Lab Studies:
Emergency Department Results (post-2L IV fluids):
<br>CK: 1033 U/L
<br>Sodium: 141 mmol/L
<br>Potassium: 4.4 mmol/L
<br>BUN: 21 mg/dL, Creatinine: 0.94 mg/dL
<br>Myoglobin: 162 ng/mL
<br>Glucose: 72 mg/dL
<br>Urinalysis: Trace protein, 1+ ketones
<br>Other electrolytes, hematology, and liver function studies were within normal limits.
<br>Electrolyte Testing (Korey Stringer Institute):
<br>Sweat Rate: 3.7 L/hour
<br>Sodium Loss: 5.6 g/hour (normal range: 0.18–1.2 g/hour)
<br>Potassium Loss: 1.24 g/hour
<br>Body temperature remained below 38.6 degrees Celsius during testing, with an average heart rate of 161 bpm (82% of predicted max). Fluid intake during the test was insufficient, resulting in a 2.5% loss of body mass.
<br>Genetic Testing:
<br>MATR3 gene: c.2128G>A (p.Ala710Thr), heterozygous variant of uncertain significance
<br>Additional testing for neuromuscular diseases was non-diagnostic.
Other Studies:
Electromyography (EMG): Non-diagnostic for upper and lower extremities.
Consultations:
Neurology
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