aMYOTROPIC Lateral Sclerosis
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Transcript of aMYOTROPIC Lateral Sclerosis
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AMYOTROPIC LATERAL SCLEROSIS
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• Commonly known as Lou Gehrig’s disease• Combination of Upper Motor Neuron and Lower
Motor Neuron disorder• Degeneration and loss of motor neurons in the SC,
brainstem and brain, resulting into a variety of UMN and LMN signs and symptoms
• M.C. and most fatal Motor Neuron Disease among adults
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EPIDEMIOLOGY• 4 – 10 cases per 100,000• Average age of onset: mid to late 50s• Men > Women with a ratio of 1.7:1• 5 – 10% of cases were inherited as an autosomal dominant trait
(Familial ALS/ FALS)• Large majority have no family history (Sporadic ALS)• 70-80%: Limb onset ALS• 20-30% Bulbar onset ALS
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ETIOLOGY1. Superoxide Dismutase
- Group of enzymes that eliminate oxygen free radicals- Mutations in gene SOD1 in Chromosome 21 that causes toxic
properties leading to death of neurons2. Glutamate
- Excess glutamate causes cascade of events leading to cell death
- Increased levels of glutamate in CSF and plasma and postmortem tissues of Pt.’s with ALS
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ETIOLOGY3. Clumping of neurofilament proteins into spheroids in cell bodies4. Autoimmune reaction
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ETIOLOGYKnown Risk Factors for ALS- Disease causing mutations (SOD1)- Clusters ( Western Pacific ALS/PDC)- Family History- Age- Gender (male>female)
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ETIOLOGYPossible Risk Factors for ALS- Neurotoxicant exposures (lead, mercury, pesticide, solvent)- Lifestyle factors (cig. Smoking, alcohol intake)- Certain occupation characteristics (electrical workers, farmers,
industrial occupants)- Diet (High fat intake, high glutamate intake, low fiber intake, low
antioxidant intake)- Trauma (skeletal trauma, fractures, severe electrical shock)- Vigorous physical activity ( heavy manual labor, athleticism)
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PATHOPHYSIOLOGY- Progressive degeneration and loss of motor neurons in the SC,
brainstem, and motor cortex- Brainstem nuclei for CN V, VII, IX, X, and XII and anterior horn
cells in SC- Brainstem nuclei for III,IV,VI (extraocular) usually spared - Motor neurons of Onufrowicz nucleus/ Onuf’s nucleus located
in the ventral margin of the anterior horn of S2 are also spared- control striated muscles of pelvic floor including sphincters
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PATHOPHYSIOLOGY- Sensory system and Spinocerebellar tracts spared- Denervation is compensated by reinnervation of healthy axons- Progression of ALS is contigous
- Cervical segments to cervical segments first- Spread locally within regions- Onset is usually assymetrical and focal at first
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CLINICAL MANIFESTATIONS- Impairments related to LMN pathology
- Most frequent presenting impairment: focal, assymetrical, muscle weakness either in LE or UE or bulbar muscles
- Cardinal sign: Muscle weakness- Weakness associated with LMN loss causes more significant
dysfunction than UMN loss- Cervical Extensor weakness is typical- Muscle weakness predispose to other secondary imp
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CLINICAL MANIFESTATIONS- Impairments related to LMN pathology
- Muscle weakness predispose to other secondary impairments:- Decreased ROM- Joint subluxation- Tendon shortening- Joint contractures commonly (claw-hand deformity)- Adhesive Capsulitis- Ambulation difficulties, deconditioning, impaired postural control
and balance- Losses of muscle force distal first before proximal
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CLINICAL MANIFESTATIONS- Impairments related to LMN pathology
- Fatigue- Atrophy- Fasciculations- Hyporeflexia, flaccidity, muscle cramping- Craps occur in uncommon site such as tongue, jaw, neck,
abdomen, UEs, hands, calf/ thigh- Paresthesias, pain in limbs
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CLINICAL MANIFESTATIONS- Impairments related to UMN pathology
- Spasticity, hyperreflexia, babinski, hoffman sign, clonus- Impairments related to Bulbar Pathology
- Spastic bulbar/ Flaccid bulbar palsy- Dysarthria
- weakness of tongue, muscles of lips, jaw, larynx and pharynx- Initial symptoms: inability to project voice (shouting, singing)- Nasal tone- Anarthric
- Dysphagia- Sialorrhea- Pseudobulbar Affect
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CLINICAL MANIFESTATIONS- Respiratory Impairments
- Loss of respiratory muscle strength- Decrease in VC- Eventual orthopnea, use of accessory muscles, dyspnea at rest,
weak cough- Cognitive Impairments
- Mild deficits to severe frontotemporal dementia (FTD)- 35.6% shoed significant cognitive impairment- More likely in bulbar onset than limb onset
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CLINICAL MANIFESTATIONS- Impairments related to UMN pathology
- Spasticity, hyperreflexia, babinski, hoffman sign, clonus- Impairments related to Bulbar Pathology
- Spastic bulbar/ Flaccid bulbar palsy- Dysarthria
- weakness of tongue, muscles of lips, jaw, larynx and pharynx- Initial symptoms: inability to project voice (shouting, singing)- Nasal tone- Anarthric
- Dysphagia- Sialorrhea- Pseudobulbar Affect
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DIAGNOSIS- With the exception of one genetic test, no definitive diagnostic
test or diagnostic biological marker exists for ALS- Laboratory studies, EMG, NCV, muscle and nerve biopsies,
neuroimaging techniques- Presence of (1) LMN signs by clinical, electrophysiological,
neuropathological examination, (2) UMN signs by clinical examination, (3) progression of disease within a region or to other regions
- El Escorial Criteria
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DISEASE COURSE- Progressive and deteriorating disease trajectory- In most patients, death occurs within 3 to 5 years after
diagnosis and usually results from respiratory failure
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PROGNOSIS- Patients less than 35 to 40 years of age at onset had better 5-
year survival rates- Limb onset have a better prognosis
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MANAGEMENT- Disease modifying agents
- No cure for ALS- Riluzole (Rilutek) glutamate inhibitor for treatment of ALS- 50 mg 2x a day, side effects: Liver toxicity, nausea, vomiting,
dizziness - Effects only survive for 2 to 3 months
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MANAGEMENT- Symptomatic Management
- Anti-cramping medications, Anti-spasticity medications, antidepressants, Percutaneous Endoscopic Gastrotomy, Ventilatory Support
- Management of cognitive and behavioral impairments- Management of Sialorrhea and Pseudobulbar Affect
- Anti-cholinergic medications- For thick mucus production: beta blockers- Tricyclic anti-depressants for pseudobulbar affect
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MANAGEMENT- Management of Dysphagia
- Dietary modifications- Maintaining adequate calories and hydration- PEG
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MANAGEMENT- Management of Muscle Cramps, Spasticity, Fasciculations, and
pain- Anticonvulsant medications such as phenytoin and
carbamazepine- Lorazepam for fasciculations, minimize caffeine and nicotine- NSAIDs for pain, analgesics- Morphine for terminal stages of ALS