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Familial dysautonomia in Adult
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Familial dysautonomia in Adult

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Contributors: Jamie Adams MD, Richard L. Barbano MD, PhD
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Synopsis

Familial dysautonomia is a rare genetic disorder, also known as hereditary sensory autonomic neuropathy type III or Riley-Day syndrome, characterized by decreased pain and temperature sensation along with dysfunction of the sympathetic nervous system. Symptoms usually start in infancy with poor feeding and growth, hypotonia, lack of tears, difficulty controlling body temperature, and frequent lung infections due to aspiration.  

Patients develop decreased sensitivity to pain and temperature, fluctuations in blood pressure and heart rate, orthostatic hypotension, scoliosis, impaired kidney function, and vision loss. Balance problems lead to the need for assistive walking devices. Autonomic crises may occur after emotional or physical stress and are characterized by hypertension, tachycardia, sweating, flushing, drooling, and vomiting. About half of those affected live to age 40.

For more information, see OMIM.

Codes

ICD10CM:
G90.1 – Familial dysautonomia [Riley-Day]

SNOMEDCT:
29159009 – Familial Dysautonomia

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Last Updated: 04/01/2019
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Familial dysautonomia in Adult
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Familial dysautonomia (Child) : Vomiting, Constipation, Gait disturbance, Kyphoscoliosis, Orthostatic hypotension
Clinical image of Familial dysautonomia
Cutaneous hyperactivity and mottling in familial dysautonomia.
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