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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Familial dysautonomia

小儿内科

Common symptoms

共济失调、多汗症、吞咽困难、腹痛、心动过缓、角膜溃疡、构音障碍、恶心、低血压

The pathology of disease

Familial dysautonomia (Riley-Day syndrome) is AR autonomic neuropathy; Ashkenazi Jews; children; autonomic crises; insensitivity to pain; supportive; neurology/genetics.

Symptoms

Autonomic crises; insensitivity to pain; Ashkenazi Jews; child; dysphagia; Scoliosis

Causes

IKBKAP mutation; AR; Riley-Day; familial dysautonomia; Ashkenazi.

Treatment

Supportive; manage autonomic crises; feeding; neurology/genetics; no cure

Dept

Pediatric neurology / neurology / genetics.

Warm reminder: Health education reference only; seek care at regular hospital.