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FD 101: What is
Familial Dysautonomia?
It's not pediatric cancer. It's not juvenile diabetes. But like
these diseases, it kills children. Familial Dysautonomia (pronounced
"dys-auto-NO-mia" and referred to as FD) is a hereditary disorder
that affects the nervous system. A typical cold can be life
threatening to a victim of FD. FD is a way of life. FD is born the
moment the child is born, and from that moment it affects every
aspect of his or her life. FD is not a malady, a virus or a
bacteria. It is not contagious and cannot be acquired after birth.
FD affects every organ in the body. Researchers are on the brink of
discovering meaningful treatments that will halt the progression of
the disease. Until then, parents and children to their best to cope
with the life-threatening challenges of FD.
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Symptoms of Familial
Dysautonomia
Familial Dysautonomia (FD) is a progressive and fatal neurological disorder that affects
the autonomic and sensory nervous systems. The major symptoms seen in FD include difficulty
swallowing, autonomic crisis (episodes of vomiting, high blood pressure and fast heart rate, sweating, abdominal discomfort, and often fever), dizziness, decreased pain and
temperature sensation, no tears when crying, spinal (back) curvature, delayed development,
and low muscle tone. There is a wide range of symptoms and individuals vary in their
presentation of the disease.
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more about the symptoms of FD
Genetics of Familial
Dysautonomia
Familial Dysautonomia is a genetic disorder seen in individuals with Eastern European
(Ashkenazi) Jewish descent. FD is caused by mutations in the gene encoding for IKAP protein.
There are 2 known mutations that cause FD; both are found exclusively among Ashkenazi Jews.
1 in 30 Ashkenazi Jews carries the major mutation for FD, a carrier rate similar to that of
Tay-Sachs. Testing for both mutations is available throughout the world. If you are of
Ashkenazi descent, we encourage you to be tested for both mutations that cause FD.
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Research in Familial
Dysautonomia
Familial Dysautonomia is also known as Riley-Day Syndrome and Hereditary Sensory and
Autonomic Neuropathy Type 3 (HSAN 3). Dysautonomia is a general term which refers to the
dysfunction of the autonomic nervous system. Many diseases can have dysautonomia as a
feature. These include Parkinson's disease, diabetes mellitus, mitochondrial disorders,
metabolic disorders, autism, Shy-Drager syndrome, POTS syndrome, and multiple system
atrophy. Familial Dysautonomia refers to the specific disorder caused by a mutation of
the IKBKAP gene as described above.
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about research in the field of Familial Dysautonomia
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