| Characterized by the association of type 1 hereditary sensory and autonomic neuropathy with paroxysmal cough and gastroesophageal reflux. So far, it has been described in two families. Onset occurs in adulthood with distal sensory loss due to an axonal neuropathy, gastroesophageal reflux, 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. Linkage to chromosome 3p22-p24 was found in both reported families. Transmission is autosomal dominant. |
