What is the recommended treatment plan for a patient diagnosed with amyotrophic lateral sclerosis (ALS)?

Recommended Treatment Plan for Amyotrophic Lateral Sclerosis (ALS)

ALS requires immediate initiation of disease-modifying pharmacotherapy combined with early multidisciplinary palliative care from the time of diagnosis to maximize survival and quality of life.

Disease-Modifying Pharmacotherapy

First-Line Medication: Riluzole

• Start riluzole 50 mg twice daily (taken at least 1 hour before or 2 hours after meals) immediately upon diagnosis 1
• Riluzole extends median survival by 2-3 months in randomized controlled trials, but real-world evidence demonstrates survival extensions exceeding 19 months in clinical practice 2, 3
• The drug provides a 9% increase in probability of surviving one year (from 57% placebo to 66% riluzole-treated patients) 4
• Measure serum aminotransferases before starting and monitor during treatment—discontinue if liver enzymes exceed 5 times upper limit of normal 1
• Common adverse effects include asthenia, nausea, dizziness, decreased lung function, and abdominal pain (≥5% incidence) 1

Second Disease-Modifying Agent: Edaravone

• Administer edaravone 60 mg intravenously over 60 minutes for patients meeting eligibility criteria 5
• Initial treatment cycle: daily dosing for 14 days followed by 14-day drug-free period 5
• Subsequent cycles: daily dosing for 10 days out of 14-day periods, followed by 14-day drug-free periods 5
• Edaravone demonstrates statistically significant slowing of ALS disease progression 6
• Contraindicated in patients with hypersensitivity to edaravone or sodium bisulfite (which may cause anaphylactic reactions in susceptible individuals) 5

Multidisciplinary Palliative Care Framework

Immediate Actions at Diagnosis

• Refer to palliative care services at diagnosis, not at end-stage disease—this is critical because speech and communication become severely limited in later stages 7, 8, 9
• Establish multidisciplinary team including neurology, pulmonology, gastroenterology, speech-language pathology, nutrition, physical therapy, occupational therapy, social work, and palliative care 9
• Initiate advance care planning discussions immediately, covering preferences for ventilatory support, feeding tubes, and end-of-life care 7, 8
• Screen for cognitive impairment at baseline—up to 40% of ALS patients have cognitive dysfunction that impacts treatment decisions and compliance 7, 9

Nutritional Management Algorithm

Baseline Assessment:

• Perform BMI and weight assessment every 3 months 8, 9
• Conduct videofluoroscopy (VFS) at diagnosis for all patients with bulbar symptoms, even if asymptomatic for dysphagia—VFS detects early swallowing abnormalities including oral stasis, piecemeal swallowing, and silent aspirations 8, 9

For Patients with Dysphagia:

• Modify food texture to soft, semisolid, or semiliquid states to compensate for poor oral preparation and ease pharyngeal transport 10
• Use thicker liquids and jellified water instead of thin liquids to prevent aspiration 10
• Implement chin-tuck posture during swallowing to protect the airway—this is effective in the majority of cases 10, 7
• Consider head rotation for hypertonicity or incomplete upper esophageal sphincter release 7
• Advise throat clearing every 3-4 swallows to prevent postswallowing aspiration 7

For Patients with Fatigue and Prolonged Meals:

• Fractionate meals into several small portions throughout the day 10
• Enrich meals with high-calorie foods 10
• Add dietary fiber if constipation develops from abdominal weakness 10
• Enhance swallowing reflex by emphasizing taste or temperature 10

Enteral Nutrition Timing:

• Place percutaneous endoscopic gastrostomy (PEG) when forced vital capacity (FVC) remains >50% of predicted 9
• Refuse gastrostomy placement if FVC falls below 30% due to procedural risks 9
• Consider radiologically inserted gastrostomy (RIG) as alternative 10
• Parenteral nutrition is generally not indicated except in acute settings when enteral nutrition is contraindicated 10

Respiratory Management Protocol

Baseline and Monitoring:

• Establish baseline pulmonary function with slow vital capacity (SVC) and peak cough flow (PCF) measurements 8
• Monitor respiratory function regularly throughout disease course 8

Non-Invasive Ventilation (NIV) Initiation Criteria:

• Start NIV when FVC <80% of normal with symptoms, OR FVC <50% predicted, OR evidence of sleep-disordered breathing/hypoventilation on polysomnography 9
• Use bilevel positive airway pressure (BPAP) with backup respiratory rate for better patient-ventilator synchrony, especially in patients with bulbar impairment 9
• Assess cognitive function before recommending NIV—cognitive impairment significantly reduces NIV compliance 7, 9
• Combined NIV and riluzole therapy provides significantly longer survival (16.61 months) compared to supportive treatment alone (10.69 months) 11

Invasive Mechanical Ventilation:

• Discuss preferences early in disease course—only 4-9% of patients choose this option with wide cultural variation 7
• Requires careful advance planning before communication becomes limited 7

Management of Bulbar Symptoms

Sialorrhea:

• First-line: oral anticholinergic medication (inexpensive and effective) 9
• Second-line: botulinum toxin A injections to salivary glands 7, 9
• Note: treating sialorrhea does not improve dysphagia 7

Swallowing Assessment:

• All patients with suspected bulbar dysfunction require swallow screening before initiating oral intake 9
• Patients with positive bedside screening or high aspiration risk require videofluoroscopy swallowing study (VFSS) or modified barium swallow 9

Critical Pitfalls to Avoid

• Late palliative care referral is the most common and harmful error—negatively impacts quality of life for patients and caregivers 7, 9
• Equipment and service delays create catastrophic safety risks—treat all requests for ALS equipment and services as urgent 9
• Delayed gastrostomy placement when respiratory function deteriorates—place PEG before FVC drops below 50% 9
• Failure to screen for cognitive impairment—executive dysfunction increases risk of falls, choking, and injuries, and reduces treatment compliance 9
• Inadequate caregiver support—behavioral deficits in ALS patients significantly impact caregiver quality of life; implement structured support from diagnosis 7, 9

Prognosis Communication

• Mean survival is 3-5 years from symptom onset 7
• Only 5-10% of patients survive longer than 10 years 7
• Bulbar-onset ALS has shorter median survival (25-28 months) compared to limb-onset disease 9
• Respiratory failure from respiratory muscle weakness is the most common cause of death 7
• Multidisciplinary care improves both survival and quality of life based on considerable evidence 7, 9