Clinmed2test3: Neurodegenerative and Demyelinating Disease ppt:

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Questions and Answers

What is the primary pathogenesis of Multiple Sclerosis?

Autoimmune destruction of neurons

Mitochondrial dysfunction and oxidative stress

Immune-mediated inflammation and demyelination (correct)

Viral infection of the central nervous system

Which of the following is a risk factor for developing Multiple Sclerosis?

History of traumatic brain injury

Family history of Multiple Sclerosis (correct)

Low socioeconomic status

Obesity

What is the typical age range for the initial symptoms of Multiple Sclerosis to appear?

10-20 years of age

20-40 years of age (correct)

40-60 years of age

60-80 years of age

What is the most common type of Multiple Sclerosis?

Relapsing Remitting (RRMS) Signup and view all the answers

What is the primary difference between Relapsing Remitting (RRMS) and Secondary Progressive (SPMS) Multiple Sclerosis?

Rate of disease progression Signup and view all the answers

What is the characteristic feature of Primary Progressive (PPMS) Multiple Sclerosis?

Gradual worsening of symptoms with no relapses Signup and view all the answers

What percentage of people diagnosed with relapsing MS develop secondary progressive MS?

8/10 Signup and view all the answers

Which type of MS is generally associated with a better prognosis?

Relapsing-remitting MS Signup and view all the answers

What is the association between high lesion load on MRI early in the disease and long-term disability?

Higher lesion load is associated with greater disability Signup and view all the answers

Which of the following is a cause of pseudo-relapse in MS?

All of the above Signup and view all the answers

What is the typical presentation of optic neuritis in MS?

Painful, monocular visual loss that evolves over several hours to a few days Signup and view all the answers

What is the purpose of oligoclonal IgG bands in CSF analysis?

To diagnose MS Signup and view all the answers

What is the goal of disease-modifying therapies in MS?

To reduce the risk of acute inflammation and disability progression Signup and view all the answers

What is the approach to medication selection in MS?

Continuous decision-making process Signup and view all the answers

What is the recommendation for DMTs during pregnancy in MS?

Stop DMTs during pregnancy Signup and view all the answers

What is the effect of pregnancy on MS relapse rates?

Pregnancy may be protective for relapse Signup and view all the answers

Which of the following signs is commonly associated with Upper Motor Neuron (UMN) lesions in patients with ALS?

Babinski reflex Signup and view all the answers

What is the primary purpose of Electromyography (EMG) in the evaluation of ALS patients?

To confirm the presence of denervation Signup and view all the answers

What is the estimated average increase in survival time associated with the use of Riluzole in ALS patients?

2 months Signup and view all the answers

Which of the following criteria is used to evaluate the presence of Upper and Lower Motor Neuron signs in ALS patients?

All of the above Signup and view all the answers

What is the primary goal of Symptomatic Therapies in the management of ALS patients?

To maintain function, safety, and comfort Signup and view all the answers

Which of the following is a characteristic feature of Gullain-Barré Syndrome?

Distal to proximal progression Signup and view all the answers

What is the primary pathophysiological mechanism of Myasthenia Gravis?

Autoimmune destruction of acetylcholine receptors Signup and view all the answers

What is the most common cause of acute flaccid paralysis in healthy infants and children?

Gullain-Barré Syndrome Signup and view all the answers

Which of the following is a characteristic feature of Amyotrophic Lateral Sclerosis (ALS)?

Upper and lower motor neuron findings with cognitive changes Signup and view all the answers

Which of the following is a potential antecedent to Gullain-Barré Syndrome?

C. jejuni infection Signup and view all the answers

What is the primary goal of management in Gullain-Barré Syndrome?

To reduce the risk of respiratory failure Signup and view all the answers

Which of the following is a characteristic feature of the M-F variant of Gullain-Barré Syndrome?

Serum IgG to GQ1b Signup and view all the answers

What is the prognosis for most patients with Myasthenia Gravis?

Maximal extent at 3 years in majority of patients Signup and view all the answers

What is the primary difference between the Ocular and Generalized types of Myasthenia Gravis?

Type of muscle weakness Signup and view all the answers

What is the average onset age for Amyotrophic Lateral Sclerosis (ALS)?

56-63 years Signup and view all the answers

Study Notes

Multiple Sclerosis (MS)

Burden on Patients with MS (PwMS)

Wide range of symptoms, including loss of vision, ataxia, tremor, bowel incontinence, urinary incontinence, generalized pain, fatigue, memory and learning problems, depression, and anxiety
Initial symptoms often appear between 20 and 40 years of age

Pathophysiology

Etiology: Unknown
Pathogenesis: Central Nervous System (CNS) immune-mediated inflammation and demyelination, along with axonal degeneration

Risk Factors

Genetic: Family History, Specific Genes (HLA-DRB1), Caucasian, Female
Environmental: Ambient UV Radiation, Dietary (Vitamin D), Infectious (EBV), Tobacco Use

Types of MS

Relapsing (RRMS)
- Most common type
- Characterized by relapses (symptoms getting worse) followed by recovery (remission)
- Disability doesn't worsen between relapses, but can worsen after each relapse
Secondary Progressive (SPMS)
- Have increasing disability, but no relapses
- Typically occurs 15-20 years after diagnosis
Primary Progressive (PPMS)
- Neurologic functions worsen steadily from the beginning
- No symptom flare-ups (relapses) and no recovery (remission)

Prognosis

Relapsing course is generally associated with a better prognosis than a progressive course
High lesion load on MRI early in the disease is associated with greater long-term disability
Psychosocial stress has been linked to an increased risk of relapse and pseudo-relapse

