About HSAN
HSAN is the abbreviation for hereditary sensory and autonomic neuropathy. At the present time there are a number of different HSAN.
The disorders are believed to be genetically distinct from each other and caused by different gene mutations. All HSAN are characterized by widespread sensory dysfunction and variable autonomic dysfunction caused by incomplete development of sensory and autonomic neurons.
Nomenclature |
HSAN type* |
Transmission/Gene location |
Hereditary sensory radicular neuropathy |
I |
AD/ 9q22.1-22.3 |
Congenital sensory neuropathy (CSN) |
II |
AD/ ? |
Familial dysautonomia (FD)/Riley Day |
III |
AD/ 9q31 |
Congenital insensitivity to pain with anhidrosis (CIPA) |
IV |
AD/ 1q21-22 |
Congenital insensitivity to pain with partial anhidrosis |
V |
NK |
Congenital autonomic dysfunction with universal pain loss (CAD) |
NK |
|
Progressive panneuropathy |
NK |
* HSAN nomenclature from Dyck and Ohta [2]
AD: autosomal dominant, AR: autosomal recessive, NK: unknown
Some of the HSAN have more than one name which can be confusing. It is important to determine which HSAN type the child has so that one can provide accurate counseling regarding genetic testing, symptoms and treatments.