Familial dysautonomia.

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.

General anaesthesia in eight patients with familial dysautonoma.

FAMILIAL DYSAUTONOMIA, a rare syndrome typically involving Jewish children is probably transmitted as a simple autosomal recessive gene. 1-4 During the past 15 years, eight patients with familial dysautonomia underwent a total of 24 surgical procedures under general anaesthesia at The Hospital for Sick Children, Toronto. The purpose of this paper is to review our experience with these eight pat...

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

Increased Incidence of Tumors With the IKBKAP Gene Mutation? A Case Report and Review of the Literature

An increased incidence of neoplasia was recently reported in patients with familial dysautonomia. This suggests that, in addition to its role in neuronal development, the IKBKAP gene may also influence DNA repair. Here we report the case of a 28-year-old male with familial dysautonomia who was found to have neoplastic lesions detected post mortem as incidental findings. This case indicates that...

Highly abnormal thermotests in familial dysautonomia suggest increased cardiac autonomic risk.

OBJECTIVE Patients with familial dysautonomia have an increased risk of sudden death. In some patients with familial dysautonomia, sympathetic cardiac dysfunction is indicated by prolongation of corrected QT (QTc) interval, especially during stress tests. As many patients do not tolerate physical stress, additional indices are needed to predict autonomic risk. In familial dysautonomia there is ...

Studies of cellular radiosensitivity in hereditary disorders of nervous system and muscle.

Skin fibroblasts from patients with familial dysautonomia, Duchenne muscular dystrophy and Charcot-Marie-Tooth disease show normal sensitivity to ionising radiation, as measured by post-irradiation clonal growth. Previous reports of cellular hypersensitivity to ionising radiation and other DNA-damaging agents in familial dysautonomia and Duchenne muscular dystrophy have not been confirmed.