Table 1. Clinical Characteristics of Nav 1.9 Channelopathy: Our 3 patients and previous reports*.
| Clinical characteristics | Our study | Leipold E, 2013 | Wood CG, 2014 | |||
|---|---|---|---|---|---|---|
| Proposita | Son | Daughter | 1 | 2 | ||
| Ethnicity | American | American | American | German | Swedish | Scottish |
| Sex | F | M | F | F | M | F |
| Age at first evaluation (years) | 10 | 3.5 | 1.5 | NR | NR | NR |
| Neurological features | ||||||
| Intelligence | Normal | Normal | Normal | Normal | Normal | Normal |
| Cranial nerves | Normal | Normal | Normal | NR | NR | NR |
| Sensation: light touch, temperature and propioception | Normal | Normal | Normal | NR | NR | NR |
| Deep tendon reflex | Normal | Normal | Normal | NR | NR | NR |
| Nerve conduction | Normal | ND | ND | Normal | ND | ND |
| Musculoskeletal features | ||||||
| Multiple painless fractures | Yes | Yes | Yes | Yes | Yes | Yes |
| Age at first fracture (years) | 2 | 2.5 | 1 | NR | NR | NR |
| Numbers of fractures | 4 | 12 | 8 | NR | NR | NR |
| Fracture sites | Tibia, fibula, talus, metatarsal | Elbow, tibia, fibula, calcaneous, cuboid, metatarsals | Ulnar, tibia, femur, calcaneous | NR | NR | NR |
| Hypermobile joints | Yes | Yes | Yes | NR | NR | NR |
| Charcot arthropathy | Yes | Yes | No | Yes | Yes | Yes |
| Muscle weakness | No | No | No | Yes | Yes | Yes |
| Neuro-cutaneous features | ||||||
| Insensitivity to pain | Yes | Yes | Yes | Yes | Yes | Yes |
| Self- inflicted injury | Yes (excoriated right alae nasi) | Yes (abraded tongue with teeth and scratched skin) | Yes (biting lip and scratched skin) | Yes | Yes | Yes |
| Skin ulcer at posterior cervical region | No | Yes (chest wall, back) | Yes | Yes | Yes | Yes |
| Slow wound healing | Yes | Yes | Yes | Yes | Yes | Yes |
| Pruritus | No | Yes | Yes | Yes | Yes | Yes |
| Intermittent body sensation of electrical pain | Yes | Yes | Yes | No | No | No |
| Excessive sweating | No | No | Yes | Yes | Yes | Yes |
| Heat/cold weather intolerance | No | Yes | Yes | Yes | Yes | Yes |
| Gastrointestinal features | ||||||
| Chronic diarrhea | Yes | Yes | Yes | Yes | Yes | Yes (during first 1-2 years of life) |
| Failure to thrive | No | No | Yes | Yes (Required parenteral nutrition) | Yes (Required parenteral nutrition) | Yes |
| Episodic abdominal pain | No | No | No | No | No | Yes |
| Perineal discomfort on passing motion or urine | No | No | No | No | Yes | Yes |
| Rectal pain from defication | No | No | No | No | Yes | Yes |
*
NR = No report, ND = Not done