Amyotrophic Lateral Sclerosis

Jaffar Khan, MD
Assistant Professor of Neurology
Emory University
Motor Neuron Disease
Terminology
Lower motor neuron Upper motor neuron





Progressive
Muscular
Atrophy

Amyotrophic
Lateral
Sclerosis

Primary
Lateral
Sclerosis

Amyotrophic Lateral Sclerosis
Pathology
Degeneration and death of motor nerves
Upper Motor Neuron
within brain/spinal cord
Lower Motor Neurons
leaves brain (stem)/spinal cord
Relatively spared
Eye movements and bowel/bladder function
Amyotrophic Lateral Sclerosis
Epidemiology
Etiology unknown
Average age of onset mid-50s
Mode of transmission
Sporadic 90-95%
Familial 5-10% (autosomal
dominant)


Amyotrophic Lateral Sclerosis
Epidemiology
Male : Female 3:2
U.S. Prevalence: 30,000
Incidence 1-2.5 / 100,000
Isolated areas of increased incidence
Kii peninsula of Japan
Chamorro natives of Guam


Amyotrophic Lateral Sclerosis
Clinical Presentation
Lower motor neuron signs
Weakness, muscle wasting, hyporeflexia,
muscle cramps, fasciculations

Upper motor neuron signs
Spasticity, hyperreflexia, weakness

Amyotrophic Lateral Sclerosis
Clinical Presentation
Asymmetric Weakness most common
Onset single limb or bulbar
Local spread then regional spread
Bulbar, cervical, thoracic, lumbosacral
Fasciculations



Amyotrophic Lateral Sclerosis
Diagnosis
Prominent upper and lower neuron signs
with a progressive course without
significant sensory or sphincter
abnormalities
Laboratory investigation to search for a
more treatable condition
Amyotrophic Lateral Sclerosis
Clinical Signs and Symptoms
Weakness
Hyporeflexia
Pain and cramps
Fasciculations
Wasting


Spasticity
Hyperreflexia
Babinskis sign
Emotional Lability


Amyotrophic Lateral Sclerosis
Atypical Features
Dementia - < 5 %
Sensory loss atypical
25% complain of paresthesias
Oculomotor dysfunction
Bowel or bladder dysfunction
Amyotrophic Lateral Sclerosis

Diagnosis
Two experienced Neurologists

Laboratory Studies
No study to prove or disprove
Look for an alternate diagnosis


Amyotrophic Lateral Sclerosis
Laboratory Studies
Nerve conduction studies
assess for demyelinating vs. axonal
involvement
Electromyography
confirm ALS
myopathy


Amyotrophic Lateral Sclerosis
Laboratory Studies

MRI cervical spine
Cervical Spondylosis with cord compression
Herniated disc
Syrinx


Amyotrophic Lateral Sclerosis
Laboratory Studies
ESR inflammatory/malignancy
SPEP monoclonal gammopathy
TSH hyperthyroidism
B
12
combined systems degeneration
Calcium/PTH - hyperparathyroidism


Amyotrophic Lateral Sclerosis
Prognosis
Variable difficult to predict in an
individual patient
50% live 3-4 or more years
20% live 5 or more years
10% live 10 or more years
Occasional patients live 20 years

Amyotrophic Lateral Sclerosis
Treatment
Rilutek
2 large clinical trials
Bulbar onset
Entire population
Endpoint
Death
Ventilator dependence

Amyotrophic Lateral Sclerosis
Treatment
Bulbar onset
Prolonged survival
Improved muscle strength
Entire population
Prolonged survival
No effect on decline in muscle strength
Prolonged survival an average of 2-3
months


Amyotrophic Lateral Sclerosis
Rilutek 50 mg po bid
Hepatotoxicity
Serum transaminase levels
Check every month x 3
Then every 3 months x 3 for the first year
Adverse effects
Neutropenia
Nausea/vomiting





Amyotrophic Lateral Sclerosis
Rilutek 50 mg po bid
Reasons for not taking the drug
Expense
Minimal benefit
Unwillingness to take a medication that
would prolong life




Amyotrophic Lateral Sclerosis
Management
weakness
fatigue
nutrition
dysphagia
feeding tube
dysarthria
communication




spasticity
cramps
pain
depression
anxiety
breathing
end-of -life

Amyotrophic Lateral Sclerosis
Multidisciplinary Approach to Care
Neurologist
Clinical/research nurse
Dietician
Speech/swallowing
therapist
Family/caregivers
Psychologists
Physical therapist
Occupational therapist
Social worker
GI physician
Support organizations
Homehealth/hospice
Pulmonologist