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Questions and Answers
What is a defining characteristic of Amyotrophic Lateral Sclerosis?
At what age range does Amyotrophic Lateral Sclerosis typically onset?
Which symptom is NOT typically associated with Duchenne Muscular Dystrophy?
Which of the following conditions is characterized by an autoimmune attack on the peripheral nerves?
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What is a common complication associated with Guillain-Barre syndrome?
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Which of the following best describes the progression of Duchenne Muscular Dystrophy?
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In which phase of Guillain-Barre syndrome does the patient's condition stabilize but show no evidence of recovery?
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What is the most serious respiratory complication of Amyotrophic Lateral Sclerosis?
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Which reflexes might be abnormal in a patient with Amyotrophic Lateral Sclerosis?
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What is a typical initial symptom of Duchenne Muscular Dystrophy in young children?
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What is one of the key treatments for Guillain-Barre syndrome during its recovery phase?
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What is a characteristic feature of muscle weakness in Spinal Muscle Atrophy?
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What is the role of investigational medications in treating Duchenne Muscular Dystrophy?
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What commonly observed gait abnormality occurs in Duchenne Muscular Dystrophy?
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Study Notes
Amyotrophic Lateral Sclerosis (ALS)
- A degenerative disease affecting both upper and lower motor neurons.
- Characterized by protein buildup in the motor cortex and degeneration of motor neurons in the brain and spinal cord.
- Symptoms include muscle weakness, atrophy, fasciculations, cramps, spasticity, and difficulty swallowing (dysphagia) and speaking (dysarthria).
- Emotional lability (uncontrollable laughter and crying) and mild-moderate cognitive impairment are also possible.
- Onset typically occurs between ages 40 and 60, with males being more affected.
- Progresses gradually, with survival averaging 2-5 years.
- Treatments aim to slow progression, with ventilation (tracheostomy) extending lifespan by 2-4 years.
- No cure currently exists.
Duchenne Muscular Dystrophy (DMD)
- A genetic disorder caused by a mutation in the X-linked dystrophin gene, leading to a lack of dystrophin protein in muscles.
- Affects primarily lower motor neurons.
- Presents in early childhood with proximal muscle weakness, difficulty with mobility, and calf hypertrophy.
- Characterized by progressive muscle degeneration and weakness, leading to decreased muscle mass, waddling gait, and eventually, loss of ambulation.
- Muscle weakness and atrophy typically follow a pattern, starting proximally and progressing distally.
- Complications include kyphoscoliosis, cardiac and respiratory issues.
- Investigational medication, Viltepso, aims to increase dystrophin production.
Guillain-Barré Syndrome (GBS)
- An autoimmune disorder affecting peripheral nerves, causing demyelination and damage by the immune system.
- Primarily affects lower motor neurons.
- Symptoms include ascending muscle weakness, flaccid paralysis, sensory disturbances (numbness, tingling, and pain), and autonomic dysfunction (racing heart, blood pressure fluctuations).
- Onset is rapid and can progress to respiratory failure if the diaphragm is affected.
- Different subtypes exist, including Acute Inflammatory Demyelinating Polyradiculoneuropathy (AIDP), Miller Fisher Syndrome (MFS), Acute Motor Axonal Neuropathy (AMAN), and Acute Motor-Sensory Axonal Neuropathy (AMSAN).
- Recovery occurs in phases with stabilization followed by gradual improvement over months to years.
- Treatment involves plasmapheresis or intravenous immunoglobulin (IVIg), along with supportive care and rehabilitation.
Spinal Muscular Atrophy (SMA)
- A genetic disorder caused by a mutation in the survival motor neuron 1 (SMN1) gene.
- Affects lower motor neurons.
- Characterized by progressive degeneration of motor neurons in the spinal cord, leading to muscle weakness and atrophy.
- Severity varies depending on the type of SMA, with Type 1 being the most severe, often leading to death in infancy.
- Treatments include gene therapy (Spinraza) and Nusinersen, which have shown promise in slowing disease progression and improving function.
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Description
Explore the characteristics and symptoms of Amyotrophic Lateral Sclerosis (ALS) and Duchenne Muscular Dystrophy (DMD) in this informative quiz. Learn about their causes, progression, and current treatment options available for these neuromuscular diseases. Perfect for students and medical professionals seeking to deepen their understanding of these conditions.
