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Evaluation for Disease in Other Organ Systems
| Organ System | Testing |
|---|---|
| Brain | Neurologic exam, MR/MR spectroscopy, EEG, CSF |
| Heart | Echocardiogram, EKG |
| Muscle | Muscle biopsy |
| Eyes | Detailed ophthalmologic exam |
| Kidney | Electrolytes, serum and urine phosphorus and creatinine, urine amino acids, urinalysis, urine protein |
| Endocrine | HbA1c, morning cortisol |
| Pancreas (exocrine) | Fecal pancreatic elastase, endoscopic pancreatic stimulation test |
| Hearing | Hearing testing |
