The Riley-Day syndrome
نویسندگان
چکیده
Familial dysautonomia (Riley et al., 1949) is an autosomal recessive disease affecting Jews of Eastern European ancestry (Brunt and McKusick, 1970). As the name implies the autonomic nervous system is defective, and this is seen clinically as defective control of temperature, blood pressure, and swallowing, by skin blotching, excessive sweating, lack of tearing, and bowel disturbance. Abnormalities are also present in the sensory nervous system, and these include diminished ability to taste, relative insensitivity to pain, and dysaesthesia. The absence of deep tendon reflexes may also be the result of a sensory deficit in the afferent side of the reflex arc. Joint position sense is, however, normal and no satisfactory explanation has to our knowledge been given for the frequent findings of balance disturbance and a positive Romberg sign in dysautonomia. We report the finding of abnormal vestibular function in this disorder.
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