Inheritance: autosomal recessive, with variable expression
Cardinal criteria:
(1) alacrima (decreased tearing)
(2) absence of fungiform papillae on the tongue
(3) decreased patellar reflexes and other deep tendon reflexes
(4) lack of a flare response following intradermal injection of histamine
(5) intra-ocular hypersensitivity to pilocarpine and other parasympathomimetic agent
(6) Ashkenazi Jewish descent
Other clinical findings:
(1) decreased pain perception
(2) decreased temperature sensation
(3) decreased corneal reflex
(4) decreased taste discrimination
(5) hypotonia
(6) ataxic gait
(7) excessive sweating
(8) cold, mottled extremities
(9) drooling
(10) difficulty feeding
(11) gastroesophageal reflux, vomiting, regurgitation
(12) constipation
(13) hyperreactive airways
(14) bronchiectasis and atelectasis
(15) repeated pneumonia
(16) syncope
(17) headaches
(18) neuropathic joints
(19) aseptic necrosis
(20) corneal ulcerations
(21) deteriorating renal function with rising serum creatinine (progressive ischemic sclerosis)
(22) difficulty in high or low pressure environments (underwater, air travel, etc.)
