Riley-Day Syndrome
Alternate Names : Familial Dysautonomia, Hereditary Sensory and Autonomic Neuropathy - Type III
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Riley-Day Syndrome Diagnosis & Tests
DNA testing can be done by linkage analysis or direct mutation testing. However, the formal diagnosis of Riley-Day is based on observations, not genetic testing. The signs are:
- Evidence of recurrent aspiration pneumonia on an X-ray of the chest
- Cyclic vomiting
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Unsteady gait
- Damage to the eye due to lack of tearing and blink reflex; gently touching the cornea of the eye with a "Q-Tip" won't produce a blink
- Absence of flare response to histamine. (Normally, when histamine is injected just under the skin there will be swelling and redness. If there is a lack of this flair response, the test is positive and indicates Riley-Day syndrome.)
- Absent or decreased deep tendon reflexes
- Insensitivity to pain or burns
- Speech abnormalities
- Normal intellect
- Delayed puberty
- Short stature
- Abnormal heart rhythm on ECG
- Absence of overflow tears
- Tiny pupils after administering pilocarpine into the eye
- Postural hypotension
- Blotching
- Increased sweating
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