| Subtype | Motor Neurone Involvement | Key Features | Survival |
|---|---|---|---|
| ALS (Amyotrophic Lateral Sclerosis) | UMN + LMN — both limb and/or bulbar onset | Most common (80%). Mixed spasticity + wasting. Bulbar-onset ALS: dysphagia, dysarthria prominent early | Median 2–3 years |
| PLS (Primary Lateral Sclerosis) | UMN only | Spasticity, pseudobulbar affect, slow progression | Longer (>10 yrs) |
| PMA (Progressive Muscular Atrophy) | LMN only | Wasting, fasciculations, weakness; may convert to ALS | Variable |
| PBP (Progressive Bulbar Palsy) | Bulbar UMN/LMN | Early dysphagia, dysarthria, emotional lability; high aspiration risk | 1–3 years |
ALS diagnosis requires evidence of LMN degeneration by clinical/EMG, UMN degeneration by clinical examination, and progressive spread — in the absence of other disease explanations.
| Category | Criteria |
|---|---|
| Definite ALS | UMN + LMN signs in 3 regions (bulbar, cervical, thoracic, lumbar) |
| Probable ALS | UMN + LMN signs in ≥2 regions, with UMN rostral to LMN |
| Possible ALS | UMN + LMN signs in 1 region, or UMN in ≥2 regions |
| Suspected ALS | LMN signs in ≥2 regions only |
ALS-FTD (frontotemporal dementia) occurs in ~15% of ALS patients. A further 35–50% have executive dysfunction without full dementia.
Progressive respiratory failure is the leading cause of death in MND — occurs in 80–90% of patients. Caused by respiratory muscle weakness (diaphragm, intercostals, accessory muscles).
Mechanical Insufflation-Exsufflation (MI-E) — the "Cough Assist" device applies positive pressure to inflate lungs, then rapidly reverses to negative pressure to simulate cough.
| Parameter | Threshold for NIV | Urgency |
|---|---|---|
| FVC % predicted | <50% | Refer to respiratory team |
| SNIP | <40 cmH₂O (M) / <37 (F) | Refer if symptomatic |
| Peak Cough Flow | <270 L/min | Add MI-E; <160 urgent |
| Nocturnal SpO₂ | <90% for >5% of recording time | Initiate NIV promptly |
| Morning PaCO₂ | >6 kPa (45 mmHg) | Urgent NIV initiation |
| Symptoms alone | Orthopnoea, morning HA, daytime sleepiness | Initiate even if FVC >50% |
Enter patient parameters to assess respiratory status and NIV referral need.
Symptoms present:
The ALS Functional Rating Scale — Revised (ALSFRS-R) scores 12 domains (0–4 each, total 0–48). Lower scores = greater disability.
| Domain | Score 4 (Normal) | Score 0 (Worst) |
|---|---|---|
| Speech | Normal | Loss of useful speech |
| Salivation | Normal | Marked drooling |
| Swallowing | Normal | Nothing by mouth / NGT |
| Handwriting | Normal | Unable to grip pen |
| Cutting food | Normal | Gastrostomy fed |
| Dressing/Hygiene | Normal | Total dependence |
| Turning in bed | Normal | Helpless |
| Walking | Normal | No purposeful leg movement |
| Climbing stairs | Normal | Cannot do |
| Dyspnoea | None | Significant difficulty at rest |
| Orthopnoea | None | Unable to sleep without NIV |
| Respiratory insufficiency | None | Invasive ventilation |
| Level | Name | Use in MND |
|---|---|---|
| 0 | Thin liquid | Normal (aspiration risk — may need thickening) |
| 1 | Slightly thick | Early mild dysphagia |
| 2 | Mildly thick | Mild–moderate dysphagia |
| 3 | Liquidised | Moderate dysphagia |
| 4 | Puréed | Moderate-severe dysphagia |
| 5 | Minced & moist | Moderate dysphagia, some chew preserved |
| 6 | Soft & bite-sized | Mild-moderate chewing difficulty |
| 7 | Regular | No modification needed |
Gastrostomy feeding is a key decision in MND — timing is critical.
