Disease or Syndrome
familial dysautonomia
[ fuh-mil-yuhl, -mil-ee-uhl dis-aw-tuh-noh-mee-uh ]
Subclass of:
Hereditary Sensory and Autonomic Neuropathies;
Dysautonomia
Definitions related to dysautonomia, familial:
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(familial dysautonomia) A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.NCI ThesaurusU.S. National Cancer Institute, 2021
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(familial dysautonomia) A dysautonomia due to a genetic disorder associated with an abnormality of the sensory and autonomic nerves, decreased sensation of pain and decreased production of tears.ACC/AHA Clinical Data TerminologyAmerican College of Cardiology and American Heart Association , 2020
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(familial dysautonomia) Autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent; clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension, fixed pupils, excessive sweating, loss of pain and temperature sensation, and absent reflexes; pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons.CRISP ThesaurusNational Institutes of Health, 2006
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An autosomal disorder of the peripheral and autonomic nervous systems limited to individuals of Ashkenazic Jewish descent. Clinical manifestations are present at birth and include diminished lacrimation, defective thermoregulation, orthostatic hypotension (HYPOTENSION, ORTHOSTATIC), fixed pupils, excessive SWEATING, loss of pain and temperature sensation, and absent reflexes. Pathologic features include reduced numbers of small diameter peripheral nerve fibers and autonomic ganglion neurons. (From Adams et al., Principles of Neurology, 6th ed, p1348; Nat Genet 1993;4(2):160-4)NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Familial dysautonomia (FD) affects the development and survival of sensory, sympathetic, and parasympathetic neurons. It is a debilitating disease present from birth. Neuronal degeneration progresses throughout life. Affected individuals have gastrointestinal dysfunction, vomiting crises, recurrent pneumonia, altered sensitivity to pain and temperature perception, and cardiovascular instability. About 40% of individuals have autonomic crises. Hypotonia contributes to delay in acquisition of motor milestones. Older individuals often have a broad-based and ataxic gait that deteriorates over time. Life expectancy is decreased.GeneReviewsUniversity of Washington, 2021
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Familial dysautonomia (FD) is an inherited disorder of the nervous system that affects the development and survival of autonomic and some sensory neurons. Originally reported by Riley et al in 1949, familial dysautonomia is now recognized as one of several hereditary sensory and autonomic neuropathies.WebMD, 2019
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Familial dysautonomia (FD) affects nerve cells in the autonomic nervous system, the part of the nervous system that controls involuntary functions like breathing and digestion. The symptoms of FD are present at birth and include difficulty swallowing, and poor control of blood pressure, body temperature and breathing. Other symptoms may...National Center for Advancing Translational Sciences
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Riley-Day syndrome, an inherited disorder occurring almost exclusively in Ashkenazic Jews that is caused by abnormal functioning of the autonomic nervous system. Riley-Day syndrome is characterized by emotional instability, decreased tear production, low blood pressure upon standing up (postural...Encyclopedia Britannica, Inc., 2020
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