Hereditary Sensory And Autonomic Neuropathy Type 1b

Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR).

Epidemiology

So far, it has been described in two families.

Clinical description

Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, GOR, and cough triggered by noxious odors or by pressure in the external auditory canal. The cough may be severe leading to syncope and retinal detachment. Additional features include throat clearing, a hoarse voice, and sensorineural hearing loss.

Etiology

Linkage to chromosome 3p22-p24 was found in both reported families.

Genetic counseling

Transmission is autosomal dominant.