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Congenital Insensitivity/Indifference to Pain
Hsan type ii
Sensory and Autonomic Neuropathies - HSAN Type II
HSAN Type II is congenital (present at birth) or very early onset. There is universal absence of pain in most, and defective tactile sensation in many, resulting in burns, mutilation of finger tips, painless fractures, painless arthritis with joint destruction, and leprosy-like damage to the extremities. In some people there are areas of normal sensation on the trunk. There may be impaired bladder sensation with overdistention. There is deafness in some affected individuals. In most, the condition does not progress, or progresses very slowly. Rarely there is rapid progression. HSAN Type II is almost certainly produced by different genes or combinations of genes. Microscopically there is degeneration of peripheral nerves.
Inheritance patterns
Autosomal recessive.
Prenatal diagnosis
This is not possible as the gene defect has not been identified nor a test developed
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