Day 2 - Amyotrophic Lateral Sclerosis Flashcards
Definition of ALS
Disease of UMN (Corticospinal & Corticobulbar tracts) and LMN (Anterior horn cells):
LMN “amyotrophic”
Muscle denervation result in weakness, atrophy, and fasciculations
UMN “lateral sclerosis”
Lateral corticospinal tracts sclerosis result in hyperreflexia and spasticity
Amyotrophic lateral sclerosis (ALS) Etiology, Presentation, Prognosis
Pathology
- Degeneration of the anterior horn cell & UMN spinal tracts
Clinical presentation
- Bulbar
- Speech: Dysarthria
- Swallowing: Dysphagia
- Pseudobulbar signs: A cluster of symptoms including difficulty chewing, swallowing, and speech along with unprovoked emotional outbursts (e.g., crying and laughing)
- Thoracic: Respiratory failure
- Limbs: Asymmetric weakness, Atrophy & fasciculations
Spared
- Bowel and bladder
- Sensation
- Extraocular muscles
- +/- Cerebellar
Prognosis & Mobility of ALS
503
- 50% die within 3 years
- 30% live for 5 years
- 10% live for 10 years
Wheelchair by 12–18 months
Average survival from onset 3-5 years (From Dx 15 months)
Diagnostic Criteria for ALS
- Clinically definite ALS
- LMN and UMN signs in the bulbar region and at least two spinal regions “OR” three spinal regions without bulbar region.
- Clinically probable ALS
- Evidence of LMN and UMN signs in at least two regions
- PLUS UMN signs above the LMN signs.
- Clinically possible ALS
- Evidence of UMN + LMN dysfunction in one region
- UMN alone in two or more regions
- LMN signs are found rostral to UMN signs.
List 4 ALS Variants
- Progressive bulbar palsy (Pure bulbar involvement)
- Dysarthria: Slurred speech, hoarseness, or decreased volume of speech
- Dysphagia: Aspiration or choking during a meal
- Progressive muscular atrophy (Pure lower motor neuron degeneration)
- Reduced finger dexterity and weakness or wasting of intrinsic hand muscles
- Wrist drop interfering with work performance
- Foot drop; patients may report a “slapping” gait
- Tripping, stumbling when running
- Brachial amyotrophic diplegia (BAD)
- Upper limbs focus
- Leg amyotrophic diplegia (LAD)
- Lower limbs focus
List 6 Amyotrophic Lateral Sclerosis-Plus Syndromes
Add what is normal + other dx has plus in it.
- Sensory loss
- Ocular motility abnormalities
- Autonomic dysfunction
- Parkinsonism
- Extrapyramidal signs
- Frontotemporal dementia (FTD)
Protocol for ALS in EMG
Rule out root or plexopathy
Abnormal EMG result in at least two muscles innervated by different roots and peripheral nerves.
Active denervation with reinnervation must be found in three of four body segments
- Craniobulbar (Cranial n.)
- Cervical (Arms)
- Thoracic (Trunk)
- Lumbosacral (Legs)
EDX Result in MND
NCS
- SNAP: Typically normal
- CMAP: Abnormal (Motor disease)
EMG
- Abnormal Activity: FIBs, PSWs, Fasciculations (De-innervation)
- Decreased MUP recruitment (Damaged motor neurons)
- Large amplitude MUAP (Re-innervation)
SFEMG
- Abnormal fiber density, jitter, and blocking. (Mimics NMJ)
Bulbar Symptoms in ALS
Speech
- Dysarthria: Slurred speech
- Dysphonia: Hoarseness
Swallowing
- Oral Phase: Difficulty Chewing, Swallowing, Sialorrhea (drooling)
- Pharyngeal Phase: Choking & Aspiration
- Esophageal Phase: GERD, Vomiting, Malnutrition
Reflex
- Absent Gag reflex
- Absent Jaw Jerk
List 4 DDx for Bulbar Palsy other than ALS.
- Brain stem stroke
- Brain stem tumor
- Myasthenia Gravis (MG)
- Guillain-Barré syndrome (GBS)
Insufficient caloric intake in ALS can be related to
- Difficulty transferring food to the mouth due to arm weakness.
- Fatigue while eating
- Dysphagia
Feeding Management in MND.
