patients with bulbar impairment, as this provides better patient-ventilator synchrony 8, 7.

Respiratory Device Access

Current Medicare criteria requiring FVC below 50% for respiratory assist device coverage are outdated 6. However, in clinical practice, plan for respiratory assist device placement before FVC falls below 50% of predicted to ensure timely access 8, 7.

Critical caveat: Patients with cognitive impairment, particularly executive dysfunction, have reduced NIV compliance and increased risk of falls, choking, and injuries—assess cognitive function before implementing NIV 8.

Nutritional Management

Assessment and Monitoring

Conduct nutritional status assessment (BMI, weight loss) every 3 months to detect early malnutrition 8, 7. Weight loss is a sign of poor prognosis, and maintaining weight may prolong survival 6.

Dysphagia Management Algorithm

All patients with suspected bulbar dysfunction require swallow screening before initiating oral intake 8, 7. If screening is positive or aspiration risk is high, proceed to videofluoroscopy swallowing study (VFSS) or fiberoptic endoscopic evaluation of swallowing (FEES) 9, 8.

For patients with dysphagia: 6, 9, 8

• Adapt food texture to soft, semisolid, or semiliquid consistency
• Use thicker liquids and semisolid foods with high water content (like jellified water) instead of thin liquids
• Implement chin-tuck posture during swallowing—this is the most universally effective postural maneuver, protecting airways by opening the valleculae and preventing laryngeal penetration
• Head rotation is indicated for hypertonicity or premature upper esophageal sphincter closure
• Hyperextended head posture only if lingual pump is absent and safe transit is ensured

For patients with muscular fatigue and prolonged mealtimes: 9

• Fractionate meals into smaller, more frequent portions
• Enrich meals with high-calorie foods
• If weight loss progresses despite enrichment, add oral nutritional supplementation

Gastrostomy Timing

Percutaneous endoscopic gastrostomy (PEG) placement must occur before respiratory function significantly deteriorates, ideally when FVC remains above 50% of predicted 6, 8, 7. The American Academy of Neurology recommends refusing gastrostomy when FVC falls below 30% due to increased procedural risk 8.

Discuss gastrostomy early and at regular intervals as ALS progresses 6. The decision should be guided by:

• Detection of dysphagia
• Prolonged meal duration
• Weight loss
• Declining respiratory function
• Risk of choking
• Patient wishes

Enteral nutrition via gastrostomy is preferred over parenteral nutrition 9. Home parenteral nutrition is generally not indicated due to high complication rates (3.11 per 1000 catheter days) 9.

Nutritional Supplementation

Nutritional supplementation is recommended for patients who cannot meet requirements with enriched diet alone 6. However, insufficient data exist to confirm that oral supplementation improves survival 6. Some evidence suggests high-carbohydrate supplementation may be more beneficial than high-fat formulations 6.

Palliative Care Integration

Adopt a palliative care approach from the time of diagnosis—not reserved for end-stage disease 6, 8, 7. This is a strong recommendation from the American Academy of Neurology and European Federation of Neurological Sciences 6, 8.

Early referral to palliative services is essential because speech and communication become severely limited in later stages 6, 8. Late referral negatively impacts quality of life for both patients and caregivers 6, 8.

End-of-Life Discussion Triggers

Initiate end-of-life discussions at these specific trigger points: 8

• Presence of patient distress
• Evolution of disease requiring major interventions
• Expressed desire of the patient to discuss these issues

Symptom Management

Sialorrhea

First-line therapy is an inexpensive oral anticholinergic medication; second-line therapy is botulinum toxin injection to salivary glands 8. Anti-muscarinic therapy or botulinum toxin A can manage sialorrhea, though evidence linking treatment of saliva problems to dysphagia improvement is lacking 6.

Physical Activity

Advise low to moderate physical activity as long as it doesn't worsen the patient's condition 9. Some evidence suggests endurance and resistance exercises may slow disease progression and improve functionality and quality of life 9. Avoid excessive physical exertion that could lead to fatigue and worsen symptoms 9.

Prognostic Considerations

Bulbar-onset ALS has significantly worse outcomes than limb-onset disease, with median survival of 28 months versus 44 months for spinal-onset patients with dysphagia 8, 7. Aspiration pneumonia occurs in 11-13% of bulbar ALS cases and represents a leading cause of mortality 8, 7.

Approximately 90% of ALS cases are sporadic without known genetic mutation 7. Overall, with current standard care including riluzole and multidisciplinary management, spontaneous survival rates are approximately 40%, with post-transplant survival rates reaching 80-90% in selected cases 6.

Critical Pitfalls to Avoid

• Do not delay gastrostomy until FVC is severely impaired—procedural risk increases dramatically below 50% FVC 6, 8
• Do not wait for severe symptoms before referring to palliative care—early integration improves outcomes 6, 8
• Do not treat all equipment requests as routine—delays in ALS create safety emergencies 6, 8
• Do not assume dysphagia management techniques from other conditions will work—ALS has specific pathophysiology requiring tailored approaches 9
• Do not overlook cognitive impairment—it affects NIV compliance and increases injury risk 8