 

AMYOTROPHIC LATERAL Exogenous/environmental factors, apoptosis,

viral infections
As disease progresses, UMN symptoms
decrease
Pathophysiology Bulbar Pathology
SCLEROSIS  Progressive degeneration and loss of motor  Spastic/flaccid/mixed bulbar palsy
 M/c and devastatingly fatal MND among adults neurons in the brainstem, SC, and motor  Dysarthria – impaired speech
cortex o Spastic – voice sounds forced
 Characterized by degeneration and loss of
motor neurons in the SC, brainstem, and brain,  Affected: o Flaccid – hoarse, breathy
resulting in a variety of UMN and LMN clinical o UMNs in the cortex o Pharyngeal weakness – nasal tone
signs and symptoms o Corticospinal tracts  Dysphagia – impaired chewing/swallowing
 Motor neuron diseases – a heterogenous o Brainstem nuclei for CN V, VII, IX, X, XII o Flaccid - ↑ risk of aspiration
spectrum of inherited and sporadic clinical o Ant horn cells of the SC o Spastic – uncoordinated closure of the
disorders of UMNs, LMNs, or a combination of  Spared (if degeneration, happens late in the epiglottis
both. course):  Sialorrhea – excessive saliva and drooling
Epidemiology o CN III, IV, and VI  Pseudobulbar Affect – poor/pathological
 Can occur at any age, but average onset is o Onufrowicz nucleus (Onuf’s nucleus) @ emotional response, common in pts c spastic
mid-to-late 50s, rare p age 65 ventral margin of the ant horn in S2 – bulbar palsy
 M>F, 1.7:1 controls micturition, defecation, and Respiratory Impairments
 5-10% are autosomal dominant, majority are orgasm  Loss of respiratory muscle strength, ↓ VC
sporadic o Sensory system, spinocerebellar tracts  Truncated speech, orthopnea, dyspnea at rest,
 ~70-80% develop limb-onset ALS  Reinnervation can compensate for progressive paradoxical breathing, accessory muscle use,
 20-30% develop bulbar-onset ALS, more degeneration until motor unit loss is about weak cough
common in middle-aged women and sx may 50%
include difficulty speaking, chewing, or  Progression: Contiguous manner  Cognitive Impairments
swallowing rostral/caudal symptoms  Frontotemporal Dementia (FTD) – cognitive
Etiology o Signs and symptoms spread locally a decline, executive function impairments,
 Superoxide dismutase – defect of S0D1 in moving to other regions difficulties c planning, organization, concept
chromosome 21 o Caudal-rostral in the SC, cervical-bulbar abstraction, personality, and behavior changes
o Group of enzymes that eliminate free are faster than rostral-caudal  Pts c bulbar-onset are more likely to have
radicals Clinical Manifestations cognitive impairments
o SOD1 encodes copper-zinc superoxide  Muscle weakness is considered the cardinal Rare Impairments
dismutase (CuZnSOD) sign of ALS  Sensory, bowel and bladder dysfunction, ocular
 Excessive glutamate – triggers a cascade of LMN Pathology palsy
events leading to cell death  Focal, asymmetrical muscle weakness Diagnosis
o Deficiency in excitatory amino acid beginning in either the extremities or the  No definitive diagnostic test/biological marker
transporters 2 (EAAT2) is seen in the bulbar muscles  Weakness/Atrophy/Hyperreflexia/Spasticity
motor cortex and SC of postmortem ALS  Cervical extensor weakness is typical  Progression over time
tissue  Fasciculation – random spontaneous twitching  EMG/NCV/Neuroimaging/Biopsy
 Clumping of neurofilament proteins into of muscle fibers often seen through skin  El Escorial Criteria for Diagnosis of ALS
spheroids in the cell body and prox axon –  Hypo/areflexia LMN signs only
histopathology of ALS  ↓ muscle tone/flaccidity, muscle cramping ≥ 1 region
 Autoimmune reaction UMN Pathology SUSPECTED
UMN signs
 Lack of neurotrophic factors [↓ amts of ciliary  Spasticity, hyperreflexia, clonus, pathologic only
neurotrophic factor (CNTF)] reflexes
  Effects are modest, extending survival for 2-3 measure for pts who decline ventilatory
LMN + UMN mos support
POSSIBLE
1 region Symptomatic Management o Positive-pressure noninvasive
 May be considered “palliative” – an approach ventilation (NIV) -when VC ↓ to 50%; ↓
that improves the quality of life of patients and symptoms of hypoventilation
Identified DNA their families facing the problem associated o Invasive ventilation via tracheostomy or