Diet Type
Using thickener based on IDDSI after swallowing assessment
Diet Route
NGT → PEG tube with high caloric supplements
Low Risk Feeding Strategies
- Sit up at 90 degrees
- Small amounts
- Don’t mix solids and liquids (i.e., mixed consistencies)
- Supervision
- Remain upright 3o minute
- Focus on eating and eliminate any distraction (Tv)
Compensatory Techniques
- Chin tuck
- Head turn to weaker side
- Head tilt to stronger side
- Double swallow
- Supraglottic swallowing
Clearing Techniques
Mouth wash or manual removal by fingers
When do you refer ALS patient for PEG insertion?
Monitor FVC every 3 months
- PEG Before FVC <50%
- Hypocaloric, Dehydration, Weight loss more than 10%
- Choking & repeated aspiration pneumonia
List 4 Pharmacological treatments in Sialorrhea
- Oral or transdermal scopolamine
- Botulinum toxin type A, every 3 months at a dose of 7 to 22.5 units → S/E jaw dislocation
- Atropine drops → 0.25 to 0.75 mg 3 times daily
- Amitriptyline → 25 to 50 mg twice to 3 times daily
Risk of respiratory complications in ALS
Bulbar Dysfunction
- Sialorrhea, Aspiration Pneumonia
Respiratory Dysfunction
- Breathing: Inadequate maintenance of ventilation → Atelectasis
- Cough & Secretion: Inadequate mucus clearance
Respiratory complications in ALS. (Another Q: Benefits of pulmonary rehabilitation)
Day time
- Dyspnea, Tachypnea, Fatigue
- Weak cough
- Paradoxical breathing
Night Time
- Orthopnea
- Nocturnal hypoventilation
- OSA: Excessive sleepiness, morning headaches or drowsiness, Poor concentration
Physiological
- Polycythemia
- Pulmonary hypertension.
Managment of Respiratory System in ALS/MND
Breathing
- Beta agonists & anticholinergic bronchodilators
- Breath stacking
- Lung volume recruitment (LVR)
- NIV (BiPAP)
- IV (Tracheostomy)
Cough
- Huff coughing
- Manually assisted cough and the Heimlich maneuver
- Mechanical cough-assisting device
Secretion
- Normal saline or N-acetylcysteine
- Room humidifier
- Suction device
Coarse of respiratory statues as ALS disease progress?
- The Practice Parameters of the American Academy of Neurology suggests that all patients with ALS and respiratory symptoms or an FVC less than 50% predicted should be offered the use of Noninvasive positive-pressure ventilation (NIPPV).
- Most patients with ALS will at some point develop bulbar symptoms that are severe enough that they will be unable to continue use of NIPPV because of aspiration pneumonia or failure of NIPPV to ventilate the patient effectively despite 24 hour/day use. At this point, consideration for invasive ventilation may be the only option for continued survival.
- Unfortunately, invasive ventilation has no effect on the progression of the disease and patients can develop complete paresis of all muscles including the extraocular muscles and develop a “locked-in” syndrome in which no communication is possible.
Forced vital capacity (FVC) < 50%
Volume of air that can be forcefully and maximally exhaled after deepest inhalation.
Correlates with orthopnea & justify NIV
Peak cough flow (PCF)
Start NIV if PCF < 270mL / min
Associated with poor cough and a high risk of respiratory infection.
Nocturnal desaturations <90% of 1 cumulative minute
Sensitive indicator of hypoventilation
SAO2 <92%
ABGs → CO2 retention
Start NIV if PaCO2 > 45 mmHg
Maximum inspiratory/expiratory pressure (MIP & MEP)
Start NIV if MIP < 60 mmH2O
Sniff nasal inspiratory pressure (SNIP)
Correlates with hypercarbic respiratory failure
List 4 Benefits of Lung volume recruitment (LVR)
- Open → Reduce atelectasis
- Clear → mobilize secretions
- Clear → improve pulmonary hygiene
- Open → improves peak cough flows
Indication of invasive ventilation in ALS
- Use of NIV more than 12 hours per day
- Symptoms of dyspnea
- Intolerance of NIV with an FVC less than 50%
Considering oxygen therapy for neuromuscular disease?
Oxygen therapy should almost never be used in patients with ALS. It worsens respiratory symptoms and hypercapnea and can lead to hypercapnic coma or respiratory arrest.
Respiratory rehab in motor neuron disease
Every 3 months
- Monitor PCF > 5 L/sec or >270mL/min for effective cough
- Monitor FVC > 50% for functional breathing
Pulmonary Rehab
- Breathing
Anticholinergic bronchodilator
NIV (BIPAP) to start if FVC <50% or nocturnal desaturation
IV if failed to reach >90% saturation or hypercabnia
- Cough & Secretion Managment
PCF < 270 mL/min start LVR and manual assisted cough
PCF <160 mL/min or bulbar → mechanical assisted cough, tracheostomy & suction.
