Amyotrophic lateral sclerosis (ALS) is a degenerative disease of the motor neuron system.
ALS is known as Charcot disease, because it was first described in 1869 by Jean-Martin Charcot.
Lateral sclerosis involves spinal cord lateral column changes as upper motor neuron axons degenerate and are replaced by astrocytes.
ALS is a deadly disease, with 3-year survival post onset of weakness. Aspiration pneumonia and immobility cause additional health issues. ALS is caused due to motor neuron system breakdown, that lead to various symptoms based on onset location and cell type.
Types of motor neuron disease as follows:
Classic ALS
Primary lateral sclerosis
Familial ALS
Epidemiology
About 5600 individuals in the US are diagnosed yearly with ALS, with an annual incidence rate of 2-3 per 100000, comparable to multiple sclerosis and higher than Huntington disease.
Lifetime risk of ALS at age 18 years old is 1 in 350 for men and 1 in 420 for women.European and US incidence rates consistent among age-adjusted population data.
Clusters with high ALS rates include Chamorro people in Guam, Marianas Island, Kii peninsula residents in Japan, and Auyu and Jakai people in southwest New Guinea.
Anatomy
Pathophysiology
ALS may be caused due to oxidative stress from free radical formation due to mutations in superoxide dismutase 1.
Discovering cytoskeletal proteins in cellular inclusions prompted investigation of neurofilament defects as a potential ALS cause and implicated proteasome system defects.
ALS is a neurodegenerative disease affecting the motor system due to a pathologic process spreading through the motor neuron system.
Peripheral Wallerian degeneration leads to axon collateral reinnervation of denervated muscle fibres.
Etiology
Interactions between genetic, environmental, and age risk factors cause sporadic ALS onset.
Evidence suggests genetic risk factors may impact disease initiation in sporadic ALS in addition to known gene mutations. Studying early processes in sporadic ALS initiation and spread within the motor system could lead to new treatments to stop progression.
Incidence samples for risk factors, prevalence samples for ALS Mendelian randomization.
Genetics
Prognostic Factors
ALS is deadly, with 3-year median survival from symptom onset, but 15% live 5 years or longer post-diagnosis.
Some ALS patients experience executive dysfunction prior to or after onset, while most do not have dementia.
Disease progression rate predicts survival, estimated by time from symptom onset to diagnosis.
Neurofilament Light is the most reliable biomarker for predicting disease progression rate, according to this meta-analysis.
Clinical History
Amyotrophic Lateral Sclerosis affects adults between the age of 40 to 70 years old.
Physical Examination
Assessment of Muscle Strength and Bulk
Pathological Reflexes
Examination of Swallowing and Respiratory Function
Age group
Associated comorbidity
Associated activity
Acuity of presentation
ALS symptoms develop slowly, starting with subtle signs that are often mistaken for other conditions.
Symptoms start with unequal weakness in limbs, that too in one hand or foot.
Differential Diagnoses
Multifocal Motor Neuropathy
Primary Lateral Sclerosis
Spinal Muscular Atrophy
Myasthenia Gravis
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
Hospitalization is needed for patients with critical ventilatory failure without proper support or end-of-life decisions.
Riluzole is the only ALS medication proven to extend life. ALS patients with depression, FTD, or frontal impairment are less likely to follow treatment recommendations and have worse outcomes.
Serum aminotransferase levels must be checked before and monthly for 3 months during riluzole treatment.
Limb stiffness treated with baclofen and tizanidine; increase baclofen dose if needed for better efficacy.
Both agents can cause drowsiness and potential loss of tone leading to falls in spasticity patients.
Consider using intrathecal baclofen for ALS or primary lateral sclerosis patients with upper motor neuron issues not responding to oral treatment.
Scopolamine patch helps patients when oral anticholinergics are ineffective.
Guaifenesin can thin secretions, but suction devices may be needed for removal.
Pain in ALS patients may result from immobility, muscle loss, decreased joint protection, and strained muscles in bony areas.
Patients with sleep complaints are evaluated for ventilatory issue using overnight polysomnography to diagnose accurately their condition.
