What is the recommended management for a newly diagnosed adult (40‑70 years) with amyotrophic lateral sclerosis?

Management of Newly Diagnosed ALS in Adults (40-70 Years)

Immediate referral to a multidisciplinary ALS clinic is the single most important intervention, as this care model extends survival by approximately 142 days (nearly 5 months) and improves quality of life more than any pharmacological therapy currently available. 1

Immediate Actions at Diagnosis

Multidisciplinary Care Enrollment

• Refer to a specialized multidisciplinary ALS center immediately upon diagnosis, as this intervention reduces healthcare utilization, prolongs survival, and achieves higher quality-of-life scores compared to single-neurologist care. 1, 2
• The multidisciplinary team should include neurology, pulmonology, nutrition/dietetics, speech-language pathology, physical/occupational therapy, and palliative care from the outset. 1, 2
• Despite insurance typically reimbursing less than 50% of multidisciplinary care costs, this should not delay referral given the survival benefit. 1

Baseline Assessments Required at Diagnosis

Respiratory Function:

• Measure forced vital capacity (FVC) or slow vital capacity (SVC) and maximum expiratory pressure (MEP) at diagnosis, then repeat every 6 months minimum. 1
• Assess awake carbon dioxide tension at least annually using capnography when available. 1
• Screen for sleep disturbances at each visit, as these indicate early respiratory insufficiency. 1

Nutritional Status:

• Measure BMI and body weight at diagnosis—these are major prognostic factors, with malnutrition increasing death risk more than four-fold. 2
• Each 5% weight loss increases mortality risk by 34%; each 1-point BMI reduction increases death risk by 24%. 2
• Perform bioelectrical impedance analysis (BIA) if available, as each 1-degree decrease in phase angle predicts 68% increased mortality. 2

Dysphagia Screening:

• Perform videofluoroscopic swallowing study at diagnosis, even in asymptomatic patients, because aspiration can occur without clinical signs or patient complaints (silent aspiration). 2, 3
• Implement structured dysphagia screening every 3 months using the Eating Assessment Tool-10 (EAT-10), which achieves 86% sensitivity and 76% specificity for detecting unsafe swallowing. 2

Cognitive Assessment:

• Screen all patients for cognitive impairment at diagnosis, as up to 40% have cognitive dysfunction that significantly impacts treatment decisions, NIV compliance, and prognosis. 2, 4

Pharmacological Management

Disease-Modifying Therapy

• Initiate riluzole immediately, as it is the only established disease-modifying therapy, extending mean survival by 3-6 months through glutamate modulation. 5, 6
• Consider edaravone (intravenous or oral formulation) as an antioxidant therapy that offers modest survival benefit. 7, 6
  • Edaravone dosing: 60 mg IV infusion over 60 minutes, with initial 14-day daily treatment cycle followed by 14-day drug-free period, then subsequent cycles of 10 days out of 14-day periods. 7
  • Monitor for hypersensitivity reactions and sulfite allergic reactions (contains sodium bisulfite). 7
  • Patients may switch from IV to oral formulation (105 mg Radicava ORS) using the same dosing frequency. 7

Symptomatic Management

• For pseudobulbar affect, use dextromethorphan/quinidine to alleviate emotional lability. 6
• For sialorrhea, consider anti-muscarinic therapy or botulinum toxin A, though this does not improve dysphagia itself. 2
• For spasticity, implement appropriate pharmacological interventions as part of symptom control. 6

Respiratory Support Strategy

Non-Invasive Ventilation (NIV) Initiation Criteria

Initiate NIV when ANY of the following are present: 1

• FVC drops below 80% of normal in symptomatic patients
• FVC falls below 50% of predicted regardless of symptoms
• Awake PaCO₂ exceeds 45 mmHg

NIV provides the greatest survival and quality-of-life benefit among all currently available ALS therapies, prolonging survival by approximately 13 months—exceeding the benefit of riluzole. 1, 6

NIV Implementation Details

• Use bilevel positive airway pressure (BPAP) with backup respiratory rate, as it achieves better patient-ventilator synchrony than other NIV modes. 1
• Bulbar dysfunction is the primary limitation to NIV effectiveness, but do not withhold NIV trial based solely on bulbar symptoms—attempt NIV even in bulbar-onset patients. 1
• Cognitive impairment reduces NIV compliance; reassess cognitive function before recommending NIV if adherence is poor. 1, 2

