Clinical Correlations Flashcards
What causes meralgia paresthetica?
Pressure on the Lateral Femoral Cutaneous N. (L2,3)

What are the symptoms of meralgia paresthetica?
Variable temperature sensations in the thigh
Describe the pathological progression of ischial/throchanteric bursitis
Friction bursitis pathologic progression: fluid filled spaces, friction rub, inflammation, fibrosis, ca++ deposits, rupture of bursa or associated tendon
Describe creatine kinase
An enzyme (three isoforms, found in the heart, brain, lung & skeletal muscle) which catalyzes the conversion of phosphocreatine + ADP → ATP (it also does the reverse rxn). Increased serum CK is an indication of; MI, rhabdomyolysis, muscular dystrophy, myasthenia gravis, myositis, acute renal failure, and certain drug use (Acronym = “MRDRD)”.
Carnitine Deficiency Syndrome
Several etiologies, and symptoms can be dynamic. Primary = defective carnitine transporter, so FA can’t get past the outer mitochondrial membrane. Secondary = Carnitine inaccessible because it cannot be removed from acyl group, (eg a problem with CPT-II). The result is a significant reduction of beta-oxidation
Describe Fatty Acid Transport Defects
Several etiologies (eg deficiency in CPT I (on inside of outer membrane), CPT II (on inside of inner membrane), or a defect in carnitine/acylcarnitine translocase). Also results in a significant reduction of beta-oxidation.
Defects of beta-oxidation (Mitochondrial) enzymes
Most present with myopathic symptoms or signs that are usually progressive, but dynamic symptoms may also be observed (Recall that long-chain FAs represent a major source of energy for prolonged, low-intensity exercise lasting more than 40-50 minutes.
Describe AMP deaminase deficiency
The enzyme which converts 2 AMP → ATP + IMP + NH3. Deficiency of this enzyme is a common cause of exercise-induced myopathy, and probably the most common cause of metabolic myopathy in humans.
+ EMG and - NCV indicates what?
Myopathy
+ EMG and + NCV indicates
Neuropathy
Describe myasthenia gravis
Immune mediated loss of Ach receptor → decreased ability to generate an end-plate potential → muscle weakness. Although nerve conduction is normal, motor response diminishes after repeated stimulation. 9
What percentage of patients show opthalmological manifestations of myasthenia gravis? What are the manifestations?
90%
Ptosis, blurred vision and general weakness
What worsens the symptoms of myastenia gravis?
Increased activity worsens fatigue and weakness
What can be used to treat myasthenia gravis? How does it work?
Edrophonium/Tensilon (an acetylcholinesterase inhibitor), which inhibits the breakdown of Ach, thus allowing ACh to accumulate in the NMJ.
[Ach] ↑ at the muscle end plate -> increased muscle strength. Application of ice packs also slows AChE enzyme, so it provides similar (but short term) effects to patients presenting with ptosis.
What is the mechanism behind Lambert–Eaton myasthenic syndrome (LEMS, a paraneoplastic syndrome)?
mmune mediated attack directed against voltage-gated calcium channels (VGCCs) on the presynaptic motor nerve terminal → loss of functional VGCCs → Ca-mediated exocytosis is greatly diminished.
What is a noteable difference between myasthenia gravis and Lambert–Eaton myasthenic syndrome?
Unlike myasthenia gravis, repeated stimulation → enough Ca-influx via functioning channels to trigger synaptotagmin (T-snare) → exocytosis of ACh-containing vesicles.
How do tetanus and botulinum toxins function? Symptoms?
hether Tetanus or Botulinum, these neurotoxin endoproteinases target the snare complex. Whether they target V-snares or T-snares, fusion of ACh-containing vesicles is blocked → dry mouth, double vision, difficulty swallowing and speaking, vomiting and diarrhea (Botox)
Hyperkalemic Periodic Paralysis is an utosomal dominant trait which affects the skeletal muscle gene SCN4A, located on chromosome 17. What is the mechanism of action?
This mutation impairs fast-inactivation of voltage-gated Na+ channels → Small, persistent influx of Na+ → Depolarizes the membrane → hyperexcitability.
What clinical symptoms are associated with hyperkalemic periodic paralysis?
Clinically, severe muscle myotonia, weakness and/or paralysis are observed during a period of rest AFTER exercise, stress, fasting, or ingestion of large amounts of K+ (eg bananas).
Malignant Hyperthermia - a rare, autosomal dominant trait, which results in a defective __________.
RYR1 gene, impacting ryanodine on the sarcoplasmic reticulum membrane.
Describe malignant hyperthermia
his disorder of Ca regulation in skeletal muscle → uncontrolled release of Ca2+ from the SR → rigidity, tachycardia, hyperventilation, and hyperthermia & acute hyper-metabolic state within muscle tissue (prolonged contraction). MH can be triggered by volatile anesthesia and muscle relaxers, resulting in a potentially fatal increase in body temperature.
Describe Multiple Sclerosis
A T-cell mediated autoimmune disorder, in which myelin in CNS (produced by oligodendrocytes) is attacked by one’s own immune system.
Trigger and age of onset of MS? What neurons are impacted? What is the lost myelin replaced with?
Trigger is unclear, middle age onset.
Both sensory and motor neurons impacted.
Scar tissue, substantially reducing conduction velocity
What often worsens MS symptoms? Conversely, what often improves them?
Symptoms in patients with M.S. are often worsened with increased body temperature, which affects the gating kinetics of voltage-gated Na+ channels. Treatments include cooling temperature and K+ channel blockers (which slow the repolarization phase, and prolong the AP)







