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Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III (HSAN III)
Symptoms are present at birth and grow worse over time.
The health care provider will perform a physical exam. The patient may have:
Blood tests are available to check for the IKBKAP gene. The detection rate in the Ashkenazi Jewish population is greater than 99%.
Harati Y, Bosch EP. Disorders of peripheral nerves. In: Bradley WG, Daroff RB, Fenichel G, Jankovic J, eds. Neurology in Clinical Practice. 5th ed. Philadelphia, Pa: Butterworth-Heinemann Elsevier; 2008:chap 80.
Klein CJ. The inherited neuropathies. Neurol Clin. 2007;25:173-207.
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