Clinical Features

History: Single episode or multiple episodes of neurological impairment, separated by a period of time with less or no symptoms
Neurocognitive: Cognitive impairment
Motor - Somatic: Spasticity, Weakness, Tremor
Motor - Autonomic: Sexual Dysfunction, Overactive Bladder, Underactive Bladder
Sensory: Visual Impairment, Trigeminal Neuralgia, Sensory Disturbance
Other: Fatigue, Seizure, Lhermitte's Sign, Uhthoff Phenomenon

Relapse, Remission, & Pseudo-Relapse

Pseudo-Relapse: Caused by infectious, metabolic, physiologic stress, or psychosocial stress
Relapse: Characterized by new symptoms or worsening of existing symptoms
Remission: Symptom improvement or recovery

Optic Neuritis

One of the initial MS events
Pathogenesis: Inflammatory demyelination of the optic nerve
Clinical Features: Painful, monocular visual loss, often with papillitis
Long-term: Relative afferent pupillary defect, color desaturation, optic atrophy
Diagnostic Studies: Ophthalmologic examination, MRI brain and optic nerves
Management: High dose steroids
Prognosis: MS presenting symptom in 15-20% of patients, often with complete visual improvement

Transverse Myelitis

General: Idiopathic, often post-infectious
Secondary to multiple sclerosis, neuromyelitis optica, and acute disseminated encephalomyelitis
Pathogenesis: Inflammatory demyelination of the spinal cord
Clinical Features: Rapid onset, weakness, sensory alterations, and bowel/bladder dysfunction
Diagnostic Studies: MRI brain and spine, CSF for markers of secondary causes
Management: High dose steroids
Prognosis: MS presenting symptom in 5-10% of patients, often with partial recovery

Diagnostic Studies

Magnetic Resonance Imaging (MRI): MS most commonly involves cerebral hemispheres, periventricular regions
Cerebrospinal Fluid Analysis:
- Description: Clear, Colorless
- Cell Count: Usually < 5/mm3, Rarely > 50/mm3
- Protein: Normal or slightly elevated (rarely > 100/dL)
- Glucose: Normal
- IgG Index: Elevated
- Oligoclonal IgG Bands >4
Optic Coherence Testing: Measures retinal nerve thickness, used in patient with recurrent optic neuritis and normal MRI, or differentiating NMSOD from MS

Management

Relapsing:
- Acute Inflammation: High dose corticosteroids
- Disease-Modifying Therapy: Immunomodulation or immunosuppression
- Associated Neurological Symptoms: Treatments vary
Progressive:
- Acute Inflammation: High dose corticosteroids
- Disease-Modifying Therapy: Immunomodulation or immunosuppression
- Associated Neurological Symptoms: Treatments vary
No cure, but the disease is manageable with lifelong treatment
Continuous decision-making process for treatment, considering patient preferences, efficacy, safety profile, side effects, route of administration, and cost

Gullain-Barré Syndrome

Most common cause of acute flaccid paralysis in healthy infants and children
Neuromuscular emergency
Pathophysiology: immune-mediated demyelination or axon injury leading to dysfunction of peripheral nerves
Potential antecedents: infection, immunization, surgery, trauma, bone marrow transplant, and systemic disorders
Clinical features: 4 phases, progressive, mostly symmetric, motor > sensory impairment, distal to proximal
Evaluation: Brighton criteria, NCS, CSF, MRI neuroaxis, and M-F variant
Management: inpatient, plasmapheresis, intravenous immunoglobulin, mechanical ventilation assistance
Prognosis: most experience continued progression for up to two weeks, followed by a plateau phase, and then gradual recovery

Myasthenia Gravis

Bimodal onset: 30 and 50
Pathophysiology: autoimmune destruction of acetylcholine receptors on the surface of skeletal muscles
Clinical features: insidious onset, fluctuating, muscle weakness, fatigability, axial and limb muscles, cranial nerves, and respiration
Symptoms improve with rest
Ocular type: ptosis, EOM weakness
Lambert-Eaton type: proximal weakness, can be associated with cancer
Evaluation: antibody testing, serum AChR antibodies, ice pack test, and CT or MRI of chest for thymoma
Management: cholinesterase inhibition, pyridostigmine, immunotherapy, prednisone, and IVIG or plasmapheresis
Prognosis: maximal extent at 3 years in majority of patients, course may be progressive or relapsing-remitting

Amyotrophic Lateral Sclerosis (ALS)

Average onset: 56-63 years
Pathophysiology: neurodegenerative, protein accumulation, oxidative stress, inflammation, death of upper and lower motor neurons
Genetic factors, including mutations, sporadic (90%)
Clinical features: upper limb, lower limb, bulbar, cognitive changes, no sensory symptoms, upper motor neuron and lower motor neuron findings
Upper motor neuron findings: increased muscle tone, spasticity, hyperactive deep tendon reflexes, pathologic reflexes
Lower motor neuron findings: decreased muscle tone, muscle atrophy, fasciculations, reduced or absent deep tendon reflexes
Pseudobulbar affect: episodic, sudden uncontrollable and inappropriate laughing or crying
Evaluation: upper and lower motor neuron signs in 3 regions, electromyography, denervation, genetic testing
Management: goals of care, slow disease progression, maintain function, safety, comfort, two types of therapies (disease modifying and symptomatic)
Disease modifying therapies: riluzole, oral therapy, prolongs survival by an average of 2 months, may improve quality of life

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Description

This quiz covers the pathophysiology, etiology, and risk factors of Multiple Sclerosis, including the central nervous system, immune-mediated inflammation, and demyelination. It also explores the genetic and family history aspects of the disease.