Airway Clearance

• Implement mechanical insufflation-exsufflation (MI-E) devices for secretion clearance when peak cough flow falls below effective levels. 1
• Use lung volume recruitment (breath stacking) techniques for patients with reduced lung function or cough effectiveness. 1

Nutritional Management

Energy and Weight Goals

• Target weight gain if baseline BMI <25 kg/m²; target weight stabilization if BMI 25-35 kg/m². 3, 2
• Estimate energy needs at 30 kcal/kg body weight when indirect calorimetry is unavailable, adjusting for physical activity and body composition. 2
• Avoid using the Harris-Benedict equation for individual ALS patients, as it has limits of agreement of -677 to +591 kcal/day and is unreliable for prescribing calories. 2

Dietary Modifications

• Advise patients with fatigue to eat several small meals daily, with dietetic counseling focused on meal enrichment using high-calorie foods. 2
• Modify food texture to compensate for poor oral preparation phase and ease oral/pharyngeal transport while avoiding choking episodes. 2
• Add dietary fiber for constipation caused by abdominal weakness. 2

Swallowing Techniques

• Teach chin-tuck posture as a valuable airway protection mechanism to prevent laryngeal penetration in the majority of cases. 2
• Use head rotation for hypertonicity, incomplete release, or premature upper esophageal sphincter closure. 2
• Implement throat clearing every 3-4 swallowing acts to prevent postswallowing inhalation in cases of penetration without aspiration. 2

Gastrostomy Timing

• Perform gastrostomy (PEG) placement before severe respiratory compromise develops and before more than 10% weight loss occurs. 2
• Performing PEG after >10% weight loss markedly raises mortality (relative risk 4.18; 95% CI 2.72-6.42). 2
• Mean feeding duration after gastrostomy is 11-18 months. 2

Advance Care Planning

Initial Discussions at Diagnosis

• Initiate advance directive discussions at diagnosis, before communication becomes limited, covering preferences regarding: 1, 2
  • Long-term mechanical ventilation via tracheostomy (only 4-9% of patients choose this option, with wide cultural variation) 2
  • Feeding tube placement
  • End-of-life care preferences
• Repeat these discussions as disease progresses, as patients value having meaningful conversations about mechanical ventilatory support repeatedly throughout their care. 1

Palliative Care Integration

• Integrate palliative care from the time of diagnosis, with emphasis on patient autonomy, dignity, and quality of life. 2
• Early referral to palliative services is essential to establish relationships with staff and address end-of-life issues before communication becomes limited. 2
• Late referral to palliative services is the most common and harmful error, negatively impacting quality of life for both patients and caregivers. 2

Caregiver Support

• Implement structured caregiver support from diagnosis, including counseling, support groups, and crisis management systems. 2
• Behavioral deficits in ALS patients have significant negative impact on caregivers' quality of life, making proactive support essential. 2

Monitoring Schedule

Every 3 Months:

• Screen for malnutrition (BMI, weight loss). 3
• Perform dysphagia screening using EAT-10. 2
• Assess disease progression using ALS Functional Rating Scale-Revised (ALSFRS-R). 8

Every 6 Months:

• Pulmonary function testing (FVC/SVC, MEP). 1

Annually:

• Awake carbon dioxide tension measurement. 1

Each Visit:

• Screen for sleep disturbances. 1
• Reassess cognitive function if NIV compliance is poor. 1, 2

Critical Pitfalls to Avoid

• Do not delay multidisciplinary care referral due to insurance coverage concerns—the survival benefit outweighs cost barriers. 1
• Do not wait for respiratory symptoms to become severe before initiating NIV—early initiation at FVC <80% in symptomatic patients provides maximum benefit. 1
• Do not delay gastrostomy until after significant weight loss—perform before >10% weight loss to avoid markedly increased mortality. 2
• Do not withhold NIV trial based solely on bulbar symptoms—attempt NIV even in bulbar-onset disease. 1
• Do not use Harris-Benedict equation to prescribe individual caloric needs—use 30 kcal/kg body weight instead. 2
• Do not delay palliative care referral—integrate from diagnosis to avoid the most common harmful error in ALS management. 2