DEFINITE FALS
Lab Supported Gene with life-threatening illness, through hospice care
prevention and relief of suffering.” o Manually assisted coughing techniques
LMN + UMN EMG  Still considered a “treatable” disease and use of a mechanical insufflation-
1 region Acute  Sialorrhea exsufflation (MI-E) device to facilitate
UMN ≥ 1 denervation ≥ o Anticholinergics: glycopyrrolate clearance of respiratory and oral
region 2 limbs (Robinul), benztropine (Cogentin), secretions
transdermal hyoscine (scopolamine),  Dysarthria
atropine, trihexyphenidyl hydrochloride o Managed by SPL
PROBABLE ALS (Artane) o Palatal lift prosthesis – pts c good
Lab Supported o Thick mucus production: Beta-blockers articulation but have a breathy voice
(propranolol, metoprolol) quality/↓ loudness d/t excessive air loss
o Medially refractory sialorrhea: through the nose
LMN + UMN Botulinum injections into parotid and  Muscle Cramps, Spasticity, Fasciculations, and
PROBABLE
2 regions Pain
submandibular glands, low-dose
radiation o Cramps: Muscle stretching, hydration,
LMN + UMN  Pseudobulbar Affect nutrition  Anticonvulsants: Phenytoin
DEFINITE o Tricyclic antidepressants: amitriptyline and carbamazepine; GI upset and rash,
3 regions
o Selective Serotonin Reuptake Inhibitors carbamazepine causes sedation
Disease Course (SSRIs): fluvoxamine o Benzodiazepines: Diazepam,
 Average duration: 27-43 months o Fixed-dose of clonazepam, lorazepam; sedation,
 Median duration: 23-52 months dextromethorphan/quinidine dizziness, respiratory depression,
 In most pts, death occurs c/in 3-5 yrs p o Side effects: somnolence, dizziness, weakness
diagnosis nausea o Spasticity: benzodiazepines, baclofen,
Prognosis  Dysphagia tizanidine; weakness, fatigue, sedation,
 Pts < 35-40 y/o at onset had better 5-year o Nutritionist, dietitian, SLP hypotension
survival rates than older individuals o Dietary modifications, pt education o Fasciculations: Avoid/minimize caffeine
 Individuals c limb-onset have better prognosis regarding dietary strategies, and nicotine, lorazepam to ↓ intensity
that bulbar-onset adaptations to promote swallowing o Pain: mild – analgesics, NSAIDs; severe
 Less severe involvement at time of diagnosis, o PEG – creates a permanent opening into refractory – narcotics; terminal –
longer interval between onset and diagnosis, the stomach for introduction of food morphine
no symptoms of dyspnea at onset  Respiratory Impairments  Anxiety and Depression
Management o Pneumococcal and yearly influenza o SSRI: Fluoxetine, sertraline
Disease-Modifying Agents vaccinations o Depression: tricyclic antidepressants
 Riluzole (Rilutek), a glutamate inhibitor, is o Prevent aspiration (amitriptyline, imipramine)
the only approved treatment for ALS o Effective oral and pulmonary secretions o Anxiety, depression, insomnia:
 Dosage: one 50 mg tablet BID management benzodiazepines
 Side effects: Liver toxicity, asthenia o Supplemental O2 reserved for pts c o Respiratory affected: non-
(weakness), nausea, vomiting, dizziness concomitant pulmonary disease/comfort benzodiazepine anxiolytic (buspirone)
PT Examination Postural Alignment, Control, and Balance  Compensatory intervention – modifying
 Direct – direct result of pathology  Tinetti Performance Oriented Mobility activities, tasks, or environment to minimize
 Indirect – sequalae to pathology Assessment, Berg Balance Scale, Timed Up activity limitations and participation
 Composite – result of multiple underlying and Go Test, Functional Reach Test restrictions
origins Gait  Preventative intervention – minimizing
Cognition  Gait stability, safety, and endurance examined potential impairments such as loss of ROM,
 No ALS-specific cognitive test  Energy expenditure, alignment, fit, practicality, aerobic capacity, strength, preventing
 Use Mini-Mental State Examination safety, ease of use of orthotic and prosthetic pneumonia or atelectasis, activity limitations
o 24-30 – No cognitive impairment devices Cervical Muscle Weakness
o 18-23 – Mild cognitive impairment Respiratory Function  Progressive cervical extensor weakness causes
o 0-17 – Severe cognitive impairment  Supine Forced Vital Capacity (FVC) may be a head to fall forward
