Riley and Day described familial dysautonomia, which is a hereditary neurologic disorder that affects unmyelinated autonomic and sensory neurons. The specific genetic mutation is not known, so diagnosis is based on clinical features.


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.)


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