Inherited autonomic neuropathies are a rare group of disorders associated with sensory
dysfunction. As a group they are termed the “hereditary sensory and autonomic neuropathies”
(HSAN). Classification of the various autonomic and sensory disorders is ongoing.
In addition to the numerical classification of four distinct forms proposed by Dyck
and Ohta (1975), additional entities have been described. The best known and most
intensively studied of the HSANs are familial dysautonomia (Riley-Day syndrome or
HSAN type III) and congenital insensitivity to pain with anhidrosis (HSAN type IV).
Diagnosis of the HSANs depends primarily on clinical examinations and specific sensory
and autonomic assessments. Pathologic examinations are helpful in confirming the diagnosis
and in differentiating between the different disorders. In recent years identification
of specific genetic mutations for some disorders has aided diagnosis. Replacement
or definitive therapies are not available for any of the disorders so that treatment
remains supportive and directed toward specific symptoms.
Hereditary sensory and autonomic neuropathies (HSAN) - familial dysautonomia (FD)
- congenital insensitivity to pain with anhidrosis (CIPA or HSAN type IV)
