Search results
Results From The WOW.Com Content Network
Familial dysautonomia (FD), also known as Riley–Day syndrome, is a rare, [2] progressive, [3] recessive genetic disorder of the autonomic nervous system [2] that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons in the autonomic and sensory nervous system.
Dysautonomia, autonomic failure, or autonomic dysfunction is a condition in which the autonomic nervous system (ANS) does not work properly. This condition may affect the functioning of the heart , bladder , intestines , sweat glands , pupils , and blood vessels.
Familial dysautonomia (also known as “Riley-Day syndrome”) is a complex congenital neurodevelopmental disease, characterized by unusually low numbers of neurons in the sensory and autonomic nervous systems. The resulting symptoms of patients include gastrointestinal dysfunction, scoliosis, and pain insensitivity.
Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder disturbs cells in the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature.
The CIGNA panel is available for testing for parental/preconception screening or following chorionic villus sampling or amniocentesis and tests for Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, Gaucher disease, mucolipidosis IV, Neimann-Pick disease type A, Tay-Sachs disease, and torsion dystonia.
Familial dysautonomia; Familial isolated vitamin E deficiency; Familial Mediterranean fever; Familial nasal acilia; Fanconi anemia; Farber disease; Fatty-acid metabolism disorder; Fibrochondrogenesis; Fine–Lubinsky syndrome; Finnish heritage disease; Follicle-stimulating hormone insensitivity; Fountain syndrome; Fraser syndrome; Friedreich's ...
Fatal familial insomnia: PRNP: dominant Familial adenomatous polyposis: APC: 1:10,000-15,000 Familial dysautonomia: IKBKAP: Familial Creutzfeld–Jakob disease: PRNP: dominant Familial episodic pain syndrome: TRPA1, SCN10A, SCN11A: dominant Familial thoracic aortic aneurysm and aortic dissection
Paroxysmal sympathetic hyperactivity (PSH) is a syndrome that causes episodes of increased activity of the sympathetic nervous system.Hyperactivity of the sympathetic nervous system can manifest as increased heart rate, increased respiration, increased blood pressure, diaphoresis, and hyperthermia. [1]