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Major clinical features of HSAN II, HSAN III, and HSAN IV |
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| Clinical features |
HSAN type II |
HSAN type III |
HSAN type IV |
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| 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%) |
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| Delayed development |
Breech presentation (37%) |
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| Hypothermia |
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| Delayed development |
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| Unique features |
No axon flare |
No axon flare |
No axon flare |
| Lack of fungiform papilla |
Lack of fungiform papilla |
Anhydrosis |
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| Hearing loss (30%) |
Alacrima |
Consanguinity 50% |
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| Sensory dysfunction |
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| 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 |
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| Gastroesophageal Reflux |
Frequent (71%) |
Frequent (67%) |
Uncommon (24%) |
| Postural hypotension |
Uncommon (25%) |
Almost consistent (99%) |
Uncommon (29%) |
| Episodic hypertension |
Rare |
Frequent |
Rare |
| Ectodermal features |
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| Dry Skin |
No |
No |
Consistent |
| Fractures |
29% |
40% |
71% |
| Scoliosis |
59% |
85% |
23% |
| Intelligence |
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| IQ < 65 |
Common (38%) |
Uncommon (10%) |
Common (33%) |
| Hyperactivity |
Common (41%) |
Uncommon |
Common (54%) |
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Rare < 1% Infrequent < 10% Uncommon < 30% Common 30–65% Frequent > 65% DTR = deep tendon reflexes | |||
Axelrod and Gold-von Simson Orphanet Journal of Rare Diseases 2007 2:39 doi:10.1186/1750-1172-2-39 |
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