The patient’s appetite decreases, and swallowing may be difficult in such cases consultation with specialist is recommended.
Lifestyle modification like intake of healthy nutritional supplements and proper hydration should be followed by patients.
Proper education and awareness about amyotrophic lateral sclerosis should be provided and its related causes, and how to stop it with management strategies.
Appointments with a neurologist and preventing recurrence of disorder is an ongoing life-long effort.
Use of Glutamate Inhibitors
Riluzole:
It is a neuroprotective drug that blocks glutamatergic neurotransmission in the CNS.
In the diagnosis phase, evaluation includes neurological examinations, electromyography, and nerve conduction studies to confirm diagnosis.
Pharmacologic therapy is very effective in the treatment phase as it includes use of glutamate inhibitors, neurologic agents, skeletal muscle relaxant and surgical intervention.
In supportive care and management phase, patients should receive required attention in the form of postoperative care and rehabilitation.
The regular follow-up visits with the neurologist are schedule to check the improvement of patients along with treatment response.
Indicated in patients with the above condition who have SOD1 (superoxide dismutase 1 gene)
100 mg intrathecally as a lumbar puncture
Loading dose- (1 dose every 14 days) x 3 doses
Maintenance dose- Every 28 days
tofersen does not underdo hepatic enzyme metabolism
Initial dose: one packet containing 1g taurursodiol /3g sodium phenylbutyrate orally daily for first three weeks
Maintenance dose: one packet orally twice a day
Dose Adjustments
Dosage Modifications
Hepatic impairment
Pharmacokinetics have not been studied
Mild: dose adjustment is not necessary; there have been no reports for safety issues in clinical studies.
Moderate/severe: do not use Renal impairment
Pharmacokinetics have not been studied
Mild: dose adjustment is not necessary; there have been no reports for safety issues in clinical studies.
Moderate/severe: do not use
Indicated for Amyotrophic Lateral Sclerosis
Initial dose: one packet of 3 gm of sodium phenylbutyrate /1 gm of taurursodiol orally every day for the first 3 weeks
Maintenance dose: one packet orally two times a day
Amyotrophic lateral sclerosis (ALS) is a degenerative disease of the motor neuron system.
ALS is known as Charcot disease, because it was first described in 1869 by Jean-Martin Charcot.
Lateral sclerosis involves spinal cord lateral column changes as upper motor neuron axons degenerate and are replaced by astrocytes.
ALS is a deadly disease, with 3-year survival post onset of weakness. Aspiration pneumonia and immobility cause additional health issues. ALS is caused due to motor neuron system breakdown, that lead to various symptoms based on onset location and cell type.
Types of motor neuron disease as follows:
Classic ALS
Primary lateral sclerosis
Familial ALS
About 5600 individuals in the US are diagnosed yearly with ALS, with an annual incidence rate of 2-3 per 100000, comparable to multiple sclerosis and higher than Huntington disease.
Lifetime risk of ALS at age 18 years old is 1 in 350 for men and 1 in 420 for women.European and US incidence rates consistent among age-adjusted population data.
Clusters with high ALS rates include Chamorro people in Guam, Marianas Island, Kii peninsula residents in Japan, and Auyu and Jakai people in southwest New Guinea.
ALS may be caused due to oxidative stress from free radical formation due to mutations in superoxide dismutase 1.
Discovering cytoskeletal proteins in cellular inclusions prompted investigation of neurofilament defects as a potential ALS cause and implicated proteasome system defects.
ALS is a neurodegenerative disease affecting the motor system due to a pathologic process spreading through the motor neuron system.
Peripheral Wallerian degeneration leads to axon collateral reinnervation of denervated muscle fibres.
Interactions between genetic, environmental, and age risk factors cause sporadic ALS onset.
Evidence suggests genetic risk factors may impact disease initiation in sporadic ALS in addition to known gene mutations. Studying early processes in sporadic ALS initiation and spread within the motor system could lead to new treatments to stop progression.
Incidence samples for risk factors, prevalence samples for ALS Mendelian randomization.
ALS is deadly, with 3-year median survival from symptom onset, but 15% live 5 years or longer post-diagnosis.
