General status | Decreased stamina and exercise; psychologic co-morbidities; school, work and sport participation and performance; smoking |
 | SF-36® Health Survey or PedsQL™ |
Pain | Onset; quality; intensity; distribution; abnormal responses to stimuli; exacerbating factors; pain meds (past, current), McGill Pain Questionnaire, Brief Pain Questionnaire, Pediatric Pain Questionnaire |
Gastrointestinal | Abdominal cramps; (post-prandial) diarrhea; number of bowel movements/day; bloating; nausea |
Family history | Renal/cardiac failure; TIA or stroke; early death |
Complete physical examination | |
 | Including height; weight; pulse irregularity; supine and standing blood pressure; vascular skin lesions (Figure 1); cornea clouding (requires slit lamp exam, Figure 2) |
Neurologic examination | |
 | Thermal perception (cold/warm water tubes, a cold and warm tuning fork or reflex hammer, or thermal discs at dorsal foot, e.g., "Minnesota Thermal Disks" [81]) |
 | Pain perception (pinprick to skin of limbs and trunk) |
 | Light touch perception (cotton swab or lightly touching skin, e.g., on legs vs. feet, testing distal vs. proximal sensation) |
 | Vibration perception (vibrating tuning fork (Rydell-Seiffer®) to 1st metatarsal bone) |
 | Sensorineural hearing loss (Rinne test, three-tone audiometry) |
Definitive diagnosis | |
 | α-Galactosidase A enzyme activity in leukocytes or whole blood in males |
 | GLA mutation analysis in females (known family mutation testing or full gene sequencing) |
Genetic risk assessment | Diagnosis should be followed by genetic testing of the entire family |
Severity scoring | |
 | Neuropathy Staging Scheme [91], Neuropathy Symptoms and Change Questionnaire [78] |