Lab Studies:
Emergency Department Results (post-2L IV fluids):
CK: 1033 U/L
Sodium: 141 mmol/L
Potassium: 4.4 mmol/L
BUN: 21 mg/dL, Creatinine: 0.94 mg/dL
Myoglobin: 162 ng/mL
Glucose: 72 mg/dL
Urinalysis: Trace protein, 1+ ketones
Other electrolytes, hematology, and liver function studies were within normal limits.
Electrolyte Testing (Korey Stringer Institute):
Sweat Rate: 3.7 L/hour
Sodium Loss: 5.6 g/hour (normal range: 0.18–1.2 g/hour)
Potassium Loss: 1.24 g/hour
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.
Genetic Testing:
MATR3 gene: c.2128G>A (p.Ala710Thr), heterozygous variant of uncertain significance
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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