| PEG | RIG | |
|---|---|---|
| Guidance | Endoscopy (sedation needed) | Radiological (less sedation) |
| Preferred when | FVC >50%, good respiratory reserve | FVC <50%, high respiratory risk |
| Caution | Avoid if FVC <50% without NIV support | More complex placement |
| Treatment | Dose/Route | Notes |
|---|---|---|
| Hyoscine hydrobromide patch | 1.5 mg patch / 72 h (behind ear) | Anticholinergic SE; avoid in glaucoma |
| Amitriptyline | 10–50 mg nocte oral/PEG | Also aids sleep, depression |
| Glycopyrronium | 200 mcg TDS oral | Less CNS SE than hyoscine |
| Botulinum toxin | Injection to parotid/submandibular glands | Specialist procedure; effect 3–4 months |
| Low-dose radiotherapy | Salivary glands | Last resort; irreversible |
| Stage | Communication Status | Interventions |
|---|---|---|
| Early | Mild dysarthria, intelligible | SLT review, voice banking (ModelTalker/VocaliD), rate reduction strategies |
| Moderate | Reduced intelligibility, effort increased | Voice amplifier, alphabet board to clarify, SLT 1–2 monthly |
| Severe | Severely dysarthric, minimal speech | AAC device (GRID 3/Proloquo2Go tablet-based), letter board, partner-assisted scanning |
| Locked-in | No voluntary speech, limb movement minimal | Eye-gaze technology (Tobii Dynavox), switch-access, brain–computer interface (emerging) |
| Treatment | Details | Monitoring |
|---|---|---|
| Baclofen oral | 5 mg TDS → titrate to max 80 mg/day. GABA-B agonist | Drowsiness, falls risk; withdraw slowly |
| Intrathecal baclofen pump | For severe spasticity — requires surgical implant. Very effective for lower limb spasticity | Pump malfunction → withdrawal crisis; 24h emergency |
| Tizanidine | 2 mg TDS → up to 36 mg/day. Alpha-2 agonist | LFTs monthly for 6 months; hypotension |
| Botulinum toxin | Focal spasticity (e.g. hand, ankle). IM injection. Effect 3–4 months | Specialist only; monitor weakness spread |
| Physiotherapy | Stretching, positioning, splinting, hydrotherapy | Ongoing — essential adjunct to pharmacotherapy |
Fatigue affects ~80% of MND patients — multifactorial: muscle weakness, poor sleep, respiratory compromise, depression, medication side effects.
Uncontrolled laughing or crying disproportionate to emotional state — UMN pathway disruption. Distressing for patient and family.
| Step | Action |
|---|---|
| S — Setting | Private space, ensure patient not alone, no interruptions, sit at patient level |
| P — Perception | "What do you already know/understand about your symptoms?" |
| I — Invitation | "Are you ready to hear more information?" / "How much detail would you like?" |
| K — Knowledge | Deliver news clearly, in plain language. Pause. Allow silence. Avoid jargon. |
| E — Emotions | Acknowledge and name emotion. "I can see this is very difficult news." NURSE framework: Name, Understand, Respect, Support, Explore |
| S — Summary | Summarise, check understanding, provide written information, arrange follow-up |
Grief responses are non-linear and may cycle. Do not expect linear progression. Patients and carers may be at different stages.
Prevalence: depression ~20–30%, anxiety ~30–40% in MND. Under-detected — symptoms overlap with disease itself.
Prescribe and ensure availability of emergency medications before the terminal phase — distressing symptoms can escalate rapidly in MND.
| Symptom | Drug | Route/Dose |
|---|---|---|
| Dyspnoea / respiratory distress | Morphine sulphate | SC 2.5–5 mg PRN (opioid-naive); titrate |
| Anxiety / agitation | Midazolam | SC 2.5–5 mg PRN |
| Secretions / death rattle | Hyoscine hydrobromide | SC 400 mcg PRN or 1.2–2.4 mg/24h CSCI |
| Nausea | Haloperidol | SC 1.5 mg PRN or 3 mg/24h CSCI |
| Pain | Morphine | As above — also treats dyspnoea |
| Severe breathlessness | Morphine + Midazolam | Continuous SC infusion (syringe driver) |
~80% of MND care is provided by family carers — predominantly spouses and adult children. High rates of burnout, depression, and social isolation.
| Question Topic | Key Answer |
|---|---|
| Leading cause of death in MND | Respiratory failure (progressive respiratory muscle weakness) |
| First-line drug for ALS | Riluzole 50 mg BD — monitor LFTs and FBC |
| FVC threshold for NIV referral | <50% predicted (or symptomatic above this) |
| PEG preferred FVC window | 50–60% predicted |
| MI-E (Cough Assist) indication | Peak cough flow <270 L/min |
| ALS-FTD prevalence | ~15% of ALS patients |
| Definite ALS (El Escorial) | UMN + LMN signs in 3 of 4 regions |
| Drug for hypersalivation | Hyoscine patch / amitriptyline / glycopyrronium |
| Terminal dyspnoea management | Morphine SC + Midazolam SC (syringe driver if ongoing) |
| Voice preservation intervention | Voice banking (early stage dysarthria) |
| Cognitive screening in MND | ECAS (Edinburgh Cognitive and Behavioural ALS Screen) |
| ALSFRS-R total score range | 0–48 (48 = normal; decline >1 pt/month = rapid) |