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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.
Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III. Problems related to this disorder first appear during infancy. Early signs and symptoms include poor muscle tone (hypotonia), feeding difficulties, poor growth, lack of tears, frequent lung infections, and difficulty maintaining body temperature.
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. Dysautonomia has many causes, not all of which may be classified as neuropathic. [5]
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.
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Primary autonomic failure (also called primary dysautonomia) refers to a category of dysautonomias — conditions in which the autonomic nervous system does not function properly. In primary dysautonomias, the autonomic dysfunction occurs as a primary condition (as opposed to resulting from another disease). [ 1 ]