Highly abnormal thermotests in familial dysautonomia suggest increased cardiac autonomic risk
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چکیده
منابع مشابه
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 ...
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Familial dysautonomia presents a tetrad of symptoms referable to the eye which are quite regularly present and which, in association, are distinctive and virtually diagnostic. These are alacrima, corneal hypesthesia or anesthesia, exodeviation, and pupillary constriction following the local administration of 2.5 per cent methacholine. These manifestations appear to be related to other symptoms ...
متن کاملFamilial 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...
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متن کاملFamilial Dysautonomia (FD)
Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy which results from poor development and progressive degeneration of the nervous system. The mutation responsible for FD was found at the 5�ss of intron 20 of the IKBKAP gene, encoding the I?B kinase complex-associated protein (IKAP...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 1998
ISSN: 0022-3050
DOI: 10.1136/jnnp.65.3.338