Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis
Post on 07-May-2015
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Amyotrophic Lateral Sclerosis
Jaffar Khan, MD
Assistant Professor of Neurology
Emory University
Motor Neuron DiseaseTerminology
Lower motor neuron Upper motor neuron
ProgressiveMuscular Atrophy
Amyotrophic Lateral Sclerosis
Primary LateralSclerosis
Amyotrophic Lateral SclerosisPathology
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 SclerosisEpidemiology
Etiology – unknown Average age of onset mid-50’s Mode of transmission
• Sporadic – 90-95%• Familial – 5-10% (autosomal
dominant)
Amyotrophic Lateral SclerosisEpidemiology
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 SclerosisClinical Presentation
Lower motor neuron signs• Weakness, muscle wasting, hyporeflexia,
muscle cramps, fasciculations
Upper motor neuron signs• Spasticity, hyperreflexia, weakness
Amyotrophic Lateral SclerosisClinical Presentation
Asymmetric Weakness – most common Onset single limb or bulbar Local spread then regional spread
• Bulbar, cervical, thoracic, lumbosacral Fasciculations
Amyotrophic Lateral SclerosisDiagnosis
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 SclerosisClinical Signs and Symptoms
Weakness Hyporeflexia Pain and cramps Fasciculations Wasting
Spasticity Hyperreflexia Babinski’s sign Emotional Lability
Amyotrophic Lateral SclerosisAtypical 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 disproveLook for an alternate diagnosis
Amyotrophic Lateral SclerosisLaboratory Studies
Nerve conduction studies • assess for demyelinating vs. axonal
involvement Electromyography
• confirm ALS• myopathy
Amyotrophic Lateral SclerosisLaboratory Studies
MRI cervical spine • Cervical Spondylosis with cord compression• Herniated disc• Syrinx
Amyotrophic Lateral SclerosisLaboratory Studies
ESR – inflammatory/malignancy SPEP – monoclonal gammopathy TSH – hyperthyroidism B12 – combined systems degeneration
Calcium/PTH - hyperparathyroidism
Amyotrophic Lateral SclerosisPrognosis
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 SclerosisTreatment
Rilutek 2 large clinical trials
• Bulbar onset• Entire population
Endpoint • Death• Ventilator dependence
Amyotrophic Lateral SclerosisTreatment
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 SclerosisRilutek 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 SclerosisRilutek 50 mg po bid
Reasons for not taking the drug• Expense• Minimal benefit• Unwillingness to take a medication that
would prolong life
Amyotrophic Lateral SclerosisManagement
weakness fatigue nutrition dysphagia feeding tube dysarthria communication
spasticity cramps pain depression anxiety breathing end-of -life
Amyotrophic Lateral SclerosisMultidisciplinary 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
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