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pedia - hypotonia

med22

QuestionAnswer
What is the definition of Weakness? Weakness is a reduction in muscle strength, commonly tested by assessing the ability to move a body part against gravity or resistance.
What is the definition of Hypotonia? Hypotonia, or "floppiness," is a reduction in muscle tone (resistance to passive stretch) and is not necessarily accompanied by weakness.
Which component of the motor system is affected in a Lower Motor Neuron Lesion (LMNL)? The anterior horn cells, nerve roots, peripheral nerves, neuromuscular junction, or muscle.
List four key features of a Lower Motor Neuron Lesion (LMNL). Weakness, hypotonia, hyporeflexia (or areflexia), and muscle atrophy/fasciculations.
What is the key difference in reflexes between an UMN lesion and an LMN lesion? UMN lesions cause hyperreflexia; LMN lesions cause hyporeflexia or areflexia.
What two historical features help differentiate between central (UMN) and peripheral (LMN) causes of hypotonia in infants? Infants with central hypotonia are typically alert with normal strength, while infants with peripheral hypotonia are weak with reduced alertness and poor feeding.
What is the most common genetic cause of infant mortality? Spinal Muscular Atrophy (SMA).
What is the genetic defect in Spinal Muscular Atrophy (SMA)? Deletion or mutation in the Survival Motor Neuron 1 (SMN1) gene.
What type of weakness is characteristic of Spinal Muscular Atrophy (SMA)? Symmetrical, progressive proximal muscle weakness, with preservation of eye movements and facial muscles.
What is the primary treatment for SMA? SMN-enhancing therapies, such as Nusinersen (Spinraza) or gene replacement therapy (e.g., Onasemnogene Abeparvovec).
What is Guillain-Barré Syndrome (GBS)? An acute, post-infectious, autoimmune disorder causing demyelination of peripheral nerves.
What is the classic presentation triad for Guillain-Barré Syndrome (GBS)? Acute onset of ascending (starting in legs), symmetric weakness, and areflexia.
What is the key life-threatening complication to monitor for in Guillain-Barré Syndrome (GBS)? Respiratory failure due to weakness of the diaphragm and respiratory muscles.
What is the characteristic finding in the Cerebrospinal Fluid (CSF) analysis in GBS? Albuminocytologic dissociation (high protein with a normal white blood cell count).
What are the two specific treatments for GBS? Intravenous Immunoglobulin (IVIG) and plasma exchange (plasmapheresis).
What is the pathophysiology of Myasthenia Gravis (MG)? An autoimmune disorder where antibodies block or destroy the Acetylcholine (ACh) receptors at the Neuromuscular Junction (NMJ).
What is the hallmark symptom of Myasthenia Gravis? Fatigable weakness, which worsens with activity and improves with rest.
What class of medication is the first-line treatment for Myasthenia Gravis? Acetylcholinesterase inhibitors (e.g., Pyridostigmine).
What is the cause of Infant Botulism? Ingestion of Clostridium botulinum spores (often from honey in infants younger than 1 year), leading to toxin release.
What part of the motor system is directly affected by the Botulinum Toxin? The neuromuscular junction, by irreversibly blocking the release of Acetylcholine (ACh).
What is the classic triad of symptoms for Infant Botulism? Constipation, generalized weakness, and ptosis (droopy eyelids).
What is the specific treatment for Infant Botulism? Human Botulism Immune Globulin (BabyBIG).
What is the underlying cause of Duchenne Muscular Dystrophy (DMD)? A genetic mutation leading to a deficiency of the protein Dystrophin.
What is the characteristic initial sign of DMD observed when a child attempts to rise from a squatting position? Gowers' sign (using hands to "climb up" the legs).
What laboratory test is typically highly elevated in Duchenne Muscular Dystrophy? Creatine Kinase (CK) levels.
What is the initial management for any acute onset of severe weakness or hypotonia? Emergency measures focusing on Airway, Breathing, and Circulation (ABCs), especially assessing respiratory function.
Created by: MeanHeem
 

 



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