Some ALS patients experience executive dysfunction prior to or after onset, while most do not have dementia.
Disease progression rate predicts survival, estimated by time from symptom onset to diagnosis.
Neurofilament Light is the most reliable biomarker for predicting disease progression rate, according to this meta-analysis.
Amyotrophic Lateral Sclerosis affects adults between the age of 40 to 70 years old.
Assessment of Muscle Strength and Bulk
Pathological Reflexes
Examination of Swallowing and Respiratory Function
ALS symptoms develop slowly, starting with subtle signs that are often mistaken for other conditions.
Symptoms start with unequal weakness in limbs, that too in one hand or foot.
Multifocal Motor Neuropathy
Primary Lateral Sclerosis
Spinal Muscular Atrophy
Myasthenia Gravis
Hospitalization is needed for patients with critical ventilatory failure without proper support or end-of-life decisions.
Riluzole is the only ALS medication proven to extend life. ALS patients with depression, FTD, or frontal impairment are less likely to follow treatment recommendations and have worse outcomes.
Serum aminotransferase levels must be checked before and monthly for 3 months during riluzole treatment.
Limb stiffness treated with baclofen and tizanidine; increase baclofen dose if needed for better efficacy.
Both agents can cause drowsiness and potential loss of tone leading to falls in spasticity patients.
Consider using intrathecal baclofen for ALS or primary lateral sclerosis patients with upper motor neuron issues not responding to oral treatment.
Scopolamine patch helps patients when oral anticholinergics are ineffective.
Guaifenesin can thin secretions, but suction devices may be needed for removal.
Neurology
Pain in ALS patients may result from immobility, muscle loss, decreased joint protection, and strained muscles in bony areas.
Patients with sleep complaints are evaluated for ventilatory issue using overnight polysomnography to diagnose accurately their condition.
The patient’s appetite decreases, and swallowing may be difficult in such cases consultation with specialist is recommended.
Lifestyle modification like intake of healthy nutritional supplements and proper hydration should be followed by patients.
Proper education and awareness about amyotrophic lateral sclerosis should be provided and its related causes, and how to stop it with management strategies.
Appointments with a neurologist and preventing recurrence of disorder is an ongoing life-long effort.
Neurology
Riluzole:
It is a neuroprotective drug that blocks glutamatergic neurotransmission in the CNS.
It is a combination drug indicated for pseudobulbar affect and symptoms related to ALS which causes sudden episodes of laughing or crying.
Neurology
Percutaneous Endoscopic Gastrostomy is indicated to provide nutritional support when patients have difficulty swallowing.
Neurology
In the diagnosis phase, evaluation includes neurological examinations, electromyography, and nerve conduction studies to confirm diagnosis.
Pharmacologic therapy is very effective in the treatment phase as it includes use of glutamate inhibitors, neurologic agents, skeletal muscle relaxant and surgical intervention.
In supportive care and management phase, patients should receive required attention in the form of postoperative care and rehabilitation.
The regular follow-up visits with the neurologist are schedule to check the improvement of patients along with treatment response.
Amyotrophic lateral sclerosis (ALS) is a degenerative disease of the motor neuron system.
ALS is known as Charcot disease, because it was first described in 1869 by Jean-Martin Charcot.
Lateral sclerosis involves spinal cord lateral column changes as upper motor neuron axons degenerate and are replaced by astrocytes.
ALS is a deadly disease, with 3-year survival post onset of weakness. Aspiration pneumonia and immobility cause additional health issues. ALS is caused due to motor neuron system breakdown, that lead to various symptoms based on onset location and cell type.
Types of motor neuron disease as follows:
Classic ALS
Primary lateral sclerosis
Familial ALS
About 5600 individuals in the US are diagnosed yearly with ALS, with an annual incidence rate of 2-3 per 100000, comparable to multiple sclerosis and higher than Huntington disease.
Lifetime risk of ALS at age 18 years old is 1 in 350 for men and 1 in 420 for women.European and US incidence rates consistent among age-adjusted population data.