Psychosocial Function better indicator of diaphragm weakness o Soft foam collar – mild to moderate
 Beck’s Depression Inventory, Center of  Maximal Inspiratory Pressure (MIP) may be cervical weakness; replaced frequently
Epidemiologic Study Depression Scale, Hospital useful in respiratory function monitoring o Semirigid/rigid collar – moderate to
Anxiety and Depression Scale, State-Trait  Sniff Nasal Pressure (SNP) may be effective in severe weakness; may feel discomfort
Anxiety Directory detecting hypercapnia or confined
Pain  Peak Cough Expiratory Flow (PCEF) – most o Sternal Occipital Mandibular
 Usually an indirect/composite impairment widely used measure of cough effectiveness Immobilizer (SOMI) – combined cervical
 VAS Integument and upper thoracic weakness
Joint Integrity, ROM, Muscle Length Functional Status Dysarthria and Dysphagia
 Functional ROM, AROM, AAROM, PROM, muscle  FIM  Address pt’s head and trunk control and
length, soft tissue flexibility and extensibility  Schwab and England Activities of Daily Living position in sitting
are examined Scale – 11-pt global measure of functioning  Reinforce use of strategies for eating and
Muscle Performance Rati Description swallowing
 MMT, isokinetic muscle strength testing, ng UE Muscle Weakness
handheld dynamometry, maximum voluntary 100 Completely independent  Painful shoulder d/t subluxation – sling
isometric contraction (MVIC) using strain %  Early stages – universal cuff c pocket for
gauge tensiometer system 90% Completely independent. Beginning to be writing or feeding utensils; mobile arm support
aware of difficulty. when prox shoulder weakness increases
 MVIC is considered most direct technique for
80% Completely independent. Conscious of  Late stage – long straw and straw holder
investigating motor unit loss
difficulty and slowness. Shoulder Pain
Motor Function
70% Not completely independent.
 Hand function and initiation, modification, and  Pts may present c capsular patterns of
60% Some dependency.
control of movement patterns examined restriction
50% More dependent.
 Dexterity, coordination of large movement Respiratory Muscle Weakness
40% Very dependent.
patterns, gross and fine motor control 30% Much help needed.  Education extremely important
Tone and Reflexes 20% Severe invalid.  Airway clearance techniques may be necessary
 Modified Ashworth Scale and Tardieu Scale for 10% Complete invalid. LE Muscle Weakness and Gait Impairments
spasticity, deep tendon and pathologic reflexes 0% Bedridden, vegetative functions.  Orthoses may be recommended
Cranial Nerve Integrity Environmental Barriers  KAFOs are not recommended d/t weight
 Common nerves: CN V, VII, IX, X, and XII Fatigue  If crutches are warranted, Loftstrand crutches
Sensation  Fatigue Severity Scale are preferred
PT Intervention Decreased Mobility
 Restorative intervention – remediating or
improving impairments and activity limitations
  Place firm cushion 2-3” thick under buttocks in
the chair/elevate chair using prefabricated
blocks
 Self-powered lifting cushions require adequate
trunk control and balance
Muscle Cramps and Spasticity
 Massage and stretching
 Cold temporarily ↓ spasticity
 Slow prolonged stretched and PROM to address
spasticity
Psychosocial Issues
Exercise
 Often, PT programs involve ROM and
stretching exercises only
 Overuse weakness does not occur in muscles
with MMT grade 3 (fair) or greater
 Moderate resistance exercises can ↑ strength
in muscles with MMT grade 3 or greater
 Strength gains = initial muscle strength
 Heavy eccentric exercise should be avoided
Disuse Atrophy
 Develops when muscle contractions are < 20%
of total tension a muscle is capable of
producing
 Muscle weakness progresses @ 3% per day
Overuse Fatigue

Tardieu Scale
0 No resistance throughout course of passive
movement.
1 Slight resistance throughout the course of
passive movement.
2 Clear catch at precise angle, interrupting passive
movement, followed by release.
3 Unsustained clonus (< 10 s when maintaining
pressure) occurring at precise angle, followed by
release
4 Sustained clonus (> 10 s when maintaining the
pressure) occurring at precise angle.