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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.
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 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.
For example, two mutations in the glucocerebrosidase gene each cause Gaucher's disease in Ashkenazim, which is that group's most common genetic disease, but only one of these mutations is found in non-Jewish groups. [5] A few diseases are unique to this group; familial dysautonomia, for example, is almost unknown in other peoples. [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.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Defects in the genetic coding for NGF, which result in less functional, abnormally structured NGF, may be the molecular cause of familial dysautonomia. [11] NGF is necessary for survival of some neurons so loss of NGF function could be the cause for neuronal death in the SCG.
The early names of the inherited neuropathies were given after the most prominent features or the suggested underlying mechanism of the diseases, such as mal perforant du pied, ulcero-mutilating neuropathy, hereditary perforating ulcers, familial trophoneurosis, familial syringomyelia, hereditary sensory radicular neuropathy, among others.