Motor Symptoms in ALS
Upper Limb
- Reduced finger dexterity, cramping, stiffness
- Weakness or wasting of intrinsic hand muscles
- Difficulty with buttoning clothes, picking up small objects, or turning a key.
- Patients may develop wrist drop.
Lower Limb
- Tripping, stumbling when running
- Foot drop, “slapping” gait
- Muscle atrophy, waddling gait, genu recurvatum
- Spasticity may compromise gait.
- Unsteadiness
- Painful joint contractures
List 4 causes of pain in ALS.
- Pressure Ulcer → pressure management
- Neuropathic Pain → Amitriptyline or Neurontin (gabapentin)
- Spasticity → Anti-spasticity, Physical modalities
- Contracture → ROM
- Cramps → Acetaminophen (1,000 mg every 6 hours) or NSAID
Spasticity. Any precautions in ALS?
Non-Pharmacological
- Physical therapy → Slow (30 second sustained), static muscle stretching
- Positional splinting (watch for pressure areas)
Pharmacological
- Oral Baclofen → 5 to 10 mg two to three times a day, titrating up to doses of 20 mg four times a day, watch S/E like weakness, fatigue, and sedation.
- Benzodiazepines → major side effect is respiratory depression
- Dantrolene → muscular weakness
Surgical
- Intrathecal baclofen → successful in ALS
- Botulinum toxin → make sure not to cause dysfunctional weakness
ALS patient referred for ALC, what would like to prescribe?
Thoracic
- Cervical orthoses for head drop
Upper Limb
- Wrist-hand orthosis for wrist drop
Lower Limb
- Ankle-foot orthoses for foot drop
- Quad cane (four point)
- Walker (rollator style)
- Wheelchair with good cushioning (gelfoam) and support for the spine.
List 4 Bathing assisted devices for ALS.
Toilet
- Grab bars
- Commode chair
- Raised toilet seat
Bathing
- Hand-held showers
- Bath tub benches
Write PT & OT Plan for ALS in OPD visit.
PT
- ROM and Strength Ex (Sub-maximal, avoid fatigue)
- Aerobic Exercises
OT
- Energy conservation
- Hand dexterity (writing, cutting, dressing & hygiene)
- Transfer and ambulation → Wheelchair or sling
Mood and Cognitive Disorders in ALS & Tx
- Depression
- Anxiety
Treatment
- TCA: Amitriptyline 25mg daily (Tx Insomnia & Drooling)
- SSRI: Cipralex 10mg daily
Pharmacological treatment for ALS.
Riluzole
MOA: inhibits presynaptic release of glutamate
Dose: 50 mg twice daily
Adverse reactions: dizziness, asthenia, and gastrointestinal disorders, elevated LFTs
Routine monitoring of liver function tests is recommended.
Benefits of exercise for ALS.
- Beneficial effect on mood, psychological well-being appetite, and sleep.
- Fighting depression and improving pain tolerance.
- Improvement in functional ability, decrease in disability
- Reduction in the rate of decline
Negative and positive factors affecting prognosis & Average survival.
Negative
- Female
- Old age of diagnosis
- Bulbar Onset
- Rapid progression
- Definite diagnosis of ALS
Treatment affecting prognosis
- Percutaneous endoscopic gastrostomy (PEG) tube
- Non-invasive ventilation
- Riluzole
- Multidisciplinary Clinics
Negative and positive factors affecting prognosis & Average survival.
Treatment affecting prognosis
- Percutaneous endoscopic gastrostomy (PEG) tube
- Non-invasive ventilation
- Riluzole
- Multidisciplinary Clinics
Negative
- Female
- Old age of diagnosis
- Definite diagnosis of ALS
- Bulbar Onset
- Rapid progression
Exercise Prescription & Precautions for ALS
Exercises
- Mild-to-modest resistance exercises for 15 minutes twice daily.
- Resistance training has been shown to improve function and spasticity.
- Aerobic exercises (Low impact like cycling)
- Warm pool therapy, walking mid-chest height.
- Range of motion and stretching exercises are considered safe
Precautions
- Fatigue
- Dyspnea
- Eccentric
- Cramps
- Prolonged DOMS
- Weakness post exercise
Fix → Scale down the exercise plan
