From: Hereditary sensory and autonomic neuropathies: types II, III, and IV
Clinical features | HSAN type II | HSAN type III | HSAN type IV |
---|---|---|---|
Onset | Birth | Birth | Birth |
Initial symptoms (From birth to age 3 years) | Swallowing problems | Swallowing problems | Fevers |
Self mutilation (65%) | Aspiration pneumonia | Self mutilation (88%) | |
Delayed development | Breech presentation (37%) | ||
Hypothermia | |||
Delayed development | |||
Unique features | No axon flare | No axon flare | No axon flare |
Lack of fungiform papilla | Lack of fungiform papilla | Anhydrosis | |
Hearing loss (30%) | Alacrima | Consanguinity 50% | |
Sensory dysfunction | |||
Depressed DTR | Frequent (71%) | Almost consistent (99%) | Infrequent (9%) |
Pain perception | Absent | Mild to moderate decrease | Absent |
Temperature perception | Severe decrease | Mild to moderate decrease | Absent |
Vibration sense | Normal | Normal | Normal to moderate decrease |
Autonomic | |||
Gastroesophageal Reflux | Frequent (71%) | Frequent (67%) | Uncommon (24%) |
Postural hypotension | Uncommon (25%) | Almost consistent (99%) | Uncommon (29%) |
Episodic hypertension | Rare | Frequent | Rare |
Ectodermal features | |||
Dry Skin | No | No | Consistent |
Fractures | 29% | 40% | 71% |
Scoliosis | 59% | 85% | 23% |
Intelligence | |||
IQ < 65 | Common (38%) | Uncommon (10%) | Common (33%) |
Hyperactivity | Common (41%) | Uncommon | Common (54%) |