Clinical component | Evaluation (selected) |
---|---|
Myopathy | CPK level (serum) |
 | EMG/NCS |
Hemolytic Anemia | Reticulocyte cell count |
 | Low haptoglobin |
 | Acanthocytosis |
Late-onset neurological syndrome | Â |
   Cerebral atrophy | CT/MRI |
   Neuropathy | EMG/NCS |
   Huntington's chorea-like disease | CT/MRI |
   Neuropsychological and cognitive impairment | Neuropsychological testing |
   Myopathy/DMD | EMG/NCS |
 | Muscle biopsy* |
   Seizures | EEG |
Glomerulopathy with renal failure | Serum creatinine level |
 | 24 hour urine analysis |
 | Renal imaging |
 | +/- kidney biopsy |
Cardiovascular disease | Â |
   Cardiomyopathy | ECHO |
   Arrythmia | EPS |