Familial dysautonomia, first described as a distinct entity in 1949 (Riley et al., 1949), is considered to be a comparatively rare disease, only some 48 cases being so far recorded (Riley et al., 1954). But as its features become more widely known it is likely to be increasingly recognized. It occurs in children of Jewish parentage, the majority of cases being reported from the U.S.A., with one from South America (Tyndel, 1955), and some from Montreal (Riley, 1955).
The constant symptoms comprise: defective lachrymation (“crying without tears”); symmetrical, blotchy erythema following emotional disturbances or eating; excessive sweating; sialorrhoea; emotional lability; poor motor coordination; relative indifference to pain; and hypo- or areflexia. Inconstant symptoms are: intermittent hypertension; periodic vomiting which may threaten life; liability to respiratory diseases; frequent unexplained bouts of pyrexia; attacks of apnoea during the first year of life; corneal ulceration; orthopaedic changes (scoliosis, pes cavus); and epileptiform convulsions (Riley, 1952).
The condition is familial, apparently being inherited as a simple recessive trait (Riley et al., 1954), though an irregular dominant is a possibility (St. Martin, 1953).