Clusters with high ALS rates include Chamorro people in Guam, Marianas Island, Kii peninsula residents in Japan, and Auyu and Jakai people in southwest New Guinea.
ALS may be caused due to oxidative stress from free radical formation due to mutations in superoxide dismutase 1.
Discovering cytoskeletal proteins in cellular inclusions prompted investigation of neurofilament defects as a potential ALS cause and implicated proteasome system defects.
ALS is a neurodegenerative disease affecting the motor system due to a pathologic process spreading through the motor neuron system.
Peripheral Wallerian degeneration leads to axon collateral reinnervation of denervated muscle fibres.
Interactions between genetic, environmental, and age risk factors cause sporadic ALS onset.
Evidence suggests genetic risk factors may impact disease initiation in sporadic ALS in addition to known gene mutations. Studying early processes in sporadic ALS initiation and spread within the motor system could lead to new treatments to stop progression.
Incidence samples for risk factors, prevalence samples for ALS Mendelian randomization.
ALS is deadly, with 3-year median survival from symptom onset, but 15% live 5 years or longer post-diagnosis.
Some ALS patients experience executive dysfunction prior to or after onset, while most do not have dementia.
Disease progression rate predicts survival, estimated by time from symptom onset to diagnosis.
Neurofilament Light is the most reliable biomarker for predicting disease progression rate, according to this meta-analysis.
Amyotrophic Lateral Sclerosis affects adults between the age of 40 to 70 years old.
Assessment of Muscle Strength and Bulk
Pathological Reflexes
Examination of Swallowing and Respiratory Function
ALS symptoms develop slowly, starting with subtle signs that are often mistaken for other conditions.
Symptoms start with unequal weakness in limbs, that too in one hand or foot.
Multifocal Motor Neuropathy
Primary Lateral Sclerosis
Spinal Muscular Atrophy
Myasthenia Gravis
Hospitalization is needed for patients with critical ventilatory failure without proper support or end-of-life decisions.
Riluzole is the only ALS medication proven to extend life. ALS patients with depression, FTD, or frontal impairment are less likely to follow treatment recommendations and have worse outcomes.
Serum aminotransferase levels must be checked before and monthly for 3 months during riluzole treatment.
Limb stiffness treated with baclofen and tizanidine; increase baclofen dose if needed for better efficacy.
Both agents can cause drowsiness and potential loss of tone leading to falls in spasticity patients.
Consider using intrathecal baclofen for ALS or primary lateral sclerosis patients with upper motor neuron issues not responding to oral treatment.
Scopolamine patch helps patients when oral anticholinergics are ineffective.
Guaifenesin can thin secretions, but suction devices may be needed for removal.
Neurology
Pain in ALS patients may result from immobility, muscle loss, decreased joint protection, and strained muscles in bony areas.
Patients with sleep complaints are evaluated for ventilatory issue using overnight polysomnography to diagnose accurately their condition.
The patient’s appetite decreases, and swallowing may be difficult in such cases consultation with specialist is recommended.
Lifestyle modification like intake of healthy nutritional supplements and proper hydration should be followed by patients.
Proper education and awareness about amyotrophic lateral sclerosis should be provided and its related causes, and how to stop it with management strategies.
Appointments with a neurologist and preventing recurrence of disorder is an ongoing life-long effort.
Neurology
Riluzole:
It is a neuroprotective drug that blocks glutamatergic neurotransmission in the CNS.
It is a combination drug indicated for pseudobulbar affect and symptoms related to ALS which causes sudden episodes of laughing or crying.
Neurology
Percutaneous Endoscopic Gastrostomy is indicated to provide nutritional support when patients have difficulty swallowing.
Neurology
In the diagnosis phase, evaluation includes neurological examinations, electromyography, and nerve conduction studies to confirm diagnosis.
Pharmacologic therapy is very effective in the treatment phase as it includes use of glutamate inhibitors, neurologic agents, skeletal muscle relaxant and surgical intervention.
In supportive care and management phase, patients should receive required attention in the form of postoperative care and rehabilitation.
The regular follow-up visits with the neurologist are schedule to check the improvement of patients along with treatment response.
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