Day 2 - Amyotrophic Lateral Sclerosis

Question 1

Definition of ALS

Answer 1

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

Question 2

Amyotrophic lateral sclerosis (ALS) Etiology, Presentation, Prognosis

Answer 2

Pathology

• Degeneration of the anterior horn cell & UMN spinal tracts

Clinical presentation

1. Bulbar
   
   1. Speech: Dysarthria
   2. Swallowing: Dysphagia
   3. Pseudobulbar signs: A cluster of symptoms including difficulty chewing, swallowing, and speech along with unprovoked emotional outbursts (e.g., crying and laughing)
2. Thoracic: Respiratory failure
3. Limbs: Asymmetric weakness, Atrophy & fasciculations

Spared

1. Bowel and bladder
2. Sensation
3. Extraocular muscles
4. +/- Cerebellar

Question 3

Prognosis & Mobility of ALS

Answer 3

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)

Question 4

Diagnostic Criteria for ALS

Answer 4

1. Clinically definite ALS
   
   • LMN and UMN signs in the bulbar region and at least two spinal regions “OR” three spinal regions without bulbar region.
2. Clinically probable ALS
   
   • Evidence of LMN and UMN signs in at least two regions
   • PLUS UMN signs above the LMN signs.
3. 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.

Question 5

List 4 ALS Variants

Answer 5

1. Progressive bulbar palsy (Pure bulbar involvement)
   
   1. Dysarthria: Slurred speech, hoarseness, or decreased volume of speech
   2. Dysphagia: Aspiration or choking during a meal
2. 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
3. Brachial amyotrophic diplegia (BAD)
   
   • Upper limbs focus
4. Leg amyotrophic diplegia (LAD)
   
   • Lower limbs focus

Question 6

List 6 Amyotrophic Lateral Sclerosis-Plus Syndromes

Answer 6

Add what is normal + other dx has plus in it.

• Sensory loss
• Ocular motility abnormalities
• Autonomic dysfunction
• Parkinsonism
• Extrapyramidal signs
• Frontotemporal dementia (FTD)

Question 7

Protocol for ALS in EMG

Answer 7

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

1. Craniobulbar (Cranial n.)
2. Cervical (Arms)
3. Thoracic (Trunk)
4. Lumbosacral (Legs)

Question 8

EDX Result in MND

Answer 8

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)

Question 9

Bulbar Symptoms in ALS

Answer 9

Speech

1. Dysarthria: Slurred speech
2. Dysphonia: Hoarseness

Swallowing

1. Oral Phase: Difficulty Chewing, Swallowing, Sialorrhea (drooling)
2. Pharyngeal Phase: Choking & Aspiration
3. Esophageal Phase: GERD, Vomiting, Malnutrition

Reflex

1. Absent Gag reflex
2. Absent Jaw Jerk

Question 10

List 4 DDx for Bulbar Palsy other than ALS.

Answer 10

1. Brain stem stroke
2. Brain stem tumor
3. Myasthenia Gravis (MG)
4. Guillain-Barré syndrome (GBS)

Question 11

Insufficient caloric intake in ALS can be related to

Answer 11

1. Difficulty transferring food to the mouth due to arm weakness.
2. Fatigue while eating
3. Dysphagia

Question 12

Feeding Management in MND.

Answer 12

Diet Type

Using thickener based on IDDSI after swallowing assessment

Diet Route

NGT → PEG tube with high caloric supplements

Low Risk Feeding Strategies

1. Sit up at 90 degrees
2. Small amounts
3. Don’t mix solids and liquids (i.e., mixed consistencies)
4. Supervision
5. Remain upright 3o minute
6. Focus on eating and eliminate any distraction (Tv)

Compensatory Techniques

1. Chin tuck
2. Head turn to weaker side
3. Head tilt to stronger side
4. Double swallow
5. Supraglottic swallowing

Clearing Techniques

Mouth wash or manual removal by fingers

Question 13

When do you refer ALS patient for PEG insertion?

Answer 13

Monitor FVC every 3 months

1. PEG Before FVC <50%
2. Hypocaloric, Dehydration, Weight loss more than 10%
3. Choking & repeated aspiration pneumonia

Question 14

List 4 Pharmacological treatments in Sialorrhea

Answer 14

1. Oral or transdermal scopolamine
2. Botulinum toxin type A, every 3 months at a dose of 7 to 22.5 units → S/E jaw dislocation
3. Atropine drops → 0.25 to 0.75 mg 3 times daily
4. Amitriptyline → 25 to 50 mg twice to 3 times daily

Question 15

Risk of respiratory complications in ALS

Answer 15

Bulbar Dysfunction

• Sialorrhea, Aspiration Pneumonia

Respiratory Dysfunction

• Breathing: Inadequate maintenance of ventilation → Atelectasis
• Cough & Secretion: Inadequate mucus clearance

Question 16

Respiratory complications in ALS. (Another Q: Benefits of pulmonary rehabilitation)

Answer 16

Day time

1. Dyspnea, Tachypnea, Fatigue
2. Weak cough
3. Paradoxical breathing

Night Time

1. Orthopnea
2. Nocturnal hypoventilation
3. OSA: Excessive sleepiness, morning headaches or drowsiness, Poor concentration

Physiological

1. Polycythemia
2. Pulmonary hypertension.

Question 17

Managment of Respiratory System in ALS/MND

Answer 17

Breathing

1. Beta agonists & anticholinergic bronchodilators
2. Breath stacking
3. Lung volume recruitment (LVR)
4. NIV (BiPAP)
5. IV (Tracheostomy)

Cough

1. Huff coughing
2. Manually assisted cough and the Heimlich maneuver
3. Mechanical cough-assisting device

Secretion

1. Normal saline or N-acetylcysteine
2. Room humidifier
3. Suction device

Question 18

Coarse of respiratory statues as ALS disease progress?

Answer 18

1. 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).
2. 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.
3. 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.

Answer 19

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

Question 20

List 4 Benefits of Lung volume recruitment (LVR)

Answer 20

1. Open → Reduce atelectasis
2. Clear → mobilize secretions
3. Clear → improve pulmonary hygiene
4. Open → improves peak cough flows

Question 21

Indication of invasive ventilation in ALS

Answer 21

1. Use of NIV more than 12 hours per day
2. Symptoms of dyspnea
3. Intolerance of NIV with an FVC less than 50%

Question 22

Considering oxygen therapy for neuromuscular disease?

Answer 22

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.

Question 23

Respiratory rehab in motor neuron disease

Answer 23

Every 3 months

1. Monitor PCF > 5 L/sec or >270mL/min for effective cough
2. 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.

Question 24

Motor Symptoms in ALS

Answer 24

Upper Limb

1. Reduced finger dexterity, cramping, stiffness
2. Weakness or wasting of intrinsic hand muscles
3. Difficulty with buttoning clothes, picking up small objects, or turning a key.
4. Patients may develop wrist drop.

Lower Limb

1. Tripping, stumbling when running
2. Foot drop, “slapping” gait
3. Muscle atrophy, waddling gait, genu recurvatum
4. Spasticity may compromise gait.
5. Unsteadiness
6. Painful joint contractures

Question 25

List 4 causes of pain in ALS.

Answer 25

1. Pressure Ulcer → pressure management 2. Neuropathic Pain → Amitriptyline or Neurontin (gabapentin) 3. Spasticity → Anti-spasticity, Physical modalities 4. Contracture → ROM 5. Cramps → Acetaminophen (1,000 mg every 6 hours) or NSAID

Question 26

Spasticity. Any precautions in ALS?

Answer 26

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

Question 27

ALS patient referred for ALC, what would like to prescribe?

Answer 27

Thoracic 1. Cervical orthoses for head drop Upper Limb 1. Wrist-hand orthosis for wrist drop Lower Limb 1. Ankle-foot orthoses for foot drop 2. Quad cane (four point) 3. Walker (rollator style) 4. Wheelchair with good cushioning (gelfoam) and support for the spine.

Question 28

List 4 Bathing assisted devices for ALS.

Answer 28

Toilet 1. Grab bars 2. Commode chair 3. Raised toilet seat Bathing 1. Hand-held showers 2. Bath tub benches

Question 29

Write PT & OT Plan for ALS in OPD visit.

Answer 29

PT 1. ROM and Strength Ex (Sub-maximal, avoid fatigue) 2. Aerobic Exercises OT 1. Energy conservation 2. Hand dexterity (writing, cutting, dressing & hygiene) 3. Transfer and ambulation → Wheelchair or sling

Question 30

Mood and Cognitive Disorders in ALS & Tx

Answer 30

1. Depression 2. Anxiety Treatment 1. TCA: Amitriptyline 25mg daily (Tx Insomnia & Drooling) 2. SSRI: Cipralex 10mg daily

Question 31

Pharmacological treatment for ALS.

Answer 31

**_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.

Question 32

Benefits of exercise for ALS.

Answer 32

1. Beneficial effect on mood, psychological well-being appetite, and sleep. 2. Fighting depression and improving pain tolerance. 3. Improvement in functional ability, decrease in disability 4. Reduction in the rate of decline

Question 33

Negative and positive factors affecting prognosis & Average survival.

Answer 33

Negative 1. Female 2. Old age of diagnosis 3. Bulbar Onset 4. Rapid progression 5. Definite diagnosis of ALS Treatment affecting prognosis 1. Percutaneous endoscopic gastrostomy (PEG) tube 2. Non-invasive ventilation 3. Riluzole 4. Multidisciplinary Clinics

Question 34

Negative and positive factors affecting prognosis & Average survival.

Answer 34

Treatment affecting prognosis 1. Percutaneous endoscopic gastrostomy (PEG) tube 2. Non-invasive ventilation 3. Riluzole 4. Multidisciplinary Clinics Negative 1. Female 2. Old age of diagnosis 3. Definite diagnosis of ALS 4. Bulbar Onset 5. Rapid progression

Question 35

Exercise Prescription & Precautions for ALS

Answer 35

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 1. Fatigue 2. Dyspnea 3. Eccentric 4. Cramps 5. Prolonged DOMS 6. Weakness post exercise *Fix → Scale down the exercise plan*