Familial dysautonomia (Riley-Day syndrome).

Vestibular dysfunction in familial dysautonomia. The Riley-Day syndrome.

We report the bilateral absence of response to tests of vestibular function in 5 patients with familial dysautonomia.

A Neuropathological Study of Familial Dysautonomia (riley-day Syndrome) in Siblings.

Familial dysautonomia.

Familial dysautonomia is a rare syndrome of childhood affecting the nervous system. As the name suggests, dysfunction of the autonomic system is a prominent feature. It was first recognized as a separate entity by Riley, Day, Greeley and Langford (1949), the first large series being described by Riley (1952). So far, about 70 patients have been recorded. Though the fully developed syndrome is u...

The Riley-Day syndrome

Familial dysautonomia (Riley et al., 1949) is an autosomal recessive disease affecting Jews of Eastern European ancestry (Brunt and McKusick, 1970). As the name implies the autonomic nervous system is defective, and this is seen clinically as defective control of temperature, blood pressure, and swallowing, by skin blotching, excessive sweating, lack of tearing, and bowel disturbance. Abnormali...

Riley-Day Syndrome (congenital familial dysautonomia).

THIS rare disease is of particular importance to ophthalmologists because of the congenital failure of tear production and corneal anaesthesia. It was first described as an entity by Riley, Day, Greeley, and Langford (1949). Since then, many further cases have been reported (Braun-Vallon and Bessman, 1960; Levin, 1960; Laxdal, Khera, and Haworth, 1961; Thieffry, Joseph, Martin, Job